Maja Di Rocco

Scopus Publications

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy
Francesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, Joanna Kopecka, Chiara Salio, Barbara Gnutti, Ram Manohar Basnet, Stefania Bellini, Luca Mignani, Boxun Zhao, Felix Kleefeld, Andreas Hentschel, Francesca Magnani, Veronica Fiorito, Raluca Elena Abalai, Livia Metani, Anna Lucia Allocco, Sara Petrillo, Francesco De Giorgio, Giorgia Ammirata, Ettore Salsano, Davide Pareyson, Maja di Rocco, Angela Abicht, Emily McCourt, Rita Horvath, Heike Kölbel, Austin Larson, Andreas Roos, Timothy W. Yu, Dario Finazzi, Chiara Riganti, Emanuela Tolosano, Deborah Chiabrando
Communications Biology, 2026
Genetic pain loss disorders represent a heterogeneous group of rare diseases mainly characterized by defective nociception. Understanding the underlying molecular mechanism is fundamental to improve the treatment of patients affected by these rare disorders. Feline Leukemia Virus Subgroup C Receptor 1 (FLVCR1) is one of the genes previously associated with sensory neuropathy that requires further investigation. Here, we report on two additional patients with novel disease-causing variants in FLVCR1 and introduce a zebrafish model of the disease. The analyses of patient-derived fibroblasts show that distinct FLVCR1 variants compromised all the known functions associated with FLVCR1, thus affecting choline levels, heme biosynthesis and mitochondrial Ca2+ handling. Furthermore, we provide evidence that the alteration of these processes impairs the TCA cycle and OXPHOS, and induces lipid peroxidation. Our data points to the alterations of energetic metabolism as a potential driving pathomechanism in FLVCR1-associated sensory neuropathy. Functional studies of pathogenetic FLVCR1 variants associated with sensory neuropathy reveal that impaired choline uptake, heme biosynthesis, and ER–mitochondria Ca²⁺ transfer result in mitochondrial energetic failure.
Hearing loss predictive model in fibrodysplasia ossificans progressiva from a national referral center: developing an hearing loss predictive model
Tommaso Cacco, Riccardo Papa, Luca Carmisciano, Carola Bruzzo, Lucia Semino, Alberto Tonelli, Caterina Matucci-Cerinic, Maja Di Rocco, Renata Bocciardi, Marco Gattorno, Roberto D’Agostino
Jbmr Plus, 2025
Fibrodysplasia ossificans progressiva (FOP) is the most dramatic form of progressive heterotopic ossification of soft tissues. Hearing impairment in FOP patient is a common feature, reported by about 50% of affected patients. However, wide case series considering audiologic features are lacking. We report the audiologic history of a group of FOP patients in order to define the hearing loss characteristics, genotype association, and possible rehabilitative options. We report audiometric history of 16 FOP patients referred to our Institute from 2014 onwards without ear malformations or other known reason for audiologic impairment. Major involvement of high frequencies in our FOP cohort suggests that the position of the high-frequency receptors within the cochlea, near the oval window, makes them more exposed to damage than the low-frequency receptors located deeper in the cochlea. Furthermore, the reported gender difference may be secondary to a hormonal effect, as known in patients with otosclerosis. Finally, regarding the genotype, we noted that only the non-classic patient carrying the ACVR1 c.619C&gt;G; p.Q207E mutation, presented a mixed hypoacusia with a sensorineural component prevailing on acute frequencies, currently not deserving hearing aids. This evidence suggests a possible novel genotype association to be confirmed in larger cohort. The present analysis shows that a longer disease history is associated with a statistically significant worse hearing loss, mainly involving the high frequencies. The advent of new therapeutic options highlights the relevance of having comparative follow-up data in order to evaluate the effectiveness of these new therapies against all the various clinical manifestations of FOP.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, , Ivo Baric, Spyros Batzios, Nadia Belmatoug, Andrea Bordugo, Annet M. Bosch, Anais Brassier, Alberto Burlina, David Cassiman, Brigitte Chabrol, Efstathia Chronopoulou, Maria Luz Couce-Pico, Niklas Darin, Anibh M. Das, Francois G. Debray, Patrick Deegan, Luisa M. de Abreu Freire Diogo Matos, Javier De Las Heras Montero, Maja Di Rocco, Dries Dobbelaere, Francois Eyskens, Ana Ferreira, Ana M. Gaspar, Serena Gasperini, Antonio González-Meneses López, Salvatore Grosso, Nathalie Guffon-Fouilhoux, Julia Hennermann, Tarekegn G. Hiwot, Simon Jones, Sandra Kingma, Veroniki Komninaka, Elena Martín-Hernández, Esmeralda Martins, Diana Miclea, György Pfliegler, Esmeralda Rodrigues, Dariusz Rokicki, Dominique Roland, Frank Rutsch, Alessandro Salviati, Ivailo Tournev, Kurt Ullrich, Peter M. van Hasselt, Suresh Vijay, Natalie Weinhold, Peter Witters, Jiri Zeman
Orphanet Journal of Rare Diseases, 2024
Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Pompe disease, a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. The CPR document was developed within the activities of the MetabERN, a non-profit European Reference Network for Metabolic Diseases established by the European Union. A working group was selected among members of the MetabERN lysosomal storage disease subnetwork, with specific expertise in the care of Pompe disease, and patient support group representatives. The working strategy was based on a systematic literature search to develop a database, followed by quality assessment of the studies selected from the literature, and by the development of the CPR document according to a matrix provided by MetabERN. Quality assessment of the literature and collection of citations was conducted according to the AGREE II criteria and Grading of Recommendations, Assessment, Development and Evaluation methodology. General aspects were addressed in the document, including pathophysiology, genetics, frequency, classification, manifestations and clinical approach, laboratory diagnosis and multidisciplinary evaluation, therapy and supportive measures, follow-up, monitoring, and pregnancy. The CPR document that was developed was intended to be a concise and easy-to-use tool for standardization of care for patients among the healthcare providers that are members of the network or are involved in the care for Pompe disease patients.
Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: A post hoc analysis of the randomized, double-blind, placebo-controlled LUMINA-1 trial
Richard Keen, Kathryn M Dahir, Jennifer McGinniss, Robert J Sanchez, Scott Mellis, Aris N Economides, Maja Di Rocco, Philippe Orcel, Christian Roux, Jacek Tabarkiewicz, Javier Bachiller-Corral, Angela M Cheung, Mona Al Mukaddam, Kusha Mohammadi, Jing Gu, Dushyanth Srinivasan, Dinko Gonzalez Trotter, E Marelise W Eekhoff, Frederick S Kaplan, Robert J Pignolo
Journal of Bone and Mineral Research, 2024
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder, characterized by progressive heterotopic ossification (HO) and painful soft-tissue inflammatory flare-ups. This was a post hoc analysis from a phase 2 (NCT03188666) trial in which adults with FOP received intravenous anti-activin A antibody garetosmab 10 mg/kg or placebo every 4 wk over 28 wk (Period 1), followed by a 28-wk open-label treatment and extension (Periods 2 and 3). Here we describe flare-ups, their relationship to new HO lesions, and the impact of garetosmab on flare-ups. Volume of new HO lesions was measured by CT. Patient-reported flare-ups were defined by any 2 of the following: new onset of pain, swelling, joint stiffness, decrease in movement, or perceived presence of HO. Flare-ups were experienced by 71% (17/24) of placebo-treated patients, 59% (10/17) of whom developed a new HO lesion irrespective of flare-up location; 24% of flare-ups location-matched new HO lesions. Twenty-nine new HO lesions occurred in the placebo cohort by week 28, of which 12 (41%) occurred in the same location as new or ongoing flare-ups. A higher volume of newly formed heterotopic bone (week 28) occurred in placebo-treated patients who had experienced a prior flare-up vs those without (median [Q1:Q3] of 16.6 [12.0:31.1] vs 3.2 cm3). Garetosmab was previously shown to decrease patient-reported flare-up frequency in Period 1; here, garetosmab reduced the median (Q1:Q3) duration of patient-reported flares (15.0 [6.0:82.0] vs 48.0 [15.0:1.00] d) and the severity of flare-ups vs placebo. Frequency of corticosteroid use was numerically reduced in those treated with garetosmab (40.0%) vs placebo (58.3%). In this analysis, 71% of placebo-treated adults with FOP experienced flare-ups over 28 wk, which were associated with an increased volume of newly formed heterotopic bone. Garetosmab reduced the severity and duration of flare-ups, with effects sustained during the entire trial.
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus
Francesca Bertino, Dibyanti Mukherjee, Massimo Bonora, Christoph Bagowski, Jeannette Nardelli, Livia Metani, Diletta Isabella Zanin Venturini, Diego Chianese, Nicolas Santander, Iris Chiara Salaroglio, Andreas Hentschel, Elisa Quarta, Tullio Genova, Arpana Arjun McKinney, Anna Lucia Allocco, Veronica Fiorito, Sara Petrillo, Giorgia Ammirata, Francesco De Giorgio, Evan Dennis, Garrett Allington, Felicitas Maier, Moneef Shoukier, Karl-Philipp Gloning, Luca Munaron, Federico Mussano, Ettore Salsano, Davide Pareyson, Maja di Rocco, Fiorella Altruda, Georgia Panagiotakos, Kristopher T. Kahle, Pierre Gressens, Chiara Riganti, Paolo P. Pinton, Andreas Roos, Thomas Arnold, Emanuela Tolosano, Deborah Chiabrando
Cell Reports Medicine, 2024
Congenital hydrocephalus (CH), occurring in approximately 1/1,000 live births, represents an important clinical challenge due to the limited knowledge of underlying molecular mechanisms. The discovery of novel CH genes is thus essential to shed light on the intricate processes responsible for ventricular dilatation in CH. Here, we identify FLVCR1 (feline leukemia virus subgroup C receptor 1) as a gene responsible for a severe form of CH in humans and mice. Mechanistically, our data reveal that the full-length isoform encoded by the FLVCR1 gene, FLVCR1a, interacts with the IP3R3-VDAC complex located on mitochondria-associated membranes (MAMs) that controls mitochondrial calcium handling. Loss of Flvcr1a in mouse neural progenitor cells (NPCs) affects mitochondrial calcium levels and energy metabolism, leading to defective cortical neurogenesis and brain ventricle enlargement. These data point to defective NPCs calcium handling and metabolic activity as one of the pathogenetic mechanisms driving CH.
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and “Function Profile”: a rehabilitative approach
Anna Bruna Ronchetti, Marina Usai, Valentina Savino, Marco Scaglione, Chiara Maria Tacchino, Marta Bertamino, Paolo Moretti, Maja Di Rocco
Orphanet Journal of Rare Diseases, 2023
Background Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options. Currently, the indication and plan are overlooked, nonspecific and reported only for one patient. Methods We describe a case series of MCTO patients diagnosed and followed by a centre to identify functional deficit as a potential clinical marker of disease progression for future etiological therapies. In addition, we define a symptomatic treatment approach and specific clinical management, including a patient-centred rehabilitation approach. Functional assessments are performed independently by a multidisciplinary group to establish the functional abilities of patients and the relationship between residual motor skills and their degree of autonomy and participation. We suggest a way to identify a rehabilitation plan based on a specific disease using the International Classification of Functioning, Disability and Health Children and Youth (ICF-CY). Results To define a reliable and reproducible “Function Profile”, through age and over time, we used to value the disease status according to the ICF-CY domains. It could be used to determine the complexity of the illness, its overall impact on the complexity of the person and the burden on the caregiver, and an eventual short- and long-term rehabilitation plan for MCTO and other ultra-rare diseases. Conclusion Based on the MCTO experience, we suggest a way to determine a rehabilitation plan based on a specific disease and patient needs, keeping in mind that often the final point is not recovering the full function but improving or maintaining the starting point. In all cases, each patient at the time of diagnosis requires a functional assessment that must be repeated over time to adjust the course of rehabilitation. The evaluations revealed the importance of early rehabilitation management in enhancing independence, participation and control of stress deconditioning, shrinking of muscle tendons and loss of movement to immobility.
