Gabrielle R. Wilson

发表

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

P. Lockhart, G. Egan, M. Delatycki, 2010, Human molecular genetics.

Genetics of Complex Diseases The genetics of cardiomyopathy, new technologies and the path to personalised medicine

P. Lockhart, D. Phelan, P. James, 2013 .

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

P. Lockhart, M. Bahlo, D. Amor, 2018, bioRxiv.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Katherine R. Smith, P. Lockhart, M. Bahlo, 2013, European Journal of Human Genetics.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

P. Lockhart, S. Haas, K. Hogan, 2014, American journal of human genetics.

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

P. Lockhart, G. Mellick, Yujing Gao, 2020, Frontiers in Neurology.

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

P. Lockhart, M. Oulad-Abdelghani, D. Finkelstein, 2019, Molecular Brain.

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

P. Lockhart, E. Stanley, A. Elefanty, 2018, Stem cell research.

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease

P. Lockhart, K. Bozaoglu, M. Farrer, 2018, Movement disorders : official journal of the Movement Disorder Society.

Expression and localization of the Parkin Co-Regulated Gene in mouse CNS suggests a role in ependymal cilia function

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2009, Neuroscience Letters.

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

P. Lockhart, L. Gurrin, M. Aitken, 2012, European Journal of Human Genetics.

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

P. Lockhart, E. Stanley, D. Elliott, 2016, European heart journal.

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

P. Lockhart, M. Delatycki, M. O’Bryan, 2010, Fertility and sterility.

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

P. Lockhart, R. Djaldetti, M. Bahlo, 2019, Parkinsonism & related disorders.

Regional and cellular localisation of Parkin Co-Regulated Gene in developing and adult mouse brain

P. Lockhart, M. Delatycki, Juliet M. Taylor, 2008, Brain Research.

Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology

P. Lockhart, S. Haas, K. Hogan, 2014 .

Sustained In Vivo Activity of Recombinant Bovine Granulocyte Colony Stimulating Factor (rbG-CSF) Using HEPES Buffer

P. Canning, B. Kamicker, A. Kuźniar, 2001, Pharmaceutical development and technology.

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

P. Lockhart, G. Egan, M. Delatycki, 2010, Human molecular genetics.