Detalhe da pesquisa
1.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol
; 48(2): e12771, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648194
2.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
3.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
4.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322
5.
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors.
Dev Med Child Neurol
; 59(8): 837-842, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28509411
6.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain
; 136(Pt 1): 269-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288328
7.
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Brain
; 136(Pt 2): 508-21, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23413262
8.
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Hum Mutat
; 34(11): 1501-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929671
9.
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
10.
Preventing Cardiomyopathy in DMD: A Randomized Placebo-Controlled Drug Trial.
Neurol Clin Pract
; 11(5): e661-e668, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34840880
11.
Regional changes in bone area and bone mineral content in boys with duchenne muscular dystrophy receiving corticosteroid therapy.
J Pediatr
; 156(3): 450-5, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19880140
12.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Eur J Hum Genet
; 28(3): 373-377, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527857
13.
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Ann Neurol
; 64(2): 177-86, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18551513
14.
A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.
Clin Pharmacol Drug Dev
; 8(7): 922-933, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30650257
15.
IgA nephropathy in a patient with inflammatory bowel disease.
Indian J Gastroenterol
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753227
16.
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
17.
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.
BMJ Open
; 8(12): e022572, 2018 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573480
18.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Trials
; 19(1): 291, 2018 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29793540
19.
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
J Neurol Neurosurg Psychiatry
; 78(11): 1267-70, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17578852
20.
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.
Contemp Clin Trials
; 58: 34-39, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28450193