Detalhe da pesquisa
1.
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Ann Neurol
; 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613459
2.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
3.
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
4.
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
5.
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.
Dev Med Child Neurol
; 64(8): 979-988, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385138
6.
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
7.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Hum Mol Genet
; 27(24): 4263-4272, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215711
8.
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
9.
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Hum Mol Genet
; 26(2): 320-332, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007904
10.
Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.
Dev Med Child Neurol
; 61(8): 964-971, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30663041
11.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
12.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
13.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617417
14.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253535
15.
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
16.
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
J Pediatr
; 188: 181-185.e6, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662944
17.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
18.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746549
19.
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.
J Neurol Neurosurg Psychiatry
; 87(2): 149-55, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25733532
20.
Corticosteroids for the treatment of Duchenne muscular dystrophy.
Cochrane Database Syst Rev
; (5): CD003725, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27149418