Fernando Freua

RECENT SCHOLAR PUBLICATIONS

Metapneumovirus-associated necrotizing disseminated acute leukoencephalopathy
SC de Souza, A Haydar, JLS Santana, AM De March, GD Silva, F Freua, ...
Arquivos de Neuro-Psiquiatria 84 (4), s00461820527 , 2026
2026
A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood
JC da Costa Urbano, SRP da Silva Júnior, MAA Castro, PR Nóbrega, ...
American Journal of Medical Genetics Part A , 2026
2026
iAXON-Brazil-HSP network: building a trial-ready national cohort for hereditary spastic paraplegias in the Global South
F dos Santos Maciel, FAC de Farias, DMC Arcila, C Silveira, ...
The Lancet Regional Health–Americas 56 , 2026
2026
Giant aneurysm causing parkinsonism and rapid eye movement sleep behavior disorder
ACM Falcone, IV Brum, F Freua, JB Parmera
Arquivos de Neuro-Psiquiatria 83 (11), s00451812299 , 2025
2025
Hematopoietic stem cell transplantation in an international cohort of Colony stimulating Factor‐1 receptor (CSF1R)‐related disorder
HAF Yska, M Golse, S Beerepoot, S Hayer, C Bergner, ARB de Paiva, ...
Movement disorders 40 (9), 1826-1835 , 2025
2025
Citations: 12
PHARC ( Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract ) – A Case Report and Clinical-Focused Literature Review
SR Pereira da Silva Jr, RMG Barbosa, PP Cruz, L da Cruz Caldeira, ...
The Cerebellum 24 (4), 120 , 2025
2025
Isolated Vertical Gaze Palsy due to Unilateral Rostral Midbrain Stroke
JCC Urbano, SC de Souza, CCB Lopes, GD Silva, A Studart-Neto, ...
Journal of Neuro-Ophthalmology 45 (1), 113-114 , 2025
2025
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
L Laugwitz, R Buchert, P Olguín, MA Estiar, M Atanasova, W Marques Jr, ...
The American Journal of Human Genetics 112 (1), 168-180 , 2025
2025
Citations: 6
PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract)-A Case Report and Clinical-Focused Literature Review
SRP SILVA, RMG BARBOSA, PP CRUZ, LC CALDEIRA, DQ OMOTE, ...
SPRINGER , 2025
2025
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
PR Nobrega, ARB Paiva, ADA Junior, PLGSB Lima, KSS Cabral, ...
Genetics in Medicine 27 (1), 101291 , 2025
2025
Citations: 11
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil
H Fussiger, PLGSB Lima, PVS Souza, F Freua, ASE Husny, EKEA Leão, ...
Clinical Genetics 106 (6), 721-732 , 2024
2024
Citations: 10
Intracranial hemorrhage in a patient with Urbach-Wiethe disease
ALCC Hernández, GS de Araújo Torres, TT da Silva, G Tinone, ...
Arquivos de Neuro-psiquiatria 82 (11), 001-002 , 2024
2024
Giant Aneurysm Causing Parkinsonism and REM Sleep Disorder
A Falcone, I Brum, F Freua, E Barbosa, R Cury, J Parmera
MOVEMENT DISORDERS 39, S92-S92 , 2024
2024
" Ears of the lynx" sign in hereditary spastic paraplegias is not always the same!
VHR Marussi, BDRR Assis, F Freua
Arquivos de Neuro-Psiquiatria 82 (07), s00441788266 , 2024
2024
Citations: 1
Young-Onset Alzheimer Dementia Due to a Novel Pathogenic Presenilin 1 Variant Initially Misdiagnosed as Autoimmune Encephalitis
NR Ronchi, MA Castro, AM Coutinho, LT Lucato, GD Silva, SM Brucki, ...
Neurology: Neuroimmunology & Neuroinflammation 11 (5), e200280 , 2024
2024
Citations: 2
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
PL GSB Lima, PR Nobrega, F Freua, P Braga-Neto, ARB Paiva, ...
BMC neurology 24 (1), 169 , 2024
2024
Citations: 4
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
GD Silva, JV Mahler, SRP da Silva Junior, LO Mendonça, ...
BMC neurology 24 (1), 130 , 2024
2024
Citations: 2
Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology
CD Stephen, CM de Gusmao, SR Srinivasan, A Olsen, F Freua, F Kok, ...
Movement Disorders Clinical Practice 11 (4), 411-423 , 2024
2024
Citations: 10
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
TG Guimarães, PR Nóbrega, F Freua, PLG de Sá Barreto, P Braga-Neto, ...
2024
Expanding the phenotypic spectrum of CLCN2 -related leucoencephalopathy and ataxia
PR Nóbrega, A RB de Paiva, KS Souza, JLB de Souza, PL GSB Lima, ...
Brain Communications 6 (1), fcad273 , 2024
2024
Citations: 9