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino, Andrea Pession
Orphanet Journal of Rare Diseases, 2023
Background GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis. Results the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD. It is based on enzyme activity assessed on dried blood spots by multiplexed tandem mass spectrometry (MS/MS) coupled to specific biomarkers as second-tier analysis. Conclusions we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders.
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
Andrea Pession, Maja Di Rocco, Francesco Venturelli, Barbara Tappino, William Morello, Nicola Santoro, Paola Giordano, Beatrice Filippini, Simona Rinieri, Giovanna Russo, Katia Girardi, Antonio Ruggiero, Eulalia Galea, Roberto Antonucci, Nicola Tovaglieri, Fulvio Porta, Immacolata Tartaglione, Fiorina Giona, Franca Fagioli, Alberto Burlina, Rosamaria Mura, Bambina Russo, Assunta Tornesello, Giuseppe Menna, Delia Russo, Maurizio Caniglia, Sergio Schettini, Daniela Onofrillo, Saverio Ladogana, Adele Civino, and
Orphanet Journal of Rare Diseases, 2023
Background Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD. Materials and methods DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing β-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing. Results 14 out of 154 patients were diagnosed with GD, with a prevalence of 9.09% (5.06–14.78%, CI 95%). Hepatomegaly, thrombocytopenia, anemia, growth delay/deceleration, elevated serum ferritin, elevated Lyso-Gb1 and chitotriosidase were significantly associated with GD. Conclusions GD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications.
Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
Maja Di Rocco, Eduardo Forleo-Neto, Robert J. Pignolo, Richard Keen, Philippe Orcel, Thomas Funck-Brentano, Christian Roux, Sami Kolta, Annalisa Madeo, Judith S. Bubbear, Jacek Tabarkiewicz, Małgorzata Szczepanek, Javier Bachiller-Corral, Angela M. Cheung, Kathryn M. Dahir, Esmée Botman, Pieter G. Raijmakers, Mona Al Mukaddam, Lianne Tile, Cynthia Portal-Celhay, Neena Sarkar, Peijie Hou, Bret J. Musser, Anita Boyapati, Kusha Mohammadi, Scott J. Mellis, Andrew J. Rankin, Aris N. Economides, Dinko Gonzalez Trotter, Gary A. Herman, Sarah J. O’Meara, Richard DelGizzi, David M. Weinreich, George D. Yancopoulos, E. Marelise W. Eekhoff, Frederick S. Kaplan
Nature Medicine, 2023
Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by heterotopic ossification (HO) in connective tissues and painful flare-ups. In the phase 2 LUMINA-1 trial, adult patients with FOP were randomized to garetosmab, an activin A-blocking antibody (n = 20) or placebo (n = 24) in period 1 (28 weeks), followed by an open-label period 2 (28 weeks; n = 43). The primary end points were safety and for period 1, the activity and size of HO lesions. All patients experienced at least one treatment-emergent adverse event during period 1, notably epistaxis, madarosis and skin abscesses. Five deaths (5 of 44; 11.4%) occurred in the open-label period and, while considered unlikely to be related, causality cannot be ruled out. The primary efficacy end point in period 1 (total lesion activity by PET–CT) was not met (P = 0.0741). As the development of new HO lesions was suppressed in period 1, the primary efficacy end point in period 2 was prospectively changed to the number of new HO lesions versus period 1. No placebo patients crossing over to garetosmab developed new HO lesions (0% in period 2 versus 40.9% in period 1; P = 0.0027). Further investigation of garetosmab in FOP is ongoing. ClinicalTrials.gov identifier NCT03188666.
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus
Maurizio Scarpa, Antonio Barbato, Annalisa Bisconti, Alberto Burlina, Daniela Concolino, Federica Deodato, Maja Di Rocco, Carlo Dionisi-Vici, Maria Alice Donati, Simona Fecarotta, Agata Fiumara, Carlotta Galeone, Fiorina Giona, Gaetano Giuffrida, Raffaele Manna, Paolo Mariani, Andrea Pession, Annalisa Scopinaro, Marco Spada, Federico Spandonaro, Gianluca Trifirò, Francesca Carubbi, Maria Domenica Cappellini
Internal and Emergency Medicine, 2023
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
Maria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco, Fiorina Giona, Gaetano Giuffrida
Blood Cells Molecules and Diseases, 2023
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles
Elisabeth M.W. Eekhoff, Ruben D. de Ruiter, Bernard J. Smilde, Ton Schoenmaker, Teun J. de Vries, Coen Netelenbos, Edward C. Hsiao, Christiaan Scott, Nobuhiko Haga, Zvi Grunwald, Carmen L. De Cunto, Maja di Rocco, Patricia L. R. Delai, Robert J. Diecidue, Vrisha Madhuri, Tae-Joon Cho, Rolf Morhart, Clive S. Friedman, Michael Zasloff, Gerard Pals, Jae-Hyuck Shim, Guangping Gao, Frederick Kaplan, Robert J. Pignolo, Dimitra Micha
Human Gene Therapy, 2022
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients
Roberta Resaz, Davide Cangelosi, Daniela Segalerba, Martina Morini, Paolo Uva, Maria Carla Bosco, Giuseppe Banderali, Ana Estrella, Corbinian Wanner, David A. Weinstein, Annalisa Sechi, Sabrina Paci, Daniela Melis, Maja Di Rocco, Young Mok Lee, Alessandra Eva
International Journal of Molecular Sciences, 2022
Whole-body Computed Tomography Versus Dual Energy X‑ray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva
Sarah E. Warner, Frederick S. Kaplan, Robert J. Pignolo, Stacy E. Smith, Edward C. Hsiao, Carmen De Cunto, Maja Di Rocco, Kathleen Harnett, Donna Grogan, Harry K. Genant
Calcified Tissue International, 2021
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood
Marta Bertamino, , Sara Signa, Marco Veneruso, Giulia Prato, Roberta Caorsi, Giuseppe Losurdo, Federica Teutonico, Silvia Esposito, Francesca Formica, Nicola Tovaglieri, Maria A. Nagel, Giulia Amico, Alice Zanetti, Domenico Tortora, Andrea Rossi, Paolo Moretti, Marco Gattorno, Angelo Ravelli, Mariasavina Severino
Journal of Neurology, 2021
Fibrodysplasia ossificans progressiva: A challenging diagnosis
Daniele De Brasi, Francesca Orlando, Valeria Gaeta, Maria De Liso, Fabio Acquaviva, Luigi Martemucci, Augusto Mastrominico, Maja Di Rocco
Genes, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo, Elisa Biamino, Daniele Frattini, Domenico Garozzo, Serena Gasperini, Rossella Parini, Fabio Sirchia, Giuseppe Sortino, Luisa Sturiale, Gert Matthijs, Amelia Morrone, Maja Di Rocco, Renata Rizzo, Jaak Jaeken, Agata Fiumara, Rita Barone
Cerebellum, 2021
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041)
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Olgac Dundar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek, and
Brain, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek, and
Brain, 2021
Morquio B disease: From pathophysiology towards diagnosis
Anna Caciotti, Lucrezia Cellai, Rodolfo Tonin, Davide Mei, Elena Procopio, Maja Di Rocco, Antonio Andaloro, Daniela Antuzzi, Angelica Rampazzo, Miriam Rigoldi, Giulia Forni, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone
Molecular Genetics and Metabolism, 2021
An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy
Marta Bertamino, Sara Signa, Giulia Vagelli, Roberta Caorsi, Alice Zanetti, Stefano Volpi, Giuseppe Losurdo, Giulia Amico, Icilio Dodi, Giulia Prato, Anna Bruna Ronchetti, Maja Di Rocco, Maria Nagel, Mariasavina Severino
Quantitative Imaging in Medicine and Surgery, 2021
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
Maurizio Miano, Annalisa Madeo, Enrico Cappelli, Federica Lanza, Tiziana Lanza, Marina Stroppiano, Paola Terranova, Roberta Venè, Jack J.H. Bleesing, Maja Di Rocco
Journal of Allergy and Clinical Immunology in Practice, 2020
Targeted re-sequencing in pediatric and perinatal stroke
Alice Grossi, Mariasavina Severino, Marta Rusmini, Domenico Tortora, Luca A. Ramenghi, Armando Cama, Andrea Rossi, Maja Di Rocco, Isabella Ceccherini, Marta Bertamino, Amico G, Banov L, Capra V, Caorsi R, Caroli F, Gandolfo C, Giacomini T, Molinari AC, Moretti P, Moscatelli A, Nobili L, Palmieri A, Pavanello M, Prato G, Rimini A, Ronchetti A, Signa S, Uccella S
European Journal of Medical Genetics, 2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano
Molecular Genetics and Genomic Medicine, 2020
Parkinson's disease in Gaucher disease patients: What's changing in the counseling and management of patients and their relatives?
Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio, Generoso Andria
Orphanet Journal of Rare Diseases, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
Sarah H. Elsea, Alexander Solyom, Kirt Martin, Paul Harmatz, John Mitchell, Christina Lampe, Christina Grant, Laila Selim, Neslihan Oneli Mungan, Norberto Guelbert, Bo Magnusson, Erik Sundberg, Ratna Puri, Seema Kapoor, Nur Arslan, Maja DiRocco, Maha Zaki, Seza Ozen, Iman G. Mahmoud, Karoline Ehlert, Andreas Hahn, Gulden Gokcay, Marta Torcoletti, Carlos R. Ferreira
Human Mutation, 2020
Patients with ACVR1R206Hmutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao
Orphanet Journal of Rare Diseases, 2020
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern
Giulia Prato, Elisa De Grandis, Maria Margherita Mancardi, Ramona Cordani, Thea Giacomini, Livia Pisciotta, Sara Uccella, Mariasavina Severino, Domenico Tortora, Marco Pavanello, Marta Bertamino, Enrico Verrina, Gianluca Caridi, Maja Di Rocco, Lino Nobili
Brain and Development, 2020
Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry
Robert J. Pignolo, Kin Cheung, Sammi Kile, Mary Anne Fitzpatrick, Carmen De Cunto, Mona Al Mukaddam, Edward C. Hsiao, Genevieve Baujat, Patricia Delai, Elisabeth M.W. Eekhoff, Maja Di Rocco, Zvi Grunwald, Nobuhiko Haga, Richard Keen, Benjamin Levi, Rolf Morhart, Christiaan Scott, Adam Sherman, Keqin Zhang, Fredrick S. Kaplan
Bone, 2020
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, Annalisa Madeo, Alessandro Ferraris, Willie Reardon, Maja Di Rocco, Antonio Novelli, Paola Grammatico, Fransiska Malfait, Tommaso Mazza, Alan Hakim, Cecilia Giunta, Marina Colombi, Marco Castori
Clinical Genetics, 2020
Molecular genetics of niemann–pick type c disease in italy: An update on 105 patients and description of 18 NPC1 novel variants
Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara Borroni, Andrea Bordugo, Francesco Brancati, Cinzia V. Russo, Maja Di Rocco, Antonio Toscano, Maurizio Scarpa, Bruno Bembi
Journal of Clinical Medicine, 2020
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
Insa Buers, Ivana Persico, Lara Schöning, Yvonne Nitschke, Maja Di Rocco, Angela Loi, Puneet Kaur Sahi, Gulen Eda Utine, Bilge Bayraktar‐Tanyeri, Giuseppe Zampino, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi
Clinical Genetics, 2020
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
Rodolfo Tonin, Anna Caciotti, Elena Procopio, Rita Fischetto, Federica Deodato, Maria Margherita Mancardi, Maja Di Rocco, Anna Ardissone, Alessandro Salviati, Antonio Marangi, Pietro Strisciuglio, Giusi Mangone, Arianna Casini, Silvia Ricci, Agata Fiumara, Rossella Parini, Francesco Saverio Pavone, Renzo Guerrini, Martino Calamai, Amelia Morrone
Scientific Reports, 2019
Severe peripheral joint laxity is a distinctive clinical feature of spondylodysplastic-ehlersdanlos syndrome (Eds)-b4galt7 and spondylodysplastic-eds-b3galt6
Caraffi, Maini, Ivanovski, Pollazzon, Giangiobbe, Valli, Rossi, Sassi, Faccioli, Rocco, Magnani, Campos-Xavier, Unger, Superti-Furga, Garavelli
Genes, 2019
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
Thea Giacomini, Maria Stella Vari, Sara Janis, Giulia Prato, Livia Pisciotta, Alessia Rocchi, Angela Michelucci, Maja Di Rocco, Paolo Gandullia, Girolamo Mattioli, Oliviero Sacco, Giovanni Morana, Maria Margherita Mancardi
Neuropediatrics, 2019
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Annalisa Madeo, Maja Di Rocco, Anaïs Brassier, Nadia Bahi-Buisson, Pascale De Lonlay, Irène Ceballos-Picot
Molecular Genetics and Metabolism, 2019
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
Edward C. Hsiao, Maja Di Rocco, Amanda Cali, Michael Zasloff, Mona Al Mukaddam, Robert J. Pignolo, Zvi Grunwald, Coen Netelenbos, Richard Keen, Genevieve Baujat, Matthew A. Brown, Tae‐Joon Cho, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Rolf Morhart, Christiaan Scott, Keqin Zhang, Robert J. Diecidue, Clive S. Friedman, Fredrick S. Kaplan, Elisabeth M.W. Eekhoff
British Journal of Clinical Pharmacology, 2019
Research activity and capability in the European reference network MetabERN
Jean-Michel Heard, , Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa
Orphanet Journal of Rare Diseases, 2019
Correction to: Natural history of fibrodysplasia ossificans progressiva: Cross-sectional analysis of annotated baseline phenotypes (Orphanet J Rare Dis (2019) 14 (98) DOI: 10.1186/s13023-019-1068-7)
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Orphanet Journal of Rare Diseases, 2019
VARS2-linked mitochondrial encephalopathy: Two case reports enlarging the clinical phenotype
Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
BMC Medical Genetics, 2019
Natural history of fibrodysplasia ossificans progressiva: Cross-sectional analysis of annotated baseline phenotypes
Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan, Frederick S. Kaplan
Orphanet Journal of Rare Diseases, 2019
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
Atul Mehta, David J. Kuter, Sam S. Salek, Nadia Belmatoug, Bruno Bembi, Jeremy Bright, Stephan vom Dahl, Federica Deodato, Maja Di Rocco, Ozlem Göker‐Alpan, Derralynn A. Hughes, Elena A. Lukina, Maciej Machaczka, Eugen Mengel, Aabha Nagral, Kimitoshi Nakamura, Aya Narita, Beatriz Oliveri, Gregory Pastores, Jordi Pérez‐López, Uma Ramaswami, Ida V. Schwartz, Jeff Szer, Neal J. Weinreb, Ari Zimran
Internal Medicine Journal, 2019
Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability
D. Tolomeo, A. Rubegni, M. Severino, F. Pochiero, C. Bruno, D. Cassandrini, A. Madeo, S. Doccini, M. Pedemonte, A. Rossi, F. D'Amore, M.A. Donati, M. Di Rocco, F.M. Santorelli, C. Nesti
Journal of the Neurological Sciences, 2019
Allogeneic hematopoietic cell transplantation in Farber disease
Karoline Ehlert, Thierry Levade, Maja Di Rocco, Edoardo Lanino, Michael H. Albert, Monika Führer, Andrea Jarisch, Tayfun Güngör, Francis Ayuk, Josef Vormoor
Journal of Inherited Metabolic Disease, 2019
UAV-based hyperspectral imaging for weed discrimination in maize
R. Casa, S. Pascucci, S. Pignatti, A. Palombo, U. Nanni, A. Harfouche, L. Laura, M. Di Rocco, P. Fantozzi
Precision Agriculture 2019 Papers Presented at the 12th European Conference on Precision Agriculture Ecpa 2019, 2019
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
Rossella Parini, Alexander Broomfield, Maureen A. Cleary, Linda De Meirleir, Maja Di Rocco, Waseem M. Fathalla, Nathalie Guffon, Christina Lampe, Allan M. Lund, Maurizio Scarpa, Anna Tylki-Szymańska, Jiří Zeman
Acta Paediatrica International Journal of Paediatrics, 2018
Mucopolysaccharidoses: Early diagnostic signs in infants and children
Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco, Agata Fiumara
Italian Journal of Pediatrics, 2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
Anna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, Waseem M. Fathalla, Nathalie Guffon, Christina Lampe, Allan M. Lund, Rossella Parini, Frits A. Wijburg, Jiri Zeman, Maurizio Scarpa
Acta Paediatrica International Journal of Paediatrics, 2018
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
Marta Bertamino, Mariasavina Severino, Alice Grossi, Marta Rusmini, Domenico Tortora, Carlo Gandolfo, Silvia Pederzoli, Clara Malattia, Paolo Picco, Pasquale Striano, Isabella Ceccherini, Maja Di Rocco, Alessia Aiello, Laura Banov, Valeria Capra, Thea Giacomini, Paola Lanteri, Francesca Minoia, Angelo Claudio Molinari, Paolo Moretti, Andrea Moscatelli, Maria Stella Vari, Antonella Palmieri, Marco Pavanello, Giulia Prato, Luca Antonio Ramenghi, Alessandro Rimini, Andrea Rossi, Sara Uccella
European Journal of Paediatric Neurology, 2018
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire
Journal of Medical Genetics, 2018
The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva
Neal Mantick, Eric Bachman, Genevieve Baujat, Matt Brown, Oliver Collins, Carmen De Cunto, Patricia Delai, Marelise Eekhoff, Roger zum Felde, Donna Roy Grogan, Nobuhiko Haga, Edward Hsiao, Sharon Kantanie, Frederick Kaplan, Richard Keen, Jelena Milosevic, Rolf Morhart, Robert Pignolo, Xiaobing Qian, Maja di Rocco, Christiaan Scott, Adam Sherman, Marin Wallace, Nicky Williams, Keqin Zhang, Betsy Bogard
Bone, 2018
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
M. Di Rocco, M. Rusmini, F. Caroli, A. Madeo, M. Bertamino, G. Marre-Brunenghi, I. Ceccherini
Clinical Genetics, 2018
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
European Journal of Paediatric Neurology, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Rossella Parini, Paola De Lorenzo, Andrea Dardis, Alberto Burlina, Alessandra Cassio, Paolo Cavarzere, Daniela Concolino, Roberto Della Casa, Federica Deodato, Maria Alice Donati, Agata Fiumara, Serena Gasperini, Francesca Menni, Veronica Pagliardini, Michele Sacchini, Marco Spada, Roberta Taurisano, Maria Grazia Valsecchi, Maja Di Rocco, Bruno Bembi
Orphanet Journal of Rare Diseases, 2018
The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature
Annalisa Madeo, Alberto Garaventa, Angela Rita Sementa, Chiara Suffia, Maja Di Rocco
Blood Cells Molecules and Diseases, 2018
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease
M. Biegstraaten, T.M. Cox, N. Belmatoug, M.G. Berger, T. Collin-Histed, S. Vom Dahl, M. Di Rocco, C. Fraga, F. Giona, P. Giraldo, M. Hasanhodzic, D.A. Hughes, P.O. Iversen, A.I. Kiewiet, E. Lukina, M. Machaczka, T. Marinakis, E. Mengel, G.M. Pastores, U. Plöckinger, H. Rosenbaum, C. Serratrice, A. Symeonidis, J. Szer, J. Timmerman, A. Tylki-Szymańska, M. Weisz Hubshman, D.I. Zafeiriou, A. Zimran, C.E.M. Hollak
Blood Cells Molecules and Diseases, 2018
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
Orphanet Journal of Rare Diseases, 2018
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians
Atul Mehta, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Deborah Elstein, Özlem Göker-Alpan, Elena Lukina, Eugen Mengel, Kimitoshi Nakamura, Gregory M. Pastores, Jordi Pérez-López, Ida Schwartz, Christine Serratrice, Jeffrey Szer, Ari Zimran, Maja Di Rocco, Zoya Panahloo, David J. Kuter, Derralynn Hughes
Molecular Genetics and Metabolism, 2017
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Giuseppe Indolfi, Francesco Papadia, Maja Di Rocco, Lorenzo D'Antiga, Patricia Crock, Komal Vora, Scott Nightingale, Helen Michelakakis, Anastasia Garoufi, Lilia Lykopoulou, Stefano Bertolini, Sebastiano Calandra
Atherosclerosis, 2017
International physician survey on management of FOP: A modified Delphi study
Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo, Frederick S. Kaplan
Orphanet Journal of Rare Diseases, 2017
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes
Anna Pichiecchio, Marta Rossi, Claudia Cinnante, Giovanna Stefania Colafati, Roberto De Icco, Rossella Parini, Francesca Menni, Francesca Furlan, Alberto Burlina, Michele Sacchini, Maria Alice Donati, Simona Fecarotta, Roberto Della Casa, Federica Deodato, Roberta Taurisano, Maja Di Rocco
Muscle and Nerve, 2017
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo
