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.
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Eur J Neurol;
31(2): e16138, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38015438
3.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Mov Disord;
38(10): 1950-1956, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37470282
4.
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
5.
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
em Inglês
| MEDLINE
| ID: mdl-36943151
6.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst;
28(3): 359-367, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37306961
7.
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
8.
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
9.
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Eur J Neurol;
28(9): 2846-2854, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34060689
10.
Electromyography and muscle biopsy in chronic isolated Myalgia: A prospective study.
Muscle Nerve;
54(2): 321-4, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27104891
11.
A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.
BMC Neurol;
16(1): 238, 2016 Nov 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27881096
12.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Brain;
138(Pt 2): 284-92, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25527826
13.
Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype.
J Neuroinflammation;
12: 46, 2015 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25889963
14.
Chronic Bickerstaff's encephalitis with cognitive impairment, a reality?
BMC Neurol;
14: 99, 2014 May 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24885623
15.
Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy.
J Neuroimmunol;
392: 578381, 2024 May 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38823119
16.
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
em Inglês
| MEDLINE
| ID: mdl-37337091
17.
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
J Neurol;
271(4): 2078-2085, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38263489
18.
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
Amyloid;
31(1): 62-69, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37855400
19.
Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.
J Neurol;
2024 May 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38767661
20.
Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.
J Neurol Neurosurg Psychiatry;
84(4): 392-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23243264