Detalhe da pesquisa
1.
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
2.
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.
Eur J Neurol
; : e16383, 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38873957
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.
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Am J Pathol
; 192(8): 1151-1166, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605642
5.
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Ann Neurol
; 92(5): 793-806, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897138
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.
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
8.
Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies.
FASEB J
; 35(9): e21819, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405910
9.
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Muscle Nerve
; 65(5): 568-573, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174518
10.
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
11.
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
12.
Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
Eur J Neurol
; 29(5): 1488-1495, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112761
13.
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.
Eur J Neurol
; 29(3): 843-854, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753219
14.
Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy.
Brain
; 144(4): 1183-1196, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880507
15.
Autoantibody screening in Guillain-Barré syndrome.
J Neuroinflammation
; 18(1): 251, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719386
16.
Prevalence of sarcopenia after remission of hypercortisolism and its impact on HRQoL.
Clin Endocrinol (Oxf)
; 95(5): 735-743, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34323296
17.
Skeletal muscle magnetic resonance imaging in Pompe disease.
Muscle Nerve
; 63(5): 640-650, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33155691
18.
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Eur J Neurol
; 28(4): 1334-1343, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369814
19.
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Eur J Neurol
; 28(9): 3001-3011, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34189813
20.
The increasing role of muscle MRI to monitor changes over time in untreated and treated muscle diseases.
Curr Opin Neurol
; 33(5): 611-620, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32796278