Detalhe da pesquisa
1.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Mov Disord
; 39(3): 486-497, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197134
2.
Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact.
Muscle Nerve
; 69(3): 325-333, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158588
3.
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
BMC Neurol
; 24(1): 96, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491364
4.
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
Int J Mol Sci
; 25(9)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732148
5.
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Mov Disord
; 38(2): 313-320, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444905
6.
Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Doc Ophthalmol
; 146(1): 7-16, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399172
7.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
8.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Am J Hum Genet
; 104(3): 466-483, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827497
9.
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Ann Neurol
; 89(2): 212-225, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068037
10.
A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
Muscle Nerve
; 65(2): 193-202, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34787322
11.
Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015.
Muscle Nerve
; 66(2): 193-197, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312090
12.
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 66(1): 50-62, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428982
13.
The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9.
Muscle Nerve
; 63(6): 812-817, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501999
14.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579715
15.
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Muscle Nerve
; 62(5): 626-632, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32914449
16.
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.
Muscle Nerve
; 62(1): 41-45, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329920
17.
Spinal muscular atrophy care in the COVID-19 pandemic era.
Muscle Nerve
; 62(1): 46-49, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329921
18.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Hum Mutat
; 40(7): 962-974, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932294
19.
Use of bone age for evaluating bone density in patients with Duchenne muscular dystrophy: A preliminary report.
Muscle Nerve
; 59(4): 422-425, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30636004
20.
Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data.
Muscle Nerve
; 2018 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365344