Detalhe da pesquisa
1.
MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy.
Ann Neurol
; 88(4): 669-681, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32495452
2.
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
Hum Mutat
; 41(9): 1507-1513, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557990
3.
Disease progression and outcome measures in spinobulbar muscular atrophy.
Ann Neurol
; 84(5): 754-765, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255951
4.
A pilot study of muscle plasma protein changes after exercise.
Muscle Nerve
; 49(2): 261-6, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716353
5.
A quantitative method to assess muscle edema using short TI inversion recovery MRI.
Sci Rep
; 10(1): 7246, 2020 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350361
6.
Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy.
Neurology
; 95(9): e1211-e1221, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32611642
7.
Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy.
J Neurol
; 266(5): 1127-1135, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778707
8.
Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments.
Neurology
; 92(6): e548-e559, 2019 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610091
9.
Muscle contractility in spinobulbar muscular atrophy.
Sci Rep
; 9(1): 4680, 2019 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30886222
10.
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.
Ann Clin Transl Neurol
; 6(6): 1033-1045, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211167
11.
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA.
Neuromuscul Disord
; 28(5): 408-413, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567350
12.
Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA.
Mitochondrion
; 32: 27-30, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27856367
13.
Fat Replacement of Paraspinal Muscles with Aging in Healthy Adults.
Med Sci Sports Exerc
; 49(3): 595-601, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27741218
14.
MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients.
J Neurol
; 264(3): 438-447, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28000006
15.
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Neurol Genet
; 3(6): e208, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264399
16.
Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study.
Neurology
; 85(5): 396-403, 2015 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26156512
17.
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Neurology
; 84(17): 1772-81, 2015 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25862795
18.
Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy.
Neurology
; 83(13): 1178-83, 2014 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25142899
19.
Muscle biopsies off-set normal cellular signaling in surrounding musculature.
Neuromuscul Disord
; 23(12): 981-5, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24148530