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1.
GLRB is the third major gene of effect in hyperekplexia.
Hum Mol Genet
; 22(5): 927-40, 2013 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23184146
2.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
J Biol Chem
; 288(47): 33745-33759, 2013 Nov 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-24108130
3.
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Brain
; 136(Pt 10): 3085-95, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24030948
4.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
J Biol Chem
; 287(34): 28975-85, 2012 Aug 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-22700964
5.
Considerations for clinical trial design and conduct in the evaluation of novel advanced therapeutics in neurodegenerative disease.
Int Rev Neurobiol
; 166: 235-279, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36424094
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35809488
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33543141
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32577299
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31321071
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31101920
11.
Exploring computerised cognitive training as a therapeutic intervention for people with Huntington's disease (CogTrainHD): protocol for a randomised feasibility study.
Pilot Feasibility Stud
; 4: 45, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29445514
13.
Integrating technology into complex intervention trial processes: a case study.
Trials
; 17(1): 551, 2016 11 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-27855710
14.
Direct Visualisation of Abnormal Dendritic Spine Morphology in the Hippocampus of the R6/2 Transgenic Mouse Model of Huntington's Disease.
J Huntingtons Dis
; 1(2): 267-73, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-25063335
15.
Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.
Adv Protein Chem Struct Biol
; 89: 27-63, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23046881
16.
The detection and measurement of locomotor deficits in a transgenic mouse model of Huntington's disease are task- and protocol-dependent: influence of non-motor factors on locomotor function.
Brain Res Bull
; 78(6): 347-55, 2009 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-19010400
17.
Chronic treatment with 13-cis-retinoic acid changes aggressive behaviours in the resident-intruder paradigm in rats.
Eur Neuropsychopharmacol
; 19(12): 876-86, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19651495
18.
Complexin 1 knockout mice exhibit marked deficits in social behaviours but appear to be cognitively normal.
Hum Mol Genet
; 16(19): 2288-305, 2007 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17652102
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