Detalhe da pesquisa
1.
A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).
Muscle Nerve
; 69(3): 362-367, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189531
2.
Remote assessment of myotonic dystrophy type 1: A feasibility study.
Muscle Nerve
; 66(3): 336-339, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426155
3.
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
Hum Mol Genet
; 28(8): 1312-1321, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561649
4.
A patient-focused survey to assess the effects of the COVID-19 pandemic and social guidelines on people with muscular dystrophy.
Muscle Nerve
; 64(3): 321-327, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34105174
5.
Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.
BMC Musculoskelet Disord
; 22(1): 262, 2021 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33691664
6.
Nusinersen for older patients with spinal muscular atrophy: A real-world clinical setting experience.
Muscle Nerve
; 61(2): 222-226, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31773738
7.
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
8.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
J Peripher Nerv Syst
; 25(3): 288-291, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32844461
9.
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
10.
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.
PLoS Genet
; 12(9): e1006316, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681373
11.
Facioscapulohumeral muscular dystrophy functional composite outcome measure.
Muscle Nerve
; 2018 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29381807
12.
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
Muscle Nerve
; 58(2): 213-218, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543984
13.
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions.
J Peripher Nerv Syst
; 28(3): 528-529, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271500
14.
Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 55(3): 333-337, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27421252
15.
Electrical impedance myography in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 54(4): 696-701, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26840230
16.
Myotonic dystrophy health index: Correlations with clinical tests and patient function.
Muscle Nerve
; 53(2): 183-90, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26044513
17.
Prospective study of muscle cramps in Charcot-Marie-tooth disease.
Muscle Nerve
; 51(4): 485-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25042364
18.
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.
Hum Mol Genet
; 21(6): 1312-24, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140091
19.
Splicing biomarkers of disease severity in myotonic dystrophy.
Ann Neurol
; 74(6): 862-72, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929620
20.
Restrictive lung involvement in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 50(5): 739-43, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24639337