Detalhe da pesquisa
1.
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
2.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
; : e16309, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38656662
3.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
4.
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Brain
; 145(6): 2108-2120, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34919635
5.
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
6.
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.
Rheumatology (Oxford)
; 61(4): 1645-1650, 2022 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264321
7.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
8.
Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation.
Muscle Nerve
; 64(5): 545-551, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34432301
9.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
10.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 90(5): 576-585, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530568
11.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
12.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437916
13.
Benign and malignant tumors in the UK myotonic dystrophy patient registry.
Muscle Nerve
; 57(2): 316-320, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662292
14.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816943
15.
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.
Neuromuscul Disord
; 35: 42-52, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38061948
16.
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
J Neuromuscul Dis
; 11(2): 361-368, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189761
17.
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
medRxiv
; 2024 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370827
18.
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Neurol Clin Pract
; 14(1): e200224, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38107546
19.
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.
Sci Rep
; 14(1): 3365, 2024 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336890
20.
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
J Neuromuscul Dis
; 11(3): 665-677, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427497