Detalhe da pesquisa
1.
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
Genome Res
; 33(9): 1439-1454, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798116
2.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703328
3.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
4.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
5.
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
6.
Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet.
Muscle Nerve
; 66(1): 15-23, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994466
7.
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
8.
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
9.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
10.
Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Muscle Nerve
; 63(2): 181-191, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150975
11.
Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy.
J Pediatr
; 227: 274-280.e2, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32659229
12.
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
13.
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
14.
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
BMC Neurol
; 19(1): 224, 2019 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506080
15.
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.
Muscle Nerve
; 58(3): 413-417, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29901230
16.
Modified dynamic gait index and limits of stability in myotonic dystrophy type 1.
Muscle Nerve
; 58(5): 694-699, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160307
17.
DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.
Cardiol Young
; 28(7): 910-915, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29766838
18.
Physical function and mobility in children with congenital myotonic dystrophy.
Muscle Nerve
; 56(2): 224-229, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859360
19.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat
; 36(1): 48-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204870
20.
Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.
Neurology
; 102(5): e208115, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359368