Detalhe da pesquisa
1.
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
2.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
3.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
4.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci
; 23(15)2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955641
5.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation
; 140(4): 293-302, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155932
6.
Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 52(5): 780-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678042
7.
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
J Neurol Neurosurg Psychiatry
; 87(3): 340-2, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25783436
8.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749658
9.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Eur J Hum Genet
; 27(3): 349-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552423
10.
[Muscular disorders: unusual or focal presentations]. / Maladies musculaires a expression clinique focale ou atypique.
Rev Prat
; 58(20): 2245-52, 2008 Dec 31.
Artigo
em Francês
| MEDLINE | ID: mdl-19209655
11.
Considering the level of myositis-specific autoantibodies could improve the precision of multiplex assay : lesson from patients with multiple positive results.
Semin Arthritis Rheum
; 52: 151871, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404513
12.
Evidence of cognitive compensation associated with educational level in early relapsing-remitting multiple sclerosis.
J Neurol Sci
; 251(1-2): 23-8, 2006 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-17097108
13.
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
PLoS One
; 11(2): e0148264, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849574
14.
[2020: A year in parentheses]. / 2020, une année entre parenthèses.
Med Sci (Paris)
; 36 Hors série n° 2: 5, 2020 12.
Artigo
em Francês
| MEDLINE | ID: mdl-33427627
15.
[Which follow-up for innovative treatments?] / Quel suivi pour les traitements innovants ?
Med Sci (Paris)
; 35 Hors série n° 1: 54-56, 2019 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-30943166
16.
Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies.
Arthritis Res Ther
; 16(1): R39, 2014 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24484965
17.
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.
Medicine (Baltimore)
; 93(3): 150-157, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24797170
18.
[Towards a national standardisation of NGS studies in the diagnosis of myopathies]. / Vers une homogénéisation nationale des analyses par NGS dans la démarche diagnostique pour les myopathies.
Med Sci (Paris)
; 33 Hors série n°1: 30-33, 2017 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-29139383
19.
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.
Eur J Paediatr Neurol
; 16(2): 149-60, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920787
20.
Pain and quality of life in the early stages after multiple sclerosis diagnosis: a 2-year longitudinal study.
Clin J Pain
; 25(3): 211-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19333171