Journal of Experimental Medicine, 2017
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J. Mitchell, Rossella Parini, Maja Di Rocco, Boris Hugle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner-Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Solyom, James S. Norris, Xingxuan He, Edward H. Schuchman, Thierry Levade, Jeffrey A. Medin
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2017
Open issues in Mucopolysaccharidosis type I-Hurler
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Orphanet Journal of Rare Diseases, 2017
Widening the heterogeneity of leigh syndrome: Clinical, biochemical, and neuroradiologic features in a patient harboring a NDUFA10 Mutation
Francesca Minoia, Marta Bertamino, Paolo Picco, Mariasavina Severino, Andrea Rossi, Chiara Fiorillo, Carlo Minetti, Claudia Nesti, Filippo Maria Santorelli, Maja Di Rocco
Jimd Reports, 2017
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe
Nadia Belmatoug, Maja Di Rocco, Cristina Fraga, Pilar Giraldo, Derralynn Hughes, Elena Lukina, Pierre Maison-Blanche, Martin Merkel, Claus Niederau, Ursula Plӧckinger, Johan Richter, Thomas M. Stulnig, Stephan vom Dahl, Timothy M. Cox
European Journal of Internal Medicine, 2017
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva
Mariasavina Severino, Marta Bertamino, Domenico Tortora, Giovanni Morana, Sara Uccella, Renata Bocciardi, Roberto Ravazzolo, Andrea Rossi, Maja Di Rocco
Journal of Medical Genetics, 2016
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Plos Genetics, 2016
Standardization of MRI and scintigraphic scores for assessing the severity of bone marrow involvement in adult patients with type 1 gaucher disease
Giuliano Mariani, Marzio Perri, Fabrizio Minichilli, Simona Ortori, Silvia Linari, Fiorina Giona, Maja Di Rocco, Maria Domenica Cappellini, Federica Guidoccio, Paola Anna Erba
American Journal of Roentgenology, 2016
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Simon A. Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David Finegold, J. Jay Gargus, Ornella Guardamagna, Christian Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila A. Selim, Chester B. Whitley, Osama Zaki, Anthony G. Quinn
Genetics in Medicine, 2016
Clinical Features of Lysosomal Acid Lipase Deficiency
Barbara K. Burton, Patrick B. Deegan, Gregory M. Enns, Ornella Guardamagna, Simon Horslen, Gerard K. Hovingh, Steve J. Lobritto, Vera Malinova, Valerie A. McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut‐Cegielska, Chester B. Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G. Quinn
Journal of Pediatric Gastroenterology and Nutrition, 2015
New insights into central nervous system involvement in FOP: Case report and review of the literature
Marta Bertamino, Mariasavina Severino, Maria Cristina Schiaffino, Maria Luisa Garrè, Renata Bocciardi, Roberto Ravazzolo, Andrea Rossi, Maja Di Rocco
American Journal of Medical Genetics Part A, 2015
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva
Nathalie Bravenboer, Dimitra Micha, James T Triffit, Alex N Bullock, Roberto Ravazollo, Renata Bocciardi, Maja di Rocco, J Coen Netelenbos, Peter Ten Dijke, Gonzalo Sánchez-Duffhues, Fred S Kaplan, Eileen M Shore, Robert J Pignolo, Petra Seemann, Francesc Ventura, Genevieve Beaujat, Elizabeth M W Eekhoff, Gerard Pals
European Journal of Human Genetics, 2015
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease
Maja Di Rocco, Rita Barone, Annalisa Madeo, Agata Fiumara
Pediatric Neurology, 2015
A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency
Barbara K. Burton, Manisha Balwani, François Feillet, Ivo Barić, T. Andrew Burrow, Carmen Camarena Grande, Mahmut Coker, Alejandra Consuelo-Sánchez, Patrick Deegan, Maja Di Rocco, Gregory M. Enns, Richard Erbe, Fatih Ezgu, Can Ficicioglu, Katryn N. Furuya, John Kane, Christina Laukaitis, Eugen Mengel, Edward G. Neilan, Scott Nightingale, Heidi Peters, Maurizio Scarpa, K. Otfried Schwab, Vratislav Smolka, Vassili Valayannopoulos, Marnie Wood, Zachary Goodman, Yijun Yang, Stephen Eckert, Sandra Rojas-Caro, Anthony G. Quinn
New England Journal of Medicine, 2015
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Marisol Mirabelli-Badenier, Mariasavina Severino, Barbara Tappino, Domenico Tortora, Francesca Camia, Clelia Zanaboni, Fabia Brera, Enrico Priolo, Andrea Rossi, Roberta Biancheri, Maja Di Rocco, Mirella Filocamo
Metabolic Brain Disease, 2015
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study
On behalf of the NPC Registry investigators, Marc C Patterson, Eugen Mengel, Marie T Vanier, Barbara Schwierin, Audrey Muller, Peter Cornelisse, Mercè Pineda
Orphanet Journal of Rare Diseases, 2015
Erratum to: Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice [Adv Ther, (2014), 31, 1197-1212, DOI 10.1007/s12325-014-0174-0]
Gaetano Giuffrida, Maria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco, Giovanni Iolascon
Advances in Therapy, 2015
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion
Elisa Tassano, Vidhya Jagannathan, Cord Drögemüller, Massimiliano Leoni, Marjo K. Hytönen, Mariasavina Severino, Stefania Gimelli, Cristina Cuoco, Maja Di Rocco, Kirsi Sanio, Andrew K. Groves, Tosso Leeb, Giorgio Gimelli
American Journal of Medical Genetics Part A, 2015
Lack of prolidase causes a bone phenotype both in human and in mouse
Roberta Besio, Silvia Maruelli, Roberta Gioia, Isabella Villa, Peter Grabowski, Orla Gallagher, Nicholas J. Bishop, Sarah Foster, Ersilia De Lorenzi, Raffaella Colombo, Josè Luis Dapena Diaz, Haether Moore-Barton, Charu Deshpande, Halil Ibrahim Aydin, Aysegul Tokatli, Bartlomiej Kwiek, Cigdem Seher Kasapkara, Esra Ozsoy Adisen, Mehmet Ali Gurer, Maja Di Rocco, James M. Phang, Teresa M. Gunn, Ruggero Tenni, Antonio Rossi, Antonella Forlino
Bone, 2015
Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi, Lorenzo Ferri, Serena Catarzi, Catia Cavicchi, Elena Procopio, Maria Alice Donati, Anna Ficcadenti, Agata Fiumara, Rita Barone, Livia Garavelli, Maja Di Rocco, Mirella Filocamo, Daniela Antuzzi, Maurizio Scarpa, Sean D. Mooney, Biao Li, Anastasia Skouma, Sebastiano Bianca, Daniela Concolino, Rosario Casalone, Elena Monti, Marilena Pantaleo, Sabrina Giglio, Renzo Guerrini, Rossella Parini, Amelia Morrone
Human Mutation, 2015
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Simona Fecarotta, Alfonso Romano, Roberto Della Casa, Ennio Del Giudice, Diana Bruschini, Giuseppina Mansi, Bruno Bembi, Andrea Dardis, Agata Fiumara, Maja Di Rocco, Graziella Uziel, Anna Ardissone, Dario Roccatello, Mirella Alpa, Enrico Bertini, Adele D’Amico, Carlo Dionisi-Vici, Federica Deodato, Stefania Caviglia, Antonio Federico, Silvia Palmeri, Orazio Gabrielli, Lucia Santoro, Alessandro Filla, Cinzia Russo, Giancarlo Parenti, Generoso Andria
Orphanet Journal of Rare Diseases, 2015
Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: Does it play a role in neuroimaging pattern-recognition approach?
Giovanni Morana, Claudio Bruno, Maja Di Rocco, Pasaquale Striano, Eusa De Grandis, Edvige Veneselli, Andrea Rossi, Roberta Biancheri, Marisol Mirabelli-Badenier
Neuropediatrics, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon‐Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen M. Baildam, Nadia Bahi‐Buisson, Kathryn M. Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward M. Blair, Miriam Bloom, Alberto B. Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate E. Chandler, David A. Chitayat, Abigail E. Collins, Concepcion Sierra Corcoles, Nuno J.V. Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D′Arrigo, Christian G.E.L. De Goede, Corinne De Laet, Liesbeth M.H. De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C. Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R. Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J. Lim, Jean‐Pierre S.‐M. Lin, Tarja Linnankivi, Mark T. Mackay, Daphna R. Marom, Charles Marques Lourenço, Shane A. McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez‐Enamorado, Patrick J. Oades, Ivana Olivieri, John R. Ostergaard, Belén Pérez‐Dueñas, Julie S. Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A. Segers, Gyanranjan P. Sinha, Doriette Soler, Ronen Spiegel, Tommy I. Stödberg, Rachel Straussberg, Kathryn J. Swoboda, Mohnish Suri, Uta Tacke, Tiong Y. Tan, Johann te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S. van der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B. Wallace, Evangeline Wassmer, Hannah J. Webb, William P. Whitehouse, Robyn N. Whitney, Maha S. Zaki, Sameer M. Zuberi, John H. Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi, Gillian I. Rice
American Journal of Medical Genetics Part A, 2015
Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency
Stefano Giardino, Edoardo Lanino, Giuseppe Morreale, Annalisa Madeo, Maja Di Rocco, Marco Gattorno, Maura Faraci
Pediatrics, 2015
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations
Mariasavina Severino, Andrea Accogli, Giorgio Gimelli, Andrea Rossi, Svetlana Kotzeva, Maja Di Rocco, Patrizia Ronchetto, Cristina Cuoco, Elisa Tassano
Molecular Cytogenetics, 2015
A nationwide survey of PMM2-CDG in Italy: High frequency of a mild neurological variant associated with the L32R mutation
Rita Barone, M. Carrozzi, R. Parini, R. Battini, D. Martinelli, M. Elia, M. Spada, F. Lilliu, G. Ciana, A. Burlina, V. Leuzzi, M. Leoni, L. Sturiale, G. Matthijs, J. Jaeken, M. Di Rocco, D. Garozzo, A. Fiumara
Journal of Neurology, 2015
Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice
Gaetano Giuffrida, Maria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco, Giovanni Iolascon
Advances in Therapy, 2014
Myhre and LAPS syndromes: Clinical and molecular review of 32 patients
Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Philippe M Campeau, Anne Destree, Maja Di Rocco, Dian Donnai, Raoul Hennekam, Delphine Heron, Sébastien Jacquemont, Peter Kannu, Angela E Lin, Sylvie Manouvrier-Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas-Rothschild, Marlène Rio, Marleen Simon, Irene Stolte-Dijkstra, James R Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloes, Arnold Munnich, Valérie Cormier-Daire
European Journal of Human Genetics, 2014
Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm
Maja Di Rocco, Generoso Andria, Federica Deodato, Fiorina Giona, Concetta Micalizzi, Andrea Pession
Pediatric Blood and Cancer, 2014
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant
Julia Haupt, Alexandra Deichsel, Katja Stange, Cindy Ast, Renata Bocciardi, Roberto Ravazzolo, Maja Di Rocco, Paola Ferrari, Antonio Landi, Frederick S. Kaplan, Eileen M. Shore, Carsten Reissner, Petra Seemann
Human Molecular Genetics, 2014
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders
Stefania Gimelli, Valeria Capra, Maja Di Rocco, Massimiliano Leoni, Marisol Mirabelli-Badenier, Maria Cristina Schiaffino, Patrizia Fiorio, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano
Molecular Cytogenetics, 2014
Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders
