Detalhe da pesquisa
1.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain
; 146(10): 4233-4246, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186601
2.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
3.
Seeking normality: Parents' experiences of childhood stroke.
Child Care Health Dev
; 45(1): 89-95, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255632
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.
Gene therapy for spinal muscular atrophy.
Arch Dis Child Educ Pract Ed
; 108(5): 347-350, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37423714
6.
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.
J Biol Chem
; 291(29): 14939-53, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226619
7.
Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohort.
Ann Neurol
; 79(5): 784-793, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928665
8.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
9.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Am J Hum Genet
; 90(1): 25-39, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209248
10.
Diagnostic delays in paediatric stroke.
J Neurol Neurosurg Psychiatry
; 86(8): 917-21, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25342203
11.
Surgery for scoliosis in Duchenne muscular dystrophy.
Cochrane Database Syst Rev
; (10): CD005375, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26423318
12.
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.
Hum Mutat
; 35(7): 868-79, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664454
13.
Guillain-Barré syndrome associated with CASPR2 antibodies: two paediatric cases.
J Peripher Nerv Syst
; 19(3): 246-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25413786
14.
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
15.
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
16.
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
Dev Med Child Neurol
; 55(10): 959-62, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23909822
17.
Surgery for scoliosis in Duchenne muscular dystrophy.
Cochrane Database Syst Rev
; (2): CD005375, 2013 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23450561
18.
New treatments in spinal muscular atrophy.
Arch Dis Child
; 108(7): 511-517, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36316089
19.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Neurology
; 101(15): e1495-e1508, 2023 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643885
20.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Hum Mutat
; 33(6): 981-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473935