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.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
3.
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
4.
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
5.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Brain
; 137(Pt 5): 1323-36, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24727571
6.
Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.
J Neurol Neurosurg Psychiatry
; 85(5): 538-43, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23757420
7.
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
J Neurol Neurosurg Psychiatry
; 90(4): 490-493, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921608
8.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
J Neurol Neurosurg Psychiatry
; 85(12): 1359-65, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24695763
9.
Hereditary myopathy with early respiratory failure: occurrence in various populations.
J Neurol Neurosurg Psychiatry
; 85(3): 345-53, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606733
10.
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Muscle Nerve
; 49(6): 845-57, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037712
11.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
12.
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.
Haematologica
; 103(12): e564-e566, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976739
13.
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
J Neurol Neurosurg Psychiatry
; 84(10): 1119-25, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23447650
14.
Classifying idiopathic inflammatory myopathies: comparing the performance of six existing criteria.
Clin Exp Rheumatol
; 31(5): 767-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23806844
15.
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
16.
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
17.
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.
J Neurol Neurosurg Psychiatry
; 87(4): 448-50, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952333
18.
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
Brain
; 132(Pt 11): 3175-86, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19767415
19.
The limb-girdle muscular dystrophies--diagnostic strategies.
Biochim Biophys Acta
; 1772(2): 238-42, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17123791
20.
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.
Acta Neuropathol Commun
; 4(1): 44, 2016 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27121971