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.
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Brain
; 138(Pt 2): 276-83, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25497598
3.
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6.
Mov Disord
; 29(2): 252-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24301795
4.
Myotonic dystrophy type 1: palliative care guidelines.
BMJ Support Palliat Care
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253488
5.
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy.
Neuromuscul Disord
; 41: 8-19, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38865917
6.
Charcot-Marie-Tooth disease in Northern England.
J Neurol Neurosurg Psychiatry
; 83(5): 572-3, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984771
7.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.
J Neurol
; 264(6): 1271-1280, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550484
8.
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.
J Neurol
; 262(7): 1673-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25957632
9.
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
J Neuromuscul Dis
; 1(1): 55-63, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26380172
10.
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
Arch Neurol
; 69(10): 1351-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22751902
11.
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.
Neurology
; 84(17): 1818-20, 2015 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25832657
12.
SPG7 mutations are a common cause of undiagnosed ataxia.
Neurology
; 84(11): 1174-6, 2015 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25681447