Stefania Gimelli, Elisavet Stathaki, Frédérique Béna, Massimiliano Leoni, Maja Di Rocco, Cristina Cuoco, Elisa Tassano
American Journal of Medical Genetics Part A, 2014
Quality of life in adult patients with glycogen storage disease type i: Results of a multicenter Italian study
Annalisa Sechi, Laura Deroma, Sabrina Paci, Annunziata Lapolla, Francesca Carubbi, Alberto Burlina, Miriam Rigoldi, Maja Di Rocco
Jimd Reports, 2014
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome
Gabrielle R Wilson, Jasmine Sunley, Katherine R Smith, Kate Pope, Catherine J Bromhead, Elizabeth Fitzpatrick, Maja Di Rocco, Maurice van Steensel, David J Coman, Richard J Leventer, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart
European Journal of Human Genetics, 2014
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I
S. Assereto, A. Robbiano, M. Di Rocco, A. Rossi, D. Cassandrini, C. Panicucci, G. Brigati, R. Biancheri, C. Bruno, C. Minetti, H. Trucks, T. Sander, F. Zara, E. Gazzerro
Clinical Genetics, 2014
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
Stefania Gimelli, Massimiliano Leoni, Maja Di Rocco, Gianluca Caridi, Simona Porta, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano
Molecular Cytogenetics, 2013
99mTc-sestamibi scintigraphy to monitor the long-term efficacy of enzyme replacement therapy on bone marrow infiltration in patients with gaucher disease
Paola A. Erba, Fabrizio Minichilli, Fiorina Giona, Silvia Linari, James Dambrosia, Anna Pierini, Mirella Filocamo, Maja Di Rocco, Ferdinando Buffoni, Roscoe O. Brady, Giuliano Mariani
Journal of Nuclear Medicine, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
Roberta Biancheri, Denise Cassandrini, Francesca Pinto, Rosanna Trovato, Maja Di Rocco, Marisol Mirabelli-Badenier, Marina Pedemonte, Chiara Panicucci, Holger Trucks, Thomas Sander, Federico Zara, Andrea Rossi, Pasquale Striano, Carlo Minetti, Filippo Maria Santorelli
Journal of Neurology, 2013
Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
Alessandro Di Rocco, Andrea Loggini, Maja Di Rocco, Pietro Di Rocco, Roger P Rossi, Giorgio Gimelli, Carl Bazil
BMC Neurology, 2013
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2
E. Tassano, M. Di Rocco, S. Signa, G. Gimelli
American Journal of Medical Genetics Part A, 2013
Revised recommendations for the management of Gaucher disease in children
Paige Kaplan, Hagit Baris, Linda De Meirleir, Maja Di Rocco, Amal El-Beshlawy, Martina Huemer, Ana Maria Martins, Ioana Nascu, Marianne Rohrbach, Lynne Steinbach, Ian J. Cohen
European Journal of Pediatrics, 2013
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study
Annalisa Sechi, Laura Deroma, Annunziata Lapolla, Sabrina Paci, Daniela Melis, Alberto Burlina, Francesca Carubbi, Miriam Rigoldi, Maja Di Rocco
Journal of Inherited Metabolic Disease, 2013
The shrunken, bright cerebellum: A characteristic MRI finding in congenital disorders of glycosylation type 1a
P. Feraco, M. Mirabelli-Badenier, M. Severino, M.G. Alpigiani, M. Di Rocco, R. Biancheri, A. Rossi
American Journal of Neuroradiology, 2012
In-frame mutations in exon 1 of SKI cause dominant shprintzen-goldberg syndrome
Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, Pierre Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sanchez Del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod-Beroud, Christophe Beroud, Jeanne Amiel, Valérie Cormier-Daire, Jean-Baptiste Rivière, Catherine Boileau, Anne De Paepe, Laurence Faivre
American Journal of Human Genetics, 2012
Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells
Daniela Verzola, Annamaria Famà, Barbara Villaggio, Maia Di Rocco, Alchiede Simonato, Elena D'Amato, Fabio Gianiorio, Giacomo Garibotto
Journal of Inherited Metabolic Disease, 2012
Minimal disease activity in Gaucher disease: Criteria for definition
Maja Di Rocco, Generoso Andria, Bruno Bembi, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Michelina Sibilio, Vincenzo Spina, Maria Domenica Cappellini
Molecular Genetics and Metabolism, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
Nuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos‐Xavier, Cynthia F. Bartels, Beyhan Tuysuz, Yasemin Alanay, Rolando Cimaz, Valerie Cormier‐Daire, Maja Di Rocco, Hans‐Christoph Duba, Nursel H. Elcioglu, Francesca Forzano, Toni Hospach, Esra Kilic, Jasmin B. Kuemmerle‐Deschner, Geert Mortier, Sonja Mrusek, Sheela Nampoothiri, Ewa Obersztyn, Richard M. Pauli, Angelo Selicorni, Romano Tenconi, Sheila Unger, G. Eda Utine, Michael Wright, Bernhard Zabel, Matthew L. Warman, Andrea Superti‐Furga, Luisa Bonafé
American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2012
Early miglustat therapy in infantile Niemann-Pick disease type C
Maja Di Rocco, Andrea Dardis, Annalisa Madeo, Rita Barone, Agata Fiumara
Pediatric Neurology, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo, Maura Masciadri, Cristina Gervasini, Jacopo Azzollini, Anna Cereda, Giuseppe Zampino, Oskar Haas, Gioacchino Scarano, Maja Di Rocco, Palma Finelli, Romano Tenconi, Angelo Selicorni, Lidia Larizza
European Journal of Human Genetics, 2012
Mucopolysaccharidosis type I: Importance of early diagnosis in the perspective of recent therapeutical advances
Medico E Bambino, 2012
Is ATRX gene mutation a cause of mental retardation and epilepsy? Description of two brothers
Bollettino Lega Italiana Contro L Epilessia, 2012
Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia
Giuliana Cangemi, Sebastiano Barco, Laura Barbagallo, Maja Di Rocco, Sabrina Paci, Marcello Giovannini, Giacomo Biasucci, Rosanna Lia, Giovanni Melioli
Scandinavian Journal of Clinical and Laboratory Investigation, 2012
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrée, Maja di Rocco, Delphine Héron, Sébastien Jacquemont, Sandrine Marlin, Marleen Simon, John Tolmie, Alain Verloes, Jean-Laurent Casanova, Arnold Munnich, Valérie Cormier-Daire
Nature Genetics, 2012
Hypomyelination and congenital cataract: Broadening the clinical phenotype
Roberta Biancheri, Federico Zara, Andrea Rossi, Mikael Mathot, Marie Cecile Nassogne, Cengiz Yalcinkaya, Ozdem Erturk, Behyan Tuysuz, Maja Di Rocco, Elisabetta Gazzerro, Marianna Bugiani, Resie van Spaendonk, Erik A. Sistermans, Carlo Minetti, Marjo S. van der Knaap, Nicole I. Wolf
Archives of Neurology, 2011
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3
Isabella Giovannoni, Filippo Maria Santorelli, Manila Candusso, Maja Di Rocco, Emanuele Bellacchio, Francesco Callea, Paola Francalanci
Digestive and Liver Disease, 2011
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings
Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón, Elena Procopio, Serena Catarzi, Lorenzo Ferri, Carmen Guido, Paola Martelli, Rossella Parini, Daniela Antuzzi, Roberta Battini, Michela Sibilio, Alessandro Simonati, Elena Fontana, Alessandro Salviati, Gulcin Akinci, Cristina Cereda, Carlo Dionisi-Vici, Francesca Deodato, Adele d'Amico, Alessandra d'Azzo, Enrico Bertini, Mirella Filocamo, Maurizio Scarpa, Maja di Rocco, Cynthia J. Tifft, Federica Ciani, Serena Gasperini, Elisabetta Pasquini, Renzo Guerrini, Maria Alice Donati, Amelia Morrone
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: Identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew Mort, Camillo Rosano, Anna Tylki-Szymanska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa, Giancarlo Parenti, Daniela Antuzzi, Jaime Dalmau, Maja Di Rocco, Carlo Dionisi Vici, Ilyas Okur, Jordi Rosell, Attilio Rovelli, Francesca Furlan, Miriam Rigoldi, Andrea Biondi, David N Cooper, Rossella Parini
Human Mutation, 2011
Brain and spine MRI features of Hunter disease: Frequency, natural evolution and response to therapy
Renzo Manara, Elena Priante, Marco Grimaldi, Lucia Santoro, Luca Astarita, Rita Barone, Daniela Concolino, Maja Di Rocco, Maria Alice Donati, Simona Fecarotta, Anna Ficcadenti, Agata Fiumara, Francesca Furlan, Irene Giovannini, Franco Lilliu, Rodica Mardari, Gabriele Polonara, Elena Procopio, Angelica Rampazzo, Andrea Rossi, Graziolina Sanna, Rossella Parini, Maurizio Scarpa
Journal of Inherited Metabolic Disease, 2011
Erratum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization (Nature Genetics (2010) 42 (303-312))
Andrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Utine, Tanju B Özkan, Jonas Denecke, Jurica Vukovic, Maja Di Rocco, Hanna Mandel, Hakan Cangul, Randolph P Matthews, Steve G Thomas, Joshua Z Rappoport, Irwin M Arias, Hartwig Wolburg, A S Knisely, Deirdre A Kelly, Ferenc Müller, Eamonn R Maher, Paul Gissen
Nature Genetics, 2011
Diagnosis and follow up of Fabry disease
Area Pediatrica, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N. Cooper, Mirella Filocamo
Human Mutation, 2010
Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies
D. Cassandrini, R. Biancheri, A. Tessa, M. Di Rocco, M. Di Capua, C. Bruno, P.S. Denora, S. Sartori, A. Rossi, P. Nozza, F. Emma, P. Mezzano, M.R. Politi, A.M. Laverda, F. Zara, L. Pavone, A. Simonati, V. Leuzzi, F.M. Santorelli, E. Bertini
Neurology, 2010
Angelman syndrome: EEG's role
Bollettino Lega Italiana Contro L Epilessia, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in hunter syndrome
Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter W. Thompson, Fabio Corsolini, Maja Di Rocco, Bruno Bembi, Stefano Regis, David N. Cooper, Mirella Filocamo
Human Mutation, 2010
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
Andrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Utine, Tanju B Özkan, Jonas Denecke, Jurica Vukovic, Maja Di Rocco, Hanna Mandel, Hakan Cangul, Randolph P Matthews, Steve G Thomas, Joshua Z Rappoport, Irwin M Arias, Hartwig Wolburg, A S Knisely, Deirdre A Kelly, Ferenc Müller, Eamonn R Maher, Paul Gissen
Nature Genetics, 2010
Stüve-Wiedemann syndrome: Long-term follow-up and genetic heterogeneity
C Jung, N Dagoneau, G Baujat, M Le Merrer, A David, M Di Rocco, B Hamel, A Mégarbané, A Superti‐Furga, S Unger, A Munnich, V Cormier‐Daire
Clinical Genetics, 2010
Guidelines for the restart of imiglucerase in patients with Gaucher disease: Recommendations from the European Working Group on Gaucher disease
Carla E.M. Hollak, Johannes M.F.G. Aerts, Nadia Belmatoug, Bruno Bembi, Olaf Bodamer, Domenica Cappellini, Tanya Collin-Histed, Timothy M. Cox, Patrick Deegan, Pilar Giraldo, Derralynn Hughes, Elena Lukina, Jeremy Manuel, Helen Michelakakis, Maja Di Rocco, Ashok Vellodi, Ari Zimran
Blood Cells Molecules and Diseases, 2010
Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11
L. Siri, F. M. Battaglia, A. Tessa, A. Rossi, M. Di. Rocco, S. Facchinetti, M. Mascaretti, F. M. Santorelli, E. Veneselli, R. Biancheri
Neuropediatrics, 2010
Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
Carla E.M. Hollak, Stephan vom Dahl, Johannes M.F.G. Aerts, Nadia Belmatoug, Bruno Bembi, Yossi Cohen, Tanya Collin-Histed, Patrick Deegan, Laura van Dussen, Pilar Giraldo, Eugen Mengel, Helen Michelakakis, Jeremy Manuel, Martin Hrebicek, Rosella Parini, Jörg Reinke, Maja di Rocco, Miguel Pocovi, Maria Clara Sa Miranda, Anna Tylki-Szymanska, Ari Zimran, Timothy M. Cox
