Detalhe da pesquisa
1.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Hum Mol Genet
; 32(12): 2084-2092, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920481
2.
Stratification of Sepsis Patients on Admission into the Intensive Care Unit According to Differential Plasma Metabolic Phenotypes.
J Proteome Res
; 23(4): 1328-1340, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513133
3.
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
4.
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
5.
Comprehensive Lipidomic Workflow for Multicohort Population Phenotyping Using Stable Isotope Dilution Targeted Liquid Chromatography-Mass Spectrometry.
J Proteome Res
; 22(5): 1419-1433, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36828482
6.
Nonsevere Burn Induces a Prolonged Systemic Metabolic Phenotype Indicative of a Persistent Inflammatory Response Postinjury.
J Proteome Res
; 2023 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104259
7.
Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study.
Muscle Nerve
; 67(6): 489-496, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478256
8.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
9.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
10.
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
11.
Delivering multidisciplinary neuromuscular care for children via telehealth.
Muscle Nerve
; 66(1): 31-38, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426158
12.
The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy.
J Hum Nutr Diet
; 35(5): 804-815, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34936149
13.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055180
14.
Systemic Perturbations in Amine and Kynurenine Metabolism Associated with Acute SARS-CoV-2 Infection and Inflammatory Cytokine Responses.
J Proteome Res
; 20(5): 2796-2811, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724837
15.
Incomplete Systemic Recovery and Metabolic Phenoreversion in Post-Acute-Phase Nonhospitalized COVID-19 Patients: Implications for Assessment of Post-Acute COVID-19 Syndrome.
J Proteome Res
; 20(6): 3315-3329, 2021 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009992
16.
The severe epilepsy syndromes of infancy: A population-based study.
Epilepsia
; 62(2): 358-370, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475165
17.
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
J Med Genet
; 57(12): 835-842, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179706
18.
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.
PLoS Med
; 17(9): e1003222, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32956407
19.
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
Clin Genet
; 97(3): 516-520, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31693170
20.
Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.
J Paediatr Child Health
; 56(8): 1263-1269, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32468641