Detalhe da pesquisa
1.
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy.
Muscle Nerve
; 69(4): 448-458, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353293
2.
The collective burden of childhood dementia: a scoping review.
Brain
; 146(11): 4446-4455, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37471493
3.
Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy.
Mol Ther
; 31(7): 1979-1993, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012705
4.
'High hopes for treatment': Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases.
Health Expect
; 27(3): e14063, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711219
5.
Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen.
J Physiol
; 600(1): 95-109, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34783018
6.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 93(5): 530-538, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35140138
7.
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
Dev Med Child Neurol
; 64(5): 625-632, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34839535
8.
Family, healthcare professional, and societal preferences for the treatment of infantile spinal muscular atrophy: A discrete choice experiment.
Dev Med Child Neurol
; 64(6): 753-761, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34962299
9.
Delivering paediatric precision medicine: Genomic and environmental considerations along the causal pathway of childhood neurodevelopmental disorders.
Dev Med Child Neurol
; 64(9): 1077-1084, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661141
10.
'Advocacy groups are the connectors': Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics.
Health Expect
; 25(6): 3175-3191, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307981
11.
Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series.
J Pediatr
; 231: 265-268, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33259859
12.
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.
Muscle Nerve
; 64(4): 413-427, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196026
13.
Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome.
Pediatr Res
; 89(6): 1447-1451, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516799
14.
The implementation of newborn screening for spinal muscular atrophy: the Australian experience.
Genet Med
; 22(3): 557-565, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607747
15.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
16.
Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology.
Brain
; 146(9): e65-e66, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856687
17.
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
PLoS Genet
; 12(7): e1006177, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27438001
18.
Emerging therapies and challenges in spinal muscular atrophy.
Ann Neurol
; 81(3): 355-368, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28026041
19.
Nusinersen for SMA: expanded access programme.
J Neurol Neurosurg Psychiatry
; 89(9): 937-942, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549190
20.
Multimodal quantitative examination of nerve function in colorectal cancer patients prior to chemotherapy.
Muscle Nerve
; 57(4): 615-621, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881477