Blood Cells Molecules and Diseases, 2010
Disease severity scoring systems for Gaucher disease
Maja Di Rocco
Clinical Therapeutics, 2009
Enhancing cranial nerves and cauda equina: An emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and Krabbe disease
G. Morana, R. Biancheri, M. DiRocco, M. Filocamo, M. G. Marazzi, A. Pessagno, A. Rossi
Neuropediatrics, 2009
Type II sialidosis: Review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
A. Caciotti, M. Rocco, M. Filocamo, S. Grossi, F. Traverso, A. d’Azzo, C. Cavicchi, A. Messeri, R. Guerrini, E. Zammarchi, M. A. Donati, Amelia Morrone
Journal of Neurology, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients
Barbara Tappino, Nadia A. Chuzhanova, Stefano Regis, Andrea Dardis, Fabio Corsolini, Marina Stroppiano, Emmanuel Tonoli, Tommaso Beccari, Camillo Rosano, Jan Mucha, Mariana Blanco, Marina Szlago, Maja Di Rocco, David N. Cooper, Mirella Filocamo
Human Mutation, 2009
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis
E. De Grandis, M. Di Rocco, A. Pessagno, E. Veneselli, A. Rossi
American Journal of Neuroradiology, 2009
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme
Andrea Dardis, Mirella Filocamo, Serena Grossi, Giovanni Ciana, Silvana Franceschetti, Silvia Dominissini, Guido Rubboli, Maya Di Rocco, Bruno Bembi
Molecular Genetics and Metabolism, 2009
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: Identification and structural modeling of novel mutations
Tatiana Fancello, Andrea Dardis, Camillo Rosano, Patrizia Tarugi, Barbara Tappino, Stefania Zampieri, Elisa Pinotti, Fabio Corsolini, Simona Fecarotta, Adele D’Amico, Maja Di Rocco, Graziella Uziel, Sebastiano Calandra, Bruno Bembi, Mirella Filocamo
Neurogenetics, 2009
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
Livia Pisciotta, Raffaele Fresa, Antonella Bellocchio, Elisabetta Pino, Virgilia Guido, Alfredo Cantafora, Maja Di Rocco, Sebastiano Calandra, Stefano Bertolini
Molecular Genetics and Metabolism, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma
Emanuele Persichetti, Nadia A. Chuzhanova, Andrea Dardis, Barbara Tappino, Sandra Pohl, Nick S.T. Thomas, Camillo Rosano, Chiara Balducci, Silvia Paciotti, Silvia Dominissini, Anna Lisa Montalvo, Michela Sibilio, Rossella Parini, Miriam Rigoldi, Maja Di Rocco, Giancarlo Parenti, Aldo Orlacchio, Bruno Bembi, David N. Cooper, Mirella Filocamo, Tommaso Beccari
Human Mutation, 2009
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1
P.S. Kishnani, M. DiRocco, P. Kaplan, A. Mehta, G.M. Pastores, S.E. Smith, A.C. Puga, R.M. Lemay, N.J. Weinreb
Molecular Genetics and Metabolism, 2009
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
Derek E. Neilson, Mark D. Adams, Caitlin M.D. Orr, Deborah K. Schelling, Robert M. Eiben, Douglas S. Kerr, Jane Anderson, Alexander G. Bassuk, Ann M. Bye, Anne-Marie Childs, Antonia Clarke, Yanick J. Crow, Maja Di Rocco, Christian Dohna-Schwake, Gregor Dueckers, Alfonso E. Fasano, Artemis D. Gika, Dimitris Gionnis, Mark P. Gorman, Padraic J. Grattan-Smith, Annette Hackenberg, Alice Kuster, Markus G. Lentschig, Eduardo Lopez-Laso, Elysa J. Marco, Sotiria Mastroyianni, Julie Perrier, Thomas Schmitt-Mechelke, Serenella Servidei, Angeliki Skardoutsou, Peter Uldall, Marjo S. van der Knaap, Karrie C. Goglin, David L. Tefft, Cristin Aubin, Philip de Jager, David Hafler, Matthew L. Warman
American Journal of Human Genetics, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromes
A. Spinazzola, F. Invernizzi, F. Carrara, E. Lamantea, A. Donati, M. DiRocco, I. Giordano, M. Meznaric‐Petrusa, E. Baruffini, I. Ferrero, M. Zeviani
Journal of Inherited Metabolic Disease, 2009
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: Confirmations and advancements
Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco, Roberto Ravazzolo
European Journal of Human Genetics, 2009
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto, Roberta Biancheri, Estelle Fedirko, Maja Di Rocco, Clarissa Bueno, Alessandro Malandrini, Roberta Battini, Elisabeth Sickl, Maria Fulvia de Leva, Odile Boespflug-Tanguy, Gabriella Silvestri, Alessandro Simonati, Edith Said, Andreas Ferbert, Chiara Criscuolo, Karl Heinimann, Anna Modoni, Peter Weber, Silvia Palmeri, Martina Plasilova, Flavia Pauri, Denise Cassandrini, Carla Battisti, Antonella Pini, Michela Tosetti, Erwin Hauser, Marcella Masciullo, Roberto Di Fabio, Francesca Piccolo, Elodie Denis, Giovanni Cioni, Roberto Massa, Elvio Della Giustina, Olga Calabrese, Marina A.B. Melone, Giuseppe De Michele, Antonio Federico, Enrico Bertini, Alexandra Durr, Knut Brockmann, Marjo S. van der Knaap, Mayana Zatz, Alessandro Filla, Alexis Brice, Giovanni Stevanin, Filippo M. Santorelli
Human Mutation, 2009
Molecular analysis of ARSA and PSAP genes in twenty-one italian patients with metachromatic leukodystrophy: Identification and functional characterization of 11 novel ARSA alleles
Serena Grossi, Stefano Regis, Camillo Rosano, Fabio Corsolini, Graziella Uziel, Maria Sessa, Maja Di Rocco, Giancarlo Parenti, Federica Deodato, Vincenzo Leuzzi, Roberta Biancheri, Mirella Filocamo
Human Mutation, 2008
Experience of the Liguria regional center for rare diseases
Minerva Pediatrica, 2008
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
M. Di Rocco, F. Giona, F. Carubbi, S. Linari, F. Minichilli, R. O. Brady, G. Mariani, M. D. Cappellini
Haematologica, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndrome
Claudio Bruno, Enrico Bertini, Maja Di Rocco, Denise Cassandrini, Giuseppe Ruffa, Teresa De Toni, Marco Seri, Marco Spada, Giovanni Li Volti, Adele D’Amico, Federica Trucco, Marcello Arca, Carlo Casali, Corrado Angelini, Salvatore DiMauro, Carlo Minetti
Biochemical and Biophysical Research Communications, 2008
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease
Maja Di Rocco, Maria Grazia Calevo, Marina Taro’, Daniela Melis, Anna Elsa Maria Allegri, Giancarlo Parenti
Molecular Genetics and Metabolism, 2008
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
MG Pittis, M Donnarumma, ALE Montalvo, S Dominissini, M Kroos, C Rosano, M Stroppiano, MG Bianco, MA Donati, G Parenti, A D'Amico, G Ciana, M Di Rocco, A Reuser, B Bembi, M Filocamo
Human Mutation, 2008
Glycogen storage disease type II: Clinical overview
Acta Myologica, 2007
Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations
D. Chiodo, M. DiRocco, C. Gandolfo, G. Morana, D. Buzzi, A. Rossi
Neuropediatrics, 2007
Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes
Francesca Faravelli, Marina Murdolo, Giuseppe Marangi, Franca Dagna Bricarelli, Maja Di Rocco, Marcella Zollino
American Journal of Medical Genetics Part A, 2007
Gastric fibroid polyp in a 4-month-old girl with Costello syndrome
La Pediatria Medica E Chirurgica Medical and Surgical Pediatrics, 2007
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency.
M. Di Rocco, A. R. Fantasia, M. Taro, A. Loy, A. Forlino, A. Martini
Journal of Inherited Metabolic Disease, 2007
Unnecessary milk elimination diets in children with atopic dermatitis
J.L. Sinagra, V. Bordignon, C. Ferraro, A. Cristaudo, M. Di Rocco, B. Amorosi, B. Capitanio
Pediatric Dermatology, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Anthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, Giovanna Sersale, Torben Lübke, Paola di Natale, Maria Pia Cosma, Andrea Ballabio
Human Mutation, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
Michela Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo
Human Mutation, 2007
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes
N. Dagoneau, S. Bellais, P. Blanchet, P. Sarda, L.I. Al-Gazali, M. Di Rocco, C. Huber, F. Djouadi, C. Le Goff, A. Munnich, V. Cormier-Daire
American Journal of Human Genetics, 2007
The Italian XLMR bank: A clinical and molecular database
C. Pescucci, R. Caselli, F. Mari, C. Speciale, F. Ariani, M. Bruttini, K. Sampieri, M.A. Mencarelli, E. Scala, I. Longo, R. Artuso, A. Renieri, I. Meloni, the Members of the XLMR Italian Network
Human Mutation, 2007
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
Maja Di Rocco, Ubaldo Caruso, Egill Briem, Andrea Rossi, Anna E.M. Allegri, Davide Buzzi, Valeria Tiranti
Molecular Genetics and Metabolism, 2006
Clinical and molecular genetic features of ARC syndrome
Paul Gissen, Louise Tee, Colin A. Johnson, Emmanuelle Genin, Almuth Caliebe, David Chitayat, Carol Clericuzio, Jonas Denecke, Maja Di Rocco, Björn Fischler, David FitzPatrick, Angeles García-Cazorla, Delphine Guyot, Sebastien Jacquemont, Sibylle Koletzko, Bruno Leheup, Hanna Mandel, Maria Teresa Vieira Sanseverino, Roderick H. J. Houwen, Patrick J. McKiernan, Deirdre A. Kelly, Eamonn R. Maher
Human Genetics, 2006
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
Alessandra Pangrazio, Pietro Luigi Poliani, André Megarbane, Gérard Lefranc, Edoardo Lanino, Maja Di Rocco, Francesca Rucci, Franco Lucchini, Maria Ravanini, Fabio Facchetti, Mario Abinun, Paolo Vezzoni, Anna Villa, Annalisa Frattini
Journal of Bone and Mineral Research, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
Susanna Lualdi, Maja Di Rocco, Fabio Corsolini, Marco Spada, Bruno Bembi, Giovanna Cotugno, Roberta Battini, Marina Stroppiano, Maria Gabriela Pittis, Mirella Filocamo
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2006
Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients
Maria Francesca Bedeschi, Maria Clara Bonaglia, Rita Grasso, Alda Pellegri, Rosaria Rita Garghentino, Maria Amalia Battaglia, Anna Maria Panarisi, Maja Di Rocco, Umberto Balottin, Nereo Bresolin, Maria Teresa Bassi, Renato Borgatti
Pediatric Neurology, 2006
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
Stephan vom Dahl, Ludger Poll, Maja Di Rocco, Giovanni Ciana, Carmencita Denes, Giuliano Mariani, Mario Maas
Current Medical Research and Opinion, 2006
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino
Journal of Medical Genetics, 2006
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
S. Lucchiari, S. Pagliarani, S. Salani, M. Filocamo, M. Di Rocco, D. Melis, C. Rodolico, O. Musumeci, A. Toscano, N. Bresolin, G.P. Comi
Human Mutation, 2006
Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature
M. Di Rocco, T. Hennet, C. E. Grubenmann, S. Pagliardini, A. E. M. Allegri, C. G. Frank, M. Aebi, S. Vignola, J. Jaeken
Journal of Inherited Metabolic Disease, 2005
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders
M. Di Rocco, A. Rossi, G. Parenti, A. E. M. Allegri, M. Filocamo, A. Pessagno, P. Tortori-Donati, C. Minetti, R. Biancheri
Neuropediatrics, 2005
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: A multicentre retrospective study
D. Melis, G. Parenti, R. Gatti, R. Della Casa, R. Parini, E. Riva, A. B. Burlina, C. Dionisi Vici, M. Di Rocco, F. Furlan, M. Torcoletti, F. Papadia, A. Donati, V. Benigno, G. Andria
Clinical Endocrinology, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method
Susanna Lualdi, Stefano Regis, Maja Di Rocco, Fabio Corsolini, Marina Stroppiano, Daniela Antuzzi, Mirella Filocamo
Human Mutation, 2005
