Detalhe da pesquisa
1.
Pilot study of a virtual weight management program for Duchenne muscular dystrophy.
Muscle Nerve
; 69(4): 459-466, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353295
2.
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Am J Med Genet A
; 191(6): 1599-1606, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896486
3.
Delivering multidisciplinary neuromuscular care for children via telehealth.
Muscle Nerve
; 66(1): 31-38, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426158
4.
The severe epilepsy syndromes of infancy: A population-based study.
Epilepsia
; 62(2): 358-370, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475165
5.
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Hum Mutat
; 39(12): 1995-2007, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178502
6.
Multiple cranial neuropathies in an adolescent with myelin-oligodendrocyte glycoprotein antibody-associated disease.
J Paediatr Child Health
; 59(11): 1262-1263, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698147
7.
Incidence and prevalence of NMOSD in Australia and New Zealand.
J Neurol Neurosurg Psychiatry
; 88(8): 632-638, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550069
8.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Brain
; 139(11): 2877-2890, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543974
9.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
10.
Duchenne muscular dystrophy.
J Paediatr Child Health
; 51(8): 759-64, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25752877
11.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Ann Clin Transl Neurol
; 11(5): 1250-1266, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544359
12.
High resolution chromosomal microarray in undiagnosed neurological disorders.
J Paediatr Child Health
; 49(9): 716-24, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23731025
13.
Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome.
Neurology
; 100(4): e435-e442, 2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36323522
14.
Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation.
Pediatr Infect Dis J
; 42(5): e173-e176, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795573
15.
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Neurol Genet
; 9(2): e200064, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090938
16.
Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children.
Epilepsia
; 53(7): e122-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22554258
17.
Altered conscious state as a presentation of the syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) in a paediatric patient.
J Paediatr Child Health
; 52(7): 774-6, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27243666
18.
Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial.
Clin Nutr
; 40(7): 4702-4711, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237697
19.
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
Eur J Hum Genet
; 29(1): 61-66, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32862205
20.
MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis.
Front Neurol
; 12: 722237, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34566866