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.
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.
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
5.
Therapeutic Patient Education in Cancer Pain Management: from Practice to Research: Proposals and Strategy of the French EFFADOL Program.
J Cancer Educ
; 33(6): 1355-1361, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28804809
6.
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
7.
Evaluation of syndromic algorithms for detecting patients with potentially transmissible infectious diseases based on computerised emergency-department data.
BMC Med Inform Decis Mak
; 13: 101, 2013 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24004720
8.
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
9.
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
10.
Evaluation of natural language processing from emergency department computerized medical records for intra-hospital syndromic surveillance.
BMC Med Inform Decis Mak
; 11: 50, 2011 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21798029
11.
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
12.
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
13.
[Elaboration and evaluation of a therapeutic education program in cancer pain management]. / Construction et évaluation d'un programme d'éducation thérapeutique du patient dans le domaine de la douleur liée au cancer.
Bull Cancer
; 105(11): 1074-1083, 2018 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-30327192
14.
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
15.
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
16.
Anti-MuSK myasthenia gravis with prolonged remission.
Neuromuscul Disord
; 26(7): 453-4, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161384
17.
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
18.
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
19.
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
20.
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