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.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
3.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(10): 3265-3276, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335503
4.
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv).
BMC Pediatr
; 23(1): 563, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968589
5.
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
Eur J Neurol
; 29(12): 3547-3555, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35969369
6.
Electrodiagnostic subtyping in Guillain-Barré syndrome: Use of criteria in practice based on a survey study in IGOS.
J Peripher Nerv Syst
; 27(3): 197-205, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35700346
7.
Albert Pitres: Charcot's Brilliant Student.
Eur Neurol
; 85(3): 245-252, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35313319
8.
[Small fiber neuropathy diagnosis]. / Diagnostiquer une neuropathie des petites fibres.
Rev Med Suisse
; 18(779): 803-807, 2022 Apr 27.
Artigo
em Francês
| MEDLINE | ID: mdl-35481505
9.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
10.
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Mov Disord
; 36(3): 771-774, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33165979
11.
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Eur J Neurol
; 28(9): 2913-2921, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060176
12.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
13.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
14.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
15.
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Andrologia
; 53(1): e13865, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108824
16.
Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study.
J Neurol Neurosurg Psychiatry
; 91(2): 113-121, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586949
17.
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Muscle Nerve
; 61(4): 491-495, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944327
18.
Hysteria or epilepsy?
Epilepsy Behav
; 111: 107178, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32585599
19.
Regional variation of Guillain-Barré syndrome.
Brain
; 141(10): 2866-2877, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247567
20.
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Mol Ther
; 26(1): 256-268, 2018 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29033008