MOST CITED SCHOLAR PUBLICATIONS

Clinical and genetic characterization of leukoencephalopathies in adults
DS Lynch, A Rodrigues Brandão de Paiva, WJ Zhang, E Bugiardini, ...
Brain 140 (5), 1204-1211 , 2017
2017
Citations: 101
A novel complex neurological phenotype due to a homozygous mutation in FDX2
J Gurgel-Giannetti, DS Lynch, ARB Paiva, LT Lucato, G Yamamoto, ...
Brain 141 (8), 2289-2298 , 2018
2018
Citations: 53
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
ARB de Paiva, DS Lynch, US Melo, LT Lucato, F Freua, BDR de Assis, ...
Neurology: Genetics 5 (1), e306 , 2019
2019
Citations: 24
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
GM Giordani, F Diniz, H Fussiger, C Gonzalez-Salazar, KC Donis, F Freua, ...
Scientific Reports 11 (1), 22248 , 2021
2021
Citations: 21
Hematopoietic stem cell transplantation in an international cohort of Colony stimulating Factor‐1 receptor (CSF1R)‐related disorder
HAF Yska, M Golse, S Beerepoot, S Hayer, C Bergner, ARB de Paiva, ...
Movement disorders 40 (9), 1826-1835 , 2025
2025
Citations: 12
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
PR Nobrega, ARB Paiva, ADA Junior, PLGSB Lima, KSS Cabral, ...
Genetics in Medicine 27 (1), 101291 , 2025
2025
Citations: 11
Supratentorial lymphocytic inflammation with parenchymal perivascular enhancement responsive to steroids (SLIPPERS)—Does it really exist?
F Freua, JV Mahler, PLGSB Lima, IS Neville, LB Portella, VHR Marussi, ...
Brain Sciences 13 (8), 1191 , 2023
2023
Citations: 11
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.
US Melo, F Freua, DS Lynch, BD Ripa, RB Tenorio, JAM Saute, ...
Clinical Genetics 94 (5) , 2018
2018
Citations: 11
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil
H Fussiger, PLGSB Lima, PVS Souza, F Freua, ASE Husny, EKEA Leão, ...
Clinical Genetics 106 (6), 721-732 , 2024
2024
Citations: 10
Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology
CD Stephen, CM de Gusmao, SR Srinivasan, A Olsen, F Freua, F Kok, ...
Movement Disorders Clinical Practice 11 (4), 411-423 , 2024
2024
Citations: 10
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia
F Freua, MEC Almeida, PR Nóbrega, ARB de Paiva, B Della-Ripa, ...
Molecular Case Studies 8 (6), a006232 , 2022
2022
Citations: 10
Expanding the phenotypic spectrum of CLCN2 -related leucoencephalopathy and ataxia
PR Nóbrega, A RB de Paiva, KS Souza, JLB de Souza, PL GSB Lima, ...
Brain Communications 6 (1), fcad273 , 2024
2024
Citations: 9
Chronic stage of Marchiafava-Bignami disease
LT Lucato, F Freua, F Kok
Arquivos de Neuro-Psiquiatria 73 (10), 890-890 , 2015
2015
Citations: 7
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
L Laugwitz, R Buchert, P Olguín, MA Estiar, M Atanasova, W Marques Jr, ...
The American Journal of Human Genetics 112 (1), 168-180 , 2025
2025
Citations: 6
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease
ARB Paiva, RE Fonseca Neto, CL Afonso, F Freua, PR Nóbrega, F Kok
European journal of neurology 29 (6), 1859-1862 , 2022
2022
Citations: 5
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
PL GSB Lima, PR Nobrega, F Freua, P Braga-Neto, ARB Paiva, ...
BMC neurology 24 (1), 169 , 2024
2024
Citations: 4
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
I Peixoto de Barcelos, C Bueno, LF S. Godoy, A Pessoa, L A. Costa, ...
Brain Sciences 13 (8), 1169 , 2023
2023
Citations: 4
Case report: Rapid desensitization to ocrelizumab for multiple sclerosis is effective and safe
MV Aun, F Freua, VHR Marussi, P Giavina-Bianchi
Frontiers in Immunology 13, 840238 , 2022
2022
Citations: 4
Malignant cerebral venous thrombosis in a transgender patient: intraoperative aspect of vein of Trolard thrombosis
CCB Lopes, VTG da SILVA, JEDC Lucio, RHG Yamashita, LR Comerlatti, ...
Arquivos de Neuro-Psiquiatria 79 (10), 938-939 , 2021
2021
Citations: 4
Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD)
F Freua, JB Parmera, DO Doria, ARB Paiva, LI Macedo-Souza, F Kok
Arquivos de Neuro-Psiquiatria 73 (1), 65-65 , 2015
2015
Citations: 4