Detalhe da pesquisa
1.
Translating cell therapies for neurodegenerative diseases: Huntington's disease as a model disorder.
Brain
; 145(5): 1584-1597, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262656
2.
Pregnancy and weight monitoring: A feasibility study of weight charts and midwife support.
Matern Child Nutr
; 16(4): e12996, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222041
3.
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
BMC Med Genet
; 17(1): 34, 2016 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27113213
4.
Development and Delivery of a Physical Activity Intervention for People With Huntington Disease: Facilitating Translation to Clinical Practice.
J Neurol Phys Ther
; 40(2): 71-80, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26863152
5.
GLRB is the third major gene of effect in hyperekplexia.
Hum Mol Genet
; 22(5): 927-40, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184146
6.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
J Biol Chem
; 288(47): 33745-33759, 2013 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108130
7.
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Brain
; 136(Pt 10): 3085-95, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030948
8.
Searching for information about stem cells online in an age of artificial intelligence: How should the stem cell community respond?
Stem Cell Reports
; 19(2): 159-162, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278153
9.
A systematic review on adherence to continuous positive airway pressure (CPAP) treatment for obstructive sleep apnoea (OSA) in individuals with mild cognitive impairment and Alzheimer's disease dementia.
Sleep Med Rev
; 73: 101869, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924680
10.
Language-Independent Acoustic Biomarkers for Quantifying Speech Impairment in Huntington's Disease.
Am J Speech Lang Pathol
; 33(3): 1390-1405, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38530396
11.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
J Biol Chem
; 287(34): 28975-85, 2012 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22700964
12.
HD-DRUM, a Tablet-Based Drumming Training App Intervention for People With Huntington Disease: App Development Study.
JMIR Form Res
; 7: e48395, 2023 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37801351
13.
Considerations for clinical trial design and conduct in the evaluation of novel advanced therapeutics in neurodegenerative disease.
Int Rev Neurobiol
; 166: 235-279, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424094
14.
Monitoring and Managing Lifestyle Behaviors Using Wearable Activity Trackers: Mixed Methods Study of Views From the Huntington Disease Community.
JMIR Form Res
; 6(6): e36870, 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35767346
15.
Physical activity and exercise outcomes in Huntington's disease (PACE-HD): results of a 12-month trial-within-cohort feasibility study of a physical activity intervention in people with Huntington's disease.
Parkinsonism Relat Disord
; 101: 75-89, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35809488
16.
Objectively characterizing Huntington's disease using a novel upper limb dexterity test.
J Neurol
; 268(7): 2550-2559, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33555419
17.
Protocol for an open label: phase I trial within a cohort of foetal cell transplants in people with Huntington's disease.
Brain Commun
; 3(1): fcaa230, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543141
18.
A randomised feasibility study of computerised cognitive training as a therapeutic intervention for people with Huntington's disease (CogTrainHD).
Pilot Feasibility Stud
; 6: 88, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32577299
19.
A protocol for a randomised controlled, double-blind feasibility trial investigating fluoxetine treatment in improving memory and learning impairments in patients with mesial temporal lobe epilepsy: Fluoxetine, Learning and Memory in Epilepsy (FLAME trial).
Pilot Feasibility Stud
; 5: 87, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321071
20.
Physical Activity and Exercise Outcomes in Huntington Disease (PACE-HD): Protocol for a 12-Month Trial Within Cohort Evaluation of a Physical Activity Intervention in People With Huntington Disease.
Phys Ther
; 99(9): 1201-1210, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101920