Detalhe da pesquisa
1.
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Muscle Nerve
; 65(1): 67-74, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606104
2.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081514
3.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Am J Hum Genet
; 97(6): 878-85, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626625
4.
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Muscle Nerve
; 54(2): 211-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789134
5.
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
Muscle Nerve
; 52(4): 668-73, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900532
6.
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Hum Mol Genet
; 21(17): 3765-75, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661499
7.
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
8.
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Dev Med Child Neurol
; 56(7): 642-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24171694
9.
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 84(6): 698-705, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23250964
10.
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.
Brain Commun
; 5(6): fcad299, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38035366
11.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Neurology
; 101(15): e1495-e1508, 2023 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643885
12.
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
13.
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Hum Mol Genet
; 19(14): 2817-27, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466733
14.
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort.
Front Pediatr
; 10: 910660, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35757141
15.
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
16.
Paediatric myasthenia gravis: Prognostic factors for drug free remission.
Neuromuscul Disord
; 30(2): 120-127, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001147
17.
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
Chest
; 158(4): 1606-1616, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387519
18.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Ann Neurol
; 64(5): 573-82, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19067344
19.
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain
; 130(Pt 8): 2024-36, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17483490
20.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain
; 130(Pt 10): 2725-35, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17878207