Detalhe da pesquisa
1.
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol
; : e12952, 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124360
2.
Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 65(2): 237-242, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687225
3.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794073
4.
Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases.
Eur Radiol
; 31(6): 4264-4276, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219846
5.
Rimeporide as a ï¬rst- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.
Pharmacol Res
; 159: 104999, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32535224
6.
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Dev Med Child Neurol
; 62(3): 310-314, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799720
7.
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps.
Dev Med Child Neurol
; 61(1): 19-24, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30221755
8.
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing.
Nucleic Acids Res
; 44(22): 10929-10945, 2016 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27507886
9.
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis.
PLoS Genet
; 11(3): e1005092, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25816335
10.
Invited review: Stem cells and muscle diseases: advances in cell therapy strategies.
Neuropathol Appl Neurobiol
; 41(3): 270-87, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25405809
11.
Clinical and genetic features of patients suffering from CMT4J.
J Neurol
; 271(3): 1355-1365, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950760
12.
TWEAK in inclusion-body myositis muscle: possible pathogenic role of a cytokine inhibiting myogenesis.
Am J Pathol
; 180(4): 1603-13, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22314077
13.
A negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis.
J Cachexia Sarcopenia Muscle
; 13(3): 1771-1784, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35319169
14.
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
Ann Clin Transl Neurol
; 8(10): 1938-1950, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453498
15.
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Ann Clin Transl Neurol
; 8(2): 359-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369268
16.
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
Exp Mol Pathol
; 89(2): 158-68, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685272
17.
Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and 31P nuclear magnetic resonance spectroscopy.
Quant Imaging Med Surg
; 10(7): 1450-1464, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676364
18.
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy.
J Neurol
; 267(7): 2022-2028, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32206900
19.
Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy.
J Neurol
; 267(1): 228-238, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616990
20.
Home-Based Monitor for Gait and Activity Analysis.
J Vis Exp
; (150)2019 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31449251