Detalhe da pesquisa
1.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain;
2024 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38366623
2.
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.
Eur J Neurol;
31(6): e16267, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38556893
3.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet;
107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33217308
4.
An update on Becker muscular dystrophy.
Curr Opin Neurol;
36(5): 450-454, 2023 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37591308
5.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta Neuropathol;
145(1): 127-143, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36264506
6.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain;
145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34515763
7.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet;
59(11): 1069-1074, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35393337
8.
Understanding paediatric data standards challenges through academia-industry partnerships: A conect4children (c4c) qualitative study.
Int J Health Plann Manage;
38(2): 416-429, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36335084
9.
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Hum Mutat;
43(9): 1234-1238, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35607917
10.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Neuropathol Appl Neurobiol;
48(7): e12846, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35962550
11.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol;
89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33576057
12.
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Muscle Nerve;
65(1): 67-74, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34606104
13.
Comparison of strength testing modalities in dysferlinopathy.
Muscle Nerve;
66(2): 159-166, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35506767
14.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve;
65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35179231
15.
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Eur J Neurol;
29(6): 1815-1824, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35239206
16.
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
17.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol;
88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32403198
18.
Skeletal muscle magnetic resonance imaging in Pompe disease.
Muscle Nerve;
63(5): 640-650, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33155691
19.
Effects of cardiac medications on ventricular function in patients with Duchenne muscular dystrophy-related cardiomyopathy.
Muscle Nerve;
64(2): 163-171, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34050938
20.
Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.
Muscle Nerve;
64(1): 43-49, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33683712