Detalhe da pesquisa
1.
Strategy for genetic analysis in hereditary neuropathy.
Rev Neurol (Paris)
; 179(1-2): 10-29, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36566124
2.
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
Eur J Neurol
; 28(2): 660-669, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051934
3.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Neuropathol Appl Neurobiol
; 46(6): 564-578, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342993
4.
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Eur J Neurol
; 27(12): 2568-2574, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32757322
5.
Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
Rev Neurol (Paris)
; 176(6): 507-515, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32354651
6.
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Eur J Neurol
; 25(5): 790-794, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437287
7.
Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability.
Acta Oncol
; 57(3): 403-411, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243538
8.
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Eur J Neurol
; 24(2): 255-261, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27869334
9.
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Eur J Neurol
; 24(3): 530-538, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211240
10.
Hereditary neuropathies: An update.
Rev Neurol (Paris)
; 172(12): 775-778, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866730
11.
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
J Neurol Neurosurg Psychiatry
; 86(12): 1337-46, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25535305
12.
Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.
Eur J Neurol
; 22(6): 933-40, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740218
13.
Myofibrillar myopathies: State of the art, present and future challenges.
Rev Neurol (Paris)
; 171(10): 715-29, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26342832
14.
A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis.
J Autoimmun
; 52: 139-45, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373505
15.
Antibodies to clustered acetylcholine receptor: expanding the phenotype.
Eur J Neurol
; 21(1): 130-4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24112557
16.
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.
Rev Neurol (Paris)
; 169(8-9): 546-63, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24021317
17.
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]. / Syndromes myasthéniques congénitaux: difficultés diagnostiques, évolution et pronostic, thérapeutique--l'expérience du réseau national "Syndromes Myasthéniques Congénitaux".
Rev Neurol (Paris)
; 169 Suppl 1: S45-55, 2013 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-23452772
18.
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. / Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients.
Rev Neurol (Paris)
; 169(8-9): 603-12, 2013.
Artigo
em Francês
| MEDLINE | ID: mdl-24011642
19.
8-Iso-prostaglandin F2α as a potential biomarker in patients with unipolar and bipolar depression.
Eur Rev Med Pharmacol Sci
; 27(23): 11496-11507, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38095397
20.
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant.
Rev Neurol (Paris)
; 173(10): 671-673, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28579206