ASK1 inhibition: a therapeutic strategy with multi-system benefits

per Ogier, Jacqueline M., Nayagam, Bryony A., Lockhart, Paul J.
Publicat a J Mol Med (Berl) (2020)

ARID1B-mediated disorders: Mutations and possible mechanisms

per Sim, Joe C. H., White, Susan M, Lockhart, Paul J.
Publicat a Intractable Rare Dis Res (2015)

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

per Marsh, Ashley P. L., Novarino, Gaia, Lockhart, Paul J., Leventer, Richard J.
Publicat a Eur J Hum Genet (2018)

Recent advances in the detection of repeat expansions with short-read next-generation sequencing

per Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J
Publicat a F1000Res (2018)

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

per Tankard, Rick M., Bennett, Mark F., Degorski, Peter, Delatycki, Martin B., Lockhart, Paul J., Bahlo, Melanie
Publicat a Am J Hum Genet (2018)

Mutant torsinA interacts with Tyrosine Hydroxylase in cultured cells

per O'Farrell, Casey A., Martin, Kirstee, Hutton, Michael, Delatycki, Martin B., Cookson, Mark R., Lockhart, Paul J.
Publicat 2009

DEPDC5 and NPRL3 Modulate Cell Size, Filopodial Outgrowth, and Localization of mTOR in Neural Progenitor Cells and Neurons

per Iffland, Philip H., Baybis, Marianna, Barnes, Allan E., Leventer, Richard J., Lockhart, Paul J., Crino, Peter B.
Publicat a Neurobiol Dis (2018)

Long Range Regulation of Human FXN Gene Expression

per Puspasari, Novita, Rowley, Simone M., Gordon, Lavinia, Lockhart, Paul J., Ioannou, Panos A., Delatycki, Martin B., Sarsero, Joseph P.
Publicat 2011

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

per Gao, Yujing, Wilson, Gabrielle R., Salce, Nicholas, Romano, Alexandra, Mellick, George D., Stephenson, Sarah E. M., Lockhart, Paul J.
Publicat a Front Neurol (2020)

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

per Stephenson, Sarah E. M., Aumann, Timothy D., Taylor, Juliet M., Riseley, Jessica R., Li, Ruili, Mann, Jeffrey R., Tomas, Doris, Lockhart, Paul J.
Publicat a Sci Rep (2018)

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD

per Matthews, Natasha, Vance, Alasdair, Cummins, Tarrant D R, Wagner, Joseph, Connolly, Amanda, Yamada, Jacqueline, Lockhart, Paul J, Panwar, Ajay, Wallace, Robyn H, Bellgrove, Mark A
Publicat 2012

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

per Lee, Wei Shern, Baldassari, Sara, Chipaux, Mathilde, Adle‐Biassette, Homa, Stephenson, Sarah E. M., Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Baulac, Stéphanie, Leventer, Richard J.
Publicat a Ann Clin Transl Neurol (2021)

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

per Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Publicat a Neurol Genet (2016)

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

per Stutterd, Chloe A, Brock, Stefanie, Stouffs, Katrien, Fanjul-Fernandez, Miriam, Lockhart, Paul J, McGillivray, George, Mandelstam, Simone, Pope, Kate, Delatycki, Martin B, Jansen, Anna, Leventer, Richard J
Publicat a Brain Commun (2020)

Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

per Stutterd, Chloe, Diakumis, Peter, Bahlo, Melanie, Fanjul Fernandez, Miriam, Leventer, Richard J., Delatycki, Martin, Amor, David, Chow, Chung W., Stephenson, Sarah, Meisler, Miriam H., Mclean, Catriona, Lockhart, Paul J.
Publicat a Ann Clin Transl Neurol (2017)

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

per Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie
Publicat 2011

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

per Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Oulad-Abdelghani, Mustapha, Charlet-Berguerand, Nicolas, Bozaoglu, Kiymet, McLean, Catriona A., Thomas, Paul Q., Finkelstein, David I., Lockhart, Paul J.
Publicat a Mol Brain (2020)

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

per Trevis, Krysta J., Brown, Natasha J., Green, Cherie C., Lockhart, Paul J., Desai, Tarishi, Vick, Tanya, Anderson, Vicki, Pua, Emmanuel P. K., Bahlo, Melanie, Delatycki, Martin B., Scheffer, Ingrid E., Wilson, Sarah J.
Publicat a Int J Mol Sci (2020)

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

per Leventer, Richard J., Scerri, Thomas, Marsh, Ashley P.L., Pope, Kate, Gillies, Greta, Maixner, Wirginia, MacGregor, Duncan, Harvey, A. Simon, Delatycki, Martin B., Amor, David J., Crino, Peter, Bahlo, Melanie, Lockhart, Paul J.
Publicat a Neurology (2015)

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

per Aboud Syriani, Dona, Wong, Darice, Andani, Sameer, De Gusmao, Claudio M., Mao, Yuanming, Sanyoura, May, Glotzer, Giacomo, Lockhart, Paul J., Hassin-Baer, Sharon, Khurana, Vikram, Gomez, Christopher M., Perlman, Susan, Das, Soma, Fogel, Brent L.
Publicat a Neurol Genet (2020)