Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Neurogenetics
; 22(1): 33-41, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405017
3.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234304
4.
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Brain
; 139(Pt 5): 1378-93, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27086870
5.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Brain
; 137(Pt 2): 411-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24369382
6.
Trigeminal Nerve Involvement in Bulbar-Onset Anti-IgLON5 Disease.
Neurol Neuroimmunol Neuroinflamm
; 10(6)2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607754
7.
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study.
J Neurol
; 270(12): 5819-5826, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592137
8.
Novel dominant distal titinopathy phenotype associated with copy number variation.
Ann Clin Transl Neurol
; 8(9): 1906-1912, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312993
9.
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Orphanet J Rare Dis
; 16(1): 450, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702344
10.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
Eur J Hum Genet
; 27(9): 1406-1418, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30996334
11.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
JAMA Neurol
; 75(4): 495-502, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356829
12.
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
J Neurol
; 263(8): 1552-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27230853
13.
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
J Neurol
; 263(7): 1314-22, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142713
14.
Guillain-Barré syndrome related to SARS-CoV-2 infection.
Neurol Neuroimmunol Neuroinflamm
; 7(5)2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461235
15.
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.
Mov Disord Clin Pract
; 2(1): 56-60, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30713878
16.
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
JAMA Neurol
; 71(10): 1305-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25089919
17.
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
J Neurol
; 261(2): 435-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24366652
18.
A case of acute psychosis after buprenorphine withdrawal: abrupt versus progressive discontinuation could make a difference.
J Clin Psychiatry
; 73(6): e756, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22795215