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DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function door Paul J. Lockhart

Gepubliceerd in 2004

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The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease door Yujing Gao, Gabrielle R. Wilson, Sarah Stephenson, Kiymet Bozaoglu, Matthew J. Farrer, Paul J. Lockhart

Gepubliceerd in 2018

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis door Wei Shern Lee, Sara Baldassari, Sarah Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

Gepubliceerd in 2022

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RFC1-Related Disease door Kayli C. Davies, David J. Szmulewicz, Louise A. Corben, Martin B. Delatycki, Paul J. Lockhart

Gepubliceerd in 2022

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Recent advances in the detection of repeat expansions with short-read next-generation sequencing door Melanie Bahlo, Mark F. Bennett, Peter Degorski, Rick M. Tankard, Martin B. Delatycki, Paul J. Lockhart

Gepubliceerd in 2018

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Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data door Rick M. Tankard, Mark F. Bennett, Peter Degorski, Martin B. Delatycki, Paul J. Lockhart, Melanie Bahlo

Gepubliceerd in 2018

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The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein door Daniel Strausak, Sharon La Fontaine, J. E. Hill, Stephen Firth, Paul J. Lockhart, Julian F. B. Mercer

Gepubliceerd in 1999

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RING finger 1 mutations in Parkin produce altered localization of the protein door Mark Cookson, Paul J. Lockhart, Chris McLendon, Casey O’Farrell, Michael G. Schlossmacher, Matthew J. Farrer

Gepubliceerd in 2003

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Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. door Michael J. Petris, J. F. B. Mercer, Janetta G. Culvenor, Paul J. Lockhart, Paul A. Gleeson, James Camakaris

Gepubliceerd in 1996

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Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse door Gabrielle R. Wilson, H. X. Wang, Gary F. Egan, Philip Robinson, Martin B. Delatycki, Moira K. O’Bryan, Paul J. Lockhart

Gepubliceerd in 2010

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Functional association of the parkin gene promoter with idiopathic Parkinson's disease door Andrew B. West, Demetrius M. Maraganore, Julia E. Crook, Tim Lesnick, Paul J. Lockhart, Kristen Wilkes, Gregory Kapatos, John Hardy, Matthew J. Farrer

Gepubliceerd in 2002

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Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults door Katerina Vlahos, Koula Sourris, Robyn Mayberry, Penelope McDonald, Freya Bruveris, Jacqueline V. Schiesser, Kiymet Bozaoglu, Paul J. Lockhart, Edouard G. Stanley, Andrew G. Elefanty

Gepubliceerd in 2018

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Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia door Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

Gepubliceerd in 2021

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Parkin Protects against the Toxicity Associated with Mutant α-Synuclein door Leonard Petrucelli, Casey O’Farrell, Paul J. Lockhart, Melisa J. Baptista, Kathryn Kehoe, Liselot Vink, Peter S. Choi, Benjamin Wolozin, Matthew J. Farrer, John Hardy, Mark Cookson

Gepubliceerd in 2002

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Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes door Katherine R. Smith, Catherine J. Bromhead, Michael S. Hildebrand, A. Eliot Shearer, Paul J. Lockhart, Hossein Najmabadi, Richard J. Leventer, George McGillivray, David J. Amor, Richard J. Smith, Melanie Bahlo

Gepubliceerd in 2011

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Degeneration in Different Parkinsonian Syndromes Relates to Astrocyte Type and Astrocyte Protein Expression door Yun Ju Christine Song, Glenda M. Halliday, Janice L. Holton, Tammaryn Lashley, Sean S. O’Sullivan, Heather McCann, Andrew J. Lees, Tetsutaro Ozawa, David R. Williams, Paul J. Lockhart, Tamás Révész

Gepubliceerd in 2009

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Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases door Sharon La