Detalhe da pesquisa
1.
Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.
Muscle Nerve
; 67(2): 157-161, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36382958
2.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33449170
3.
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Cerebellum
; 19(1): 161-163, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31721007
4.
How to use: creatine kinase.
Arch Dis Child Educ Pract Ed
; 105(3): 157-163, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31296557
5.
Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy.
Cochrane Database Syst Rev
; 1: CD010899, 2017 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-28117876
6.
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
Inglês
| MEDLINE | ID: mdl-38169987
7.
Adherence to antiepileptic medicines in children: a multiple-methods assessment involving dried blood spot sampling.
Epilepsia
; 54(6): 1020-7, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23448146
8.
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Arch Dis Child
; 107(2): 160-165, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34244165
9.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab
; 106(2): e660-e674, 2021 01 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33005949
10.
Central hypoventilation syndrome after Haemophilus influenzae type b meningitis and herpes infection.
Pediatr Neurol
; 39(5): 358-60, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18940561
11.
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
Ulster Med J
; 86(3): 185-188, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29581631
12.
Sydenham's chorea: not gone but perhaps forgotten.
Arch Dis Child
; 100(12): 1160-2, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26374756
13.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Neurology
; 83(21): 1898-905, 2014 Nov 18.
Artigo
Inglês
| MEDLINE | ID: mdl-25339210
14.
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
Neuromuscul Disord
; 23(11): 883-91, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23831158
15.
Analysis of factors influencing admission to intensive care following convulsive status epilepticus in children.
Seizure
; 18(9): 630-3, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19699662