Detalhe da pesquisa
1.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Am J Hum Genet
; 107(4): 763-777, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937143
2.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain
; 145(5): 1684-1697, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788397
3.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
4.
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Eur J Neurol
; 29(7): 2156-2161, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253317
5.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
6.
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.
Neurobiol Dis
; 156: 105421, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34118419
7.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Am J Hum Genet
; 103(6): 1022-1029, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526861
8.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337771
9.
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Brain
; 142(9): 2605-2616, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332438
10.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
11.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
; 60(4): 689-706, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866059
12.
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Brain
; 141(9): 2592-2604, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084953
13.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Hum Mutat
; 39(3): 415-432, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29235198
14.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 89(8): 870-878, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449460
15.
Limb girdle muscular dystrophy due to mutations in POMT2.
J Neurol Neurosurg Psychiatry
; 89(5): 506-512, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175898
16.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain
; 140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126212
17.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain
; 140(5): 1252-1266, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369220
18.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
19.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
PLoS Genet
; 11(5): e1005226, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25950944
20.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Hum Mutat
; 38(3): 297-309, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008748