Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Hum Mutat
; 43(12): 1898-1908, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904125
5.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
6.
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.
J Inherit Metab Dis
; 45(3): 517-528, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066899
7.
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.
Eur J Neurol
; 29(4): 1181-1186, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927321
8.
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
9.
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
J Inherit Metab Dis
; 43(6): 1219-1231, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515844
10.
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.
Mol Genet Metab
; 122(3): 108-116, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888851
11.
Bilateral gastrocnemius myositis: an extra-intestinal manifestation of Crohn's disease.
Rheumatology (Oxford)
; 61(2): e35-e37, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534274
12.
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
J Neurol Neurosurg Psychiatry
; 91(8): 898-900, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32487525
13.
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
J Inherit Metab Dis
; 38(3): 573-80, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388549
14.
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
J Med Genet
; 51(12): 824-33, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326555
15.
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Biomedicines
; 12(2)2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397924
16.
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
17.
Muscle pathology in 31 patients with calpain 3 gene mutations..
Neurol Neurochir Pol
; 47(3): 214-22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23821418
18.
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study.
J Neurol
; 270(12): 5819-5826, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592137
19.
Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple-Source Capture-Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria.
Arthritis Rheumatol
; 75(10): 1850-1855, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37192377
20.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Neurol Genet
; 9(4): e200087, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470033