Nevoid Basal Cell Carcinoma Syndrome in infants: Improving diagnosis
L. Pastorino, R. Cusano, C. Baldo, F. Forzano, S. Nasti, M. Di Rocco, M. Carta, F. Dagna Bricarelli, F. Faravelli, G. Bianchi Scarrà
Child Care Health and Development, 2005
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease [1]
Mirella Filocamo, Serena Grossi, Marina Stroppiano, Paolo Tortori-Donati, Stefano Regis, Anna Allegri, Maja Di Rocco
American Journal of Medical Genetics, 2005
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2
A Zankl, L Bonafé, V Calcaterra, M Di Rocco, A Superti‐Furga
Clinical Genetics, 2005
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
Massimiliano Rossi, Pietro Vajro, Raffaele Iorio, Antonella Battagliese, Nicola Brunetti‐Pierri, Gaetano Corso, Maja Di Rocco, Paola Ferrari, Francesco Rivasi, Raffaella Vecchione, Generoso Andria, Giancarlo Parenti
American Journal of Medical Genetics, 2005
Fabry disease in Italy: First epidemiological and collaborative study
Annali Italiani Di Medicina Interna, 2004
MRI in acute intermittent maple syrup urine disease
M. Di Rocco, R. Biancheri, A. Rossi, A. E.M. Allegri, V. Vecchi, P. Tortori-Donati
Neurology, 2004
Genetic disorders affecting white matter in the pediatric age
Maja Di Rocco, Roberta Biancheri, Andrea Rossi, Mirella Filocamo, Paolo Tortori‐Donati
American Journal of Medical Genetics Neuropsychiatric Genetics, 2004
Unusual manifestations of infections due to Mycoplasma pneumoniae in children
Infezioni in Medicina, 2004
Arg113His mutation in eIF2Bε as cause of leukoencephalopathy in adults
M. S. van der Knaap, P. A.J. Leegwater, C. G.M. van Berkel, C. Brenner, E. Storey, M. Di Rocco, F. Salvi, J. C. Pronk
Neurology, 2004
Cerebro-fronto-facial syndrome: Report of a further case
F. Forzano, F. Faravelli, M. Di Rocco
Clinical Dysmorphology, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, Janneke M Stapelbroek, Tim Forshew, Wendy N Cooper, Patrick J McKiernan, Leo W J Klomp, Andrew A M Morris, James E Wraith, Patricia McClean, Sally A Lynch, Richard J Thompson, Bryan Lo, Oliver W Quarrell, Maja Di Rocco, Richard C Trembath, Hanna Mandel, S Wali, Fiona E Karet, A S Knisely, Roderick H J Houwen, Deirdre A Kelly, Eamonn R Maher
Nature Genetics, 2004
Neonatal lupus and a seronegative mother
M Gattorno, M Di Rocco, A Buoncompagni, P Picco, PL Meroni, A Martini
Lancet, 2004
Gaucher disease phenotype [1] (multiple letters)
Maja Di Rocco, Anna E.M. Allegri, Serena Grossi, Mirella Filocamo
Journal of Pediatrics, 2004
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
V. Ricci, M. Stroppiano, F. Corsolini, M. Di Rocco, G. Parenti, S. Regis, S. Grossi, R. Biancheri, R. Mazzotti, M. Filocamo
Human Mutation, 2004
Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome
Nathalie Dagoneau, Deborah Scheffer, Céline Huber, Lihadh I. Al-Gazali, Maja Di Rocco, Anne Godard, Jelena Martinovic, Annick Raas-Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean-Luc Taupin, Jean-François Moreau, Andrea Superti-Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Munnich, Laurence Legeai-Mallet, Valérie Cormier-Daire
American Journal of Human Genetics, 2004
Leukoencephalopathy with vanishing white matter: An adult onset case
R. Biancheri, A. Rossi, M. Di Rocco, M. Filocamo, J. C. Pronk, M. S. van der Knaap, P. Tortori-Donati
Neurology, 2003
Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
American Journal of Neuroradiology, 2003
Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency
Italian Journal of Pediatrics, 2003
Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo- skeletal disorder with manifestations of dysautonomia
M. Di Rocco, G. Stella, C. Bruno, L. Doria Lamba, M. Bado, A. Superti‐Furga
American Journal of Medical Genetics, 2003
Concerning "five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol" [3]
American Journal of Medical Genetics, 2003
Testicular sperm extraction in azoospermic men submitted to bilateral orchidopexy
L. Negri
Human Reproduction, 2003
Studies on the pathogenesis of Costello syndrome.
G M S Mancini, O P van Diggelen, W J Kleijer, M Di Rocco, V Farina, M Yuksel-Apak, H Kayserili, D J J Halley
Journal of Medical Genetics, 2003
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, G Pistone, C Spisni, R Ricci, E Zammarchi
Journal of Medical Genetics, 2003
Use of chloral hydrate in a case of pharmacoresistant status epilepticus
Bollettino Lega Italiana Contro L Epilessia, 2002
Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype
F. Forzano, F. Faravelli, A. Loy, M. Di Rocco
American Journal of Medical Genetics, 2002
Prenatal diagnosis in two families with autosomal, p47phox-deficient chronic granulomatous disease due to a novel point mutation in NCF1
Martin de Boer, Vinita Singh, Jan Dekker, Maja Di Rocco, David Goldblatt, Dirk Roos
Prenatal Diagnosis, 2002
Clinics for adults with hereditary metabolic diseases [3]
Maja Di Rocco, Antonella Boncompagni, Ubaldo Caruso
American Journal of Medicine, 2002
Distal aphalangia, an extra metatarsal, short stature and microcephaly: A second case
M. Di Rocco
Clinical Dysmorphology, 2002
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes [4]
Maja Di Rocco, Laura Doria‐Lamba, Ubaldo Caruso
Annals of Neurology, 2001
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D
M. Di Rocco, U. Caruso, H. R. Waterham, P. Picco, A. Loy, R. J. A. Wanders
Journal of Inherited Metabolic Disease, 2001
Malignant migrating partial seizures in infancy
Edvige Veneselli, Maria Viviana Perrone, Maia Di Rocco, Roberto Gaggero, Roberta Biancheri
Epilepsy Research, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Sander M Houten, Janet Koster, Gerrit-Jan Romeijn, Joost Frenkel, Maja Di Rocco, Ubaldo Caruso, Pierre Landrieu, Richard I Kelley, Wietse Kuis, Bwee Tien Poll-The, K Michael Gibson, Ronald JA Wanders, Hans R Waterham
European Journal of Human Genetics, 2001
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome [11]
P PICCO, M GATTORNO, M DI ROCCO, A BUONCOMPAGNI
Annals of the Rheumatic Diseases, 2001
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: A further case and review of main diagnostic findings
F. Faravelli, M. Di Rocco, G. Stella, A. Selicorni, G. Camera
Clinical Dysmorphology, 2001
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation
MC Ferrari, R Parini, MD Di Rocco, G Radetti, P Beck-Peccoz, L Persani
European Journal of Endocrinology, 2001
Hepatitis a vaccine in pediatric patients affected by metabolic liver diseases
Raffaella Giacchino, Anna Timitilli, Emanuela Castellano, Maja Di Rocco, Paolo Fiore, Renato Soncini, Luisa Romanò
Pediatric Infectious Disease Journal, 2001
Erratum: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (European Journal of Human Genetics (2001) vol. 9 (253-259))
SanderM Houten, Janet Koster, Gerrit-Jan Romeijn, Joost Frenkel, Maja Di Rocco, Ubaldo Caruso, Pierre Landrieu, RichardI Kelley, Wietse Kuis, Bwee Tien Poll-The, K Michael Gibson, Ronald JA Wanders, Hans R Waterham
European Journal of Human Genetics, 2001
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations [9]
Elena Rossi, Flavia Piccini, Marcella Zollino, Giovanni Neri, Desirée Caselli, Romano Tenconi, Claudio Castellan, Romeo Carrozzo, Cesare Danesino, Orsetta Zuffardi, Angela Ragusa, Lucia Castiglia, Ornella Galesi, Donatella Greco, Corrado Romano, Mauro Pierluigi, Chiara Perfumo, Maia Di Rocco, Francesca Faravelli, Franca Dagna Bricarelli, MariaClara Bonaglia, MariaFrancesca Bedeschi, Renato Borgatti
Journal of Medical Genetics, 2001
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino, Pierpaolo Mastroiacovo, Tracy J. Wright, Giovanni Sorge, Angelo Selicorni, Romano Tenconi, Alessandro Zappal�, Agatino Battaglia, Maja Di Rocco, Giandomenico Palka, Rosanna Pallotta, Michael R. Altherr, Giovanni Neri
American Journal of Medical Genetics, 2000
Osteopetrorickets: Case report
M. Di Rocco, A. Buoncompagni, A. Loy, A. Dellacqua
European Journal of Pediatrics, 2000
Carbohydrate-deficient glycoprotein syndromes: The Italian experience
M. Di Rocco, R. Barone, A. Adami, A. Burlina, M. Carrozzi, C. Dionisi‐Vici, R. Gatti, P. Iannetti, R. Parini, U. Raucci, M. Roccella, M. Spada, A. Fiumara
Journal of Inherited Metabolic Disease, 2000
β-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement
A. Morrone, T. Bardelli, M.A. Donati, M. Giorgi, M. Di Rocco, R. Gatti, R. Parini, R. Ricci, G. Taddeucci, A. D'Azzo, E. Zammarchi
Human Mutation, 2000
Mannose-binding lectin deficiency and infections in homozygous and heterozygous patients with systemic lupus erythematosus: Comment on the article by Garred et al [1] (multiple letters)
Arnór Vikingsson, Helgi Valdimarsson
Arthritis and Rheumatism, 2000
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency
M Di Rocco, L Doria Lamba, G Minniti, U Caruso, E Naito
European Journal of Paediatric Neurology, 2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Rossella Parini, Miranda Candito, Fumio Endo, Andrea Ballabio, Generoso Andria, Gianfranco Sebastio, Giuseppe Borsani
American Journal of Human Genetics, 2000
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy
C Bruno, M DiRocco, L Doria Lamba, M Bado, C Marino, S Tsujino, S Shanske, G Stella, C Minetti, O.P van Diggelen, S DiMauro
Neuromuscular Disorders, 1999
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
M. Di Rocco, U. Caruso, I. Moroni, S. Lupino, E. Lamantea, A. R. Fantasia, C. Borrone, K. M. Gibson
Journal of Inherited Metabolic Disease, 1999
Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly
E. Veneselli, Roberta Biancheri, Maja Di Rocco, Maria Paola Fondelli, Maria Viviana Perrone, Paolo Tortori Donati
Child S Nervous System, 1999
Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome
Journal of Medical Genetics, 1999
Brother and sister with different vasculitides
M Gattorno, P Picco, S Vignola, M Di Rocco, A Buoncompagni
Lancet, 1999
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia
M. Stroppiano, S. Regis, M. DiRocco, F. Caroli, P. Gandullia, R. Gatti
Journal of Inherited Metabolic Disease, 1999
Erratum: Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs (Journal of Inherited Metabolic Disease (1998) 21, 6 (675-676))
Journal of Inherited Metabolic Disease, 1999
Complex spinal malformation in a 8-month-old girl
Rivista Italiana Di Pediatria, 1998
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs
M. Di Rocco, A. Buoncompagni, P. Picco, S. Vignola, C. Borrone
Journal of Inherited Metabolic Disease, 1998
Craniosynostosis and chromosome 22q11 deletion (multiple letters) [1]
Journal of Medical Genetics, 1998
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II
Regina Hühn, Heike Stoermer, Beate Klingele, Elke Bausch, Alberto Fois, Mariangela Farnetani, Maja Di Rocco, Joelle Boué, Jean M. Kirk, Rosalind Coleman, G. Scherer
Human Genetics, 1998
Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency
Edvige Veneselli, Roberta Biancheri, Maja Dl Rocco, Silvia Tortorelli
European Journal of Paediatric Neurology, 1998
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.
