Detalhe da pesquisa
1.
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.
Am J Med Genet A
; 188(9): 2790-2795, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698866
2.
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
3.
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Clin Genet
; 97(6): 908-914, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32092148
4.
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
5.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 57(3): 380-387, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053898
6.
Myotonic dystrophy type 1: palliative care guidelines.
BMJ Support Palliat Care
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253488
7.
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
8.
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Lancet Reg Health Eur
; 37: 100817, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169987
9.
Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies.
Pediatr Neurol
; 145: 102-111, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37315339
10.
Pancreatitis in RYR1-related disorders.
Neuromuscul Disord
; 33(10): 769-775, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37783627
11.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196629
12.
Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy.
Children (Basel)
; 9(5)2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626905
13.
A pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD).
PLoS One
; 17(6): e0268990, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35749388
14.
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
J Med Econ
; 25(1): 808-816, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642753
15.
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Arch Dis Child
; 107(2): 160-165, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244165
16.
Upper Limb Rehabilitation in Facioscapulohumeral Muscular Dystrophy: A Patients' Perspective.
Arch Rehabil Res Clin Transl
; 3(4): 100157, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34977539
17.
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.
Neurology
; 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857536
18.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
J Neuropathol Exp Neurol
; 80(10): 955-965, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498054
19.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Neurology
; 96(4): e587-e599, 2021 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33067401
20.
Response to: the adult multidisciplinary respiratory neuromuscular clinic.
Breathe (Sheff)
; 16(4): 200277, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33664841