Detalhe da pesquisa
1.
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
2.
SARS-CoV-2 vaccination and new-onset myasthenia gravis: A report of 7 cases and review of the literature.
Neuromuscul Disord
; 32(10): 785-789, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130855
3.
Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF.
Amyotroph Lateral Scler Frontotemporal Degener
; : 1-9, 2020 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597226
4.
The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motor neuron disease.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(5-6): 317-327, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116037
5.
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Brain
; 129(Pt 10): 2773-83, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16945936
6.
A study of the utility of azathioprine metabolite testing in myasthenia gravis.
J Neuroimmunol
; 293: 82-85, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27049566
7.
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
JAMA Neurol
; 73(12): 1433-1439, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27749956
8.
A treatable muscle disease.
Pract Neurol
; 9(4): 233-6, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19608775
9.
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
Neuromuscul Disord
; 23(2): 170-5, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23219351
10.
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Science
; 313(5795): 1975-8, 2006 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-16917026
11.
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
Hum Mol Genet
; 13(23): 2947-57, 2004 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15471888