M Di Rocco, A Buocompagni, P Picco, S Vignola, C Borrone, G Gimelli
Journal of Medical Genetics, 1998
Cutaneous leishmaniasis in a 6-month-old girl
M. Di Rocco, S. Vignola, C. Borrone, P. Rampini, C. Occella, C. Gambini
Journal of Pediatrics, 1998
Molecular epidemiology of glycogen storage disease type 1a in italian causistics: Application to non invasive diagnosis and prevention
Rivista Italiana Di Pediatria, 1997
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?
Maja Di Rocco, Paolo Picco, Araxi Arslanian, Gabriella Restagno, Francesco Perfumo, Antonella Buoncompagni, Marco Gattorno, Carla Borrone
American Journal of Medical Genetics, 1997
Case of the month: A child with stiff neck
M. Di Rocco, L. Tasso, M. P. Fondelli, C. Marino, M. Romanengo, R. Giacchino, C. Borrone
European Journal of Pediatrics, 1997
A 6-month-old girl with cardiomyopathy who nearly died
M Di Rocco, C Patrini, A Rimini, G Rindi
Lancet, 1997
Muscle biopsy suggestive of minicore disease in a child with myotonic dystrophy
Rivista Italiana Di Pediatria, 1997
Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: A case report
Marta Romanengo, Paolo Tortori‐Donati, Maja Di Rocco
Clinical Genetics, 1997
X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea [4]
Archives of Disease in Childhood, 1996
Brain edema in diabetic ketoacidemia
Gazzetta Medica Italiana Archivio Per Le Scienze Mediche, 1996
Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families
M. Di Rocco, F. Callea, B. Pollice, M. Faraci, F. Campiani, C. Borrone
European Journal of Pediatrics, 1995
Congenital hypomyelination polyneuropathy: A case report
Rivista Italiana Di Pediatria, 1995
In utero virilization by danazol: Effects on adrenal steroidogenesis
P. Picco, L.R. Garibaldi, M. Di Rocco, E. Podesta, M. Faraci, P. Levratto, M. Gattorno, S. Pang
Adolescent and Pediatric Gynecology, 1995
Interstitial lung disease in lysinuric protein intolerance
Maja Di Rocco
Journal of Pediatrics, 1994
Sjögren-Larsson syndrome: Nuclear magnetic resonance imaging of the brain in a 4-year-old boy
M. Di Rocco, M. Filocamo, P. Tortori‐Donati, E. Veneselli, C. Borrone, W. B. Rizzo
Journal of Inherited Metabolic Disease, 1994
Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods
William B. Rizzo, Debra A. Craft, Todd L. Kelson, Jean‐Paul Bonnefont, Jean‐Marie Saudubray, Joseph D. Schulman, Susan H. Black, Khalil Tabsh, Maja Dirocco, R. J. McKinlay Gardner
Prenatal Diagnosis, 1994
Sponastrime dysplasia: Report on two sibling with mental retardation
G. Camera, A. Camera, M. Di Rocco, R. Gatti
Pediatric Radiology, 1993
Report on a patient with congenital muscular distrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy
Genetic Counseling, 1993
Sinus histocytosis with massive lymphadenopathy (Rosai-Dorfman's disease): Heterogeneity of the clinical picture and positive response to the chemotherapic treatment in a pediatric case
Rivista Italiana Di Pediatria, 1993
Diagnostic difficulties and positive therapeutic response in a patient with sinus histiocytosis with massive lymphadenopathy
P. Picco, A. Buoncompagni, V. Pistoia, M. Di Rocco, A. Giustardi, M. Brisigotti, A. Comelli, A. Iannone, C. Borrone
European Journal of Pediatrics, 1993
Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance
M. DiRocco, G. Garibotto, G. A. Rossi, U. Caruso, A. Taccone, P. Picco, C. Borrone
European Journal of Pediatrics, 1993
On Saraiva and Baraitser and Joubert syndrome: A Review [4]
M. di Rocco
American Journal of Medical Genetics, 1993
The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure
Minerva Pediatrica, 1993
New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers
C. Borrone, M. Di Rocco, F. Crovato, G. Camera, C. Gambini
American Journal of Medical Genetics, 1993
Report on two patients with Costello syndrome and sialuria
Maja Di Rocco, Rosanna Gatti, Paolo Gandullia, Arrigo Barabino, Paolo Picco, Carla Borrone
American Journal of Medical Genetics, 1993
Clinical diversity of Raynaud's phenomenon in childhood: Report of six cases
Antonella Buoncompagni, Raffaele Scribanis, Paolo Picco, Maja Di Ricco, Paolo Gandullia, Lucia Baldi, Vito Pistoia
Lupus, 1993
Distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: Another case [6]
M. Di Rocco, M. I. Erriu, E. Lignana
American Journal of Medical Genetics, 1992
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II
E Natt, K Kida, M Odievre, M Di Rocco, G Scherer
Proceedings of the National Academy of Sciences of the United States of America, 1992
Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy
P. Picco, L. Garibaldi, M. Cotellessa, M. Di Rocco, C. Borrone
European Journal of Pediatrics, 1992
Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers
G.L. Mancardi, M. Di Rocco, A. Schenone, E. Veneselli, M. Doria, M. Abbruzzese, M. Tabaton, C. Borrone
Journal of the Neurological Sciences, 1992
Intracranial calcifications and nephrogenic diabetes insipidius
M. Di Rocco, P. Picco, P. Gandullia, C. Borrone, O. Schofer, R. Beetz, J. Spranger
European Journal of Pediatrics, 1991
Metabolic defect in arthrogryposis multiplex congenita with renal and hepatic abnormalities
M. DiRocco, C. Borrone
Journal of Pediatrics, 1991
Use of computer programs in the education and self-management of patients with insulin-dependent diabetes mellitus
La Pediatria Medica E Chirurgica Medical and Surgical Pediatrics, 1991
Diagnostic and therapeutic approach to hepatic glycogenoses. Report of 36 patients
Rivista Italiana Di Pediatria, 1990
Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: Report of a second family
M. Di Rocco, E. Reboa, A. Barabino, A. Larnaout, M. Canepa, C. Savioli, M. Cremonte, C. Borrone
American Journal of Medical Genetics, 1990
Leigh disease: Value of CT in presymptomatic patients and variability of the lesions with time
Agostino Taccone, Maia Di Rocco, Paola Fondelli, Franco Cottafava
Journal of Computer Assisted Tomography, 1989
Cytochrome c oxidase deficiency in three patients with Leigh's disease
M. Di Rocco, E. Veneselli, M. O. Ciccone, A. Taccone, M. Stroppiano, F. Cottafava
Journal of Inherited Metabolic Disease, 1988
Glycogen storage disease: recommendations for treatment
J. Fernandes, J. V. Leonard, S. W. Moses, M. Odièvre, M. di Rocco, J. Schaub, G. P. A. Smit, K. Ullrich, P. Durand
European Journal of Pediatrics, 1988
Status of the deciduous dentition of 3-7-year old children in Bouches-du-Rhône
Le Chirurgien Dentiste De France, 1987
Cytochrome c oxidase deficiency in leigh syndrome
Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, Maja DiRocco, Darryl C. DeVivo, Stefano DiDonato, Graziella Uziel, Kenneth Berry, George Hoganson, Stanley D. Johnsen, Peter C. Johnson
Annals of Neurology, 1987
Atypical non-ketotic hyperglycinaemia
C. Borrone, C. Bachmann, M. Di Rocco, K. Tada, K. Hayasaka, R. Gatti
Journal of Inherited Metabolic Disease, 1986
Long-term cornstarch therapy in glycogen storage disease types I, Ib and III
R. Gatti, G. Lamedica, M. Di Rocco, D. Massocco, N. Marchese, C. Borrone
Journal of Inherited Metabolic Disease, 1986
Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia
A. Fois, P. Borgogni, M. Cioni, M. Molinelli, R. Frezzotti, A. M. Bardelli, G. Lasorella, L. Barberi, P. Durand, M. Di Rocco, C. Romano, R. Parini, C. Corbetta, M. Giovannini, E. Riva, N. Balato, R. Sartorio, F. Mollica, E. Zammarchi, M. L. Battini
Journal of Inherited Metabolic Disease, 1986
Dystonia and calcification of the basal ganglia: Another case
M. Di Rocco
Neurology, 1986
Long-term cornstarch therapy in glycogen storage disease types I, Ib and III
R. Gatti, G. Lamedica, M. Di Rocco, D. Massocco, N. Marchese, C. Borrone
Journal of Inherited Metabolic Disease, 1986
An abnormal amino acid pattern in adenosine deaminase deficiency
C. Borrone, M. Di Rocco, U. Caruso, S. Reali
Journal of Inherited Metabolic Disease, 1985
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency
M. Di Rocco, A. Superti-Furga, P. Durand, R. Cerone, C. Romano, C. Bachmann, R. Baumgartner
Journal of Inherited Metabolic Disease, 1984
Neutropenia and impaired neutrophil function in glycogenosis type Ib
M. Di Rocco, C. Borrone, F. Dallegri, G. Frumento, F. Patrone
Journal of Inherited Metabolic Disease, 1984
Dietary and pharmacological treatment of two brothers suffering from atypical methylmalonic aciduria
Minerva Pediatrica, 1984
Phenotypic variability in biotinidasedeficiency
Maja Di Rocco, A. Superti-Furga, Daniela Caprino, N. Oddino
Journal of Pediatrics, 1984
Fucosidosis: Review of personal experience
Pediatria Medica E Chirurgica, 1982
Clinical heterogeneity in fructose intolerance
Pediatria Medica E Chirurgica, 1982
Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980)
Pediatria Medica E Chirurgica, 1981
Therapeutic problems of adreno-genital syndrome due to 21-hydroxylase deficiency with loss of salts. Appearance of signs of overdose at the normally used doses
Minerva Pediatrica, 1981

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