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.
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
3.
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
4.
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
em Inglês
| MEDLINE
| ID: mdl-38268028
5.
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
6.
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Neurology;
101(9): e966-e977, 2023 08 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37419682
7.
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
J Neurol Sci;
424: 117391, 2021 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33799212
8.
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Neuromuscul Disord;
30(3): 207-212, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32008911
9.
Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy.
J Clin Neuromuscul Dis;
18(4): 199-206, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28538250
10.
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.
Neuromuscul Disord;
27(1): 78-82, 2017 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27876257
11.
Anti-MuSK myasthenia gravis with prolonged remission.
Neuromuscul Disord;
26(7): 453-4, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27161384
12.
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
13.
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Neurology;
81(21): 1810-8, 2013 Nov 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24153443
14.
Recurrent diplopia over a 30-year period: natural history of a Lewis and Sumner syndrome.
Acta Neurol Belg;
112(2): 199-201, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22426656
15.
An Autopsy Case of Amyotrophic Lateral Sclerosis with Waldenström Macroglobulinemia and Anti-MAG Gammopathy.
Case Rep Neurol;
3(3): 294-300, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22220157
16.
Clinical images: Focal myositis demonstrated on positron emission tomography.
Arthritis Rheumatol;
66(7): 1871, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24974825
17.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Neuromuscul Disord;
19(5): 324-9, 2009 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19327992