Detalhe da pesquisa
1.
Leigh syndrome: an adult presentation of a paediatric disease.
Pract Neurol
; 24(1): 45-50, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567761
2.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
3.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393337
4.
Immune-Mediated Neuropathies: Pathophysiology and Management.
Int J Mol Sci
; 24(8)2023 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108447
5.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
6.
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
7.
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
8.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
J Neurol Neurosurg Psychiatry
; 87(8): 802-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27147698
9.
International clinimetric evaluation of the MG-QOL15, resulting in slight revision and subsequent validation of the MG-QOL15r.
Muscle Nerve
; 54(6): 1015-1022, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27220659
10.
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
J Neuromuscul Dis
; 11(1): 179-189, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38108361
11.
A randomized, double-blind, placebo-controlled phase II study of eculizumab in patients with refractory generalized myasthenia gravis.
Muscle Nerve
; 48(1): 76-84, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23512355
12.
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Neuromuscul Disord
; 33(9): 98-105, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598009
13.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
J Neurol
; 270(12): 5849-5865, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603075
14.
Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series.
Neuromuscul Disord
; 32(7): 578-581, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613949
15.
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
Neuromuscul Disord
; 32(11-12): 893-902, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207221
16.
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Neuromuscul Disord
; 32(5): 377-389, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361525
17.
The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome.
J Neurol Neurosurg Psychiatry
; 82(6): 671-3, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20392977
18.
A DM1 patient with CCG variant repeats: Reaching the diagnosis.
Neuromuscul Disord
; 31(3): 232-238, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33546847
19.
The phenotypic and genotypic features of a Scottish cohort with McArdle disease.
Neuromuscul Disord
; 31(8): 695-700, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215481
20.
Autoimmune mediated neuromuscular junction defects.
Curr Opin Neurol
; 23(5): 489-95, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20651592