Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38696726
2.
Different Genetic Signatures of Small-Cell Lung Cancer Characterize Anti-GABAB R and Anti-Hu Paraneoplastic Neurological Syndromes.
Ann Neurol
; 94(6): 1102-1115, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37638563
3.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Brain
; 146(8): 3470-3483, 2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36454683
4.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36943151
5.
Autoimmune neuromyotonia.
Curr Opin Neurol
; 35(5): 597-603, 2022 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35989569
6.
Motor chronic inflammatory demyelinating polyneuropathy (CIDP) in 17 patients: Clinical characteristics, electrophysiological study, and response to treatment.
J Peripher Nerv Syst
; 25(2): 162-170, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32364302
7.
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Int J Mol Sci
; 21(18)2020 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-32948071
8.
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Brain
; 146(5): e31-e32, 2023 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36759155
9.
Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.
Eur Neurol
; 82(4-6): 106-112, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-32018264
10.
Adenovirus COVID-19 Vaccines and Guillain-Barré Syndrome with Facial Paralysis.
Ann Neurol
; 91(1): 162-163, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34699065
11.
Electrophysiological abnormalities of the neuromuscular transmission in two patients with botulism-like syndrome following Botulinum-A muscle injections.
Neurophysiol Clin
; 54(4): 102984, 2024 May 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38759365
12.
Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy.
J Neuroimmunol
; 392: 578381, 2024 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38823119
13.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Eur J Hum Genet
; 32(1): 37-43, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37337091
14.
Neurological autoimmunity in melanoma patients: a comparison between those exposed and non-exposed to immune checkpoint inhibitors.
J Neurol
; 271(6): 3279-3290, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38467790
15.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
J Neurol
; 2024 Mar 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38517523
16.
Mononeuritis multiplex following immune checkpoint inhibitors in malignant pleural mesothelioma.
Front Neurol
; 15: 1338899, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38333608
17.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet J Rare Dis
; 19(1): 24, 2024 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38268028
18.
Trigeminal Nerve Involvement in Bulbar-Onset Anti-IgLON5 Disease.
Neurol Neuroimmunol Neuroinflamm
; 10(6)2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37607754
19.
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
EMBO Mol Med
; 15(8): e16090, 2023 08 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37431816
20.
Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease.
J Neurol
; 270(11): 5545-5560, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37540278