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.
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Eur J Neurol
; 31(7): e16292, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587143
3.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974137
4.
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Eur J Neurol
; 28(9): 2913-2921, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060176
5.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
6.
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Muscle Nerve
; 61(4): 491-495, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944327
7.
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
8.
Skeletal Muscle Regenerative Potential of Human MuStem Cells following Transplantation into Injured Mice Muscle.
Mol Ther
; 26(2): 618-633, 2018 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29221805
9.
Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features.
J Neurol Neurosurg Psychiatry
; 89(5): 499-505, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29070644
10.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322
11.
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Am J Hum Genet
; 93(6): 1100-7, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268661
12.
Non-invasive assessment of muscle stiffness in patients with Duchenne muscular dystrophy.
Muscle Nerve
; 51(2): 284-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25187068
13.
Vincristine-induced neuropathy: Atypical electrophysiological patterns in children.
Muscle Nerve
; 52(6): 981-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758843
14.
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
Muscle Nerve
; 52(4): 673-80, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809233
15.
Human MuStem cells are competent to fuse with nonhuman primate myofibers in a clinically relevant transplantation context: A proof-of-concept study.
J Neuropathol Exp Neurol
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752570
16.
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.
Neurol Clin Pract
; 14(3): e200228, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690148
17.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
J Neurol
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517523
18.
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
19.
Guillain-Barré syndrome during childhood: particular clinical and electrophysiological features.
Muscle Nerve
; 48(2): 247-51, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813561
20.
Maculopathy and spinocerebellar ataxia type 1: a new association?
J Neuroophthalmol
; 33(3): 225-31, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23584155