Detalhe da pesquisa
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
2.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
3.
Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.
Dev Med Child Neurol
; 66(2): 206-215, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421242
4.
Psychosocial experiences of clinicians providing care for children with severe neurological impairment.
Dev Med Child Neurol
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38837791
5.
'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
6.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159883
7.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Dev Med Child Neurol
; 65(1): 50-57, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701389
8.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
9.
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review.
Genet Med
; 24(3): 535-548, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906474
10.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529
11.
'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
12.
Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope.
J Paediatr Child Health
; 58(10): 1726-1728, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062939
13.
Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty.
J Paediatr Child Health
; 58(10): 1722-1725, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36069627
14.
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.
J Paediatr Child Health
; 58(10): 1718-1721, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36069374
15.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat
; 42(7): 835-847, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847015
16.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
17.
Quantitative neurogenetics: applications in understanding disease.
Biochem Soc Trans
; 49(4): 1621-1631, 2021 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282824
18.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
19.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212383
20.
Feasibility of a mental health informed physical activity intervention for the carers of children with developmental and epileptic encephalopathy.
Epilepsy Behav
; 121(Pt A): 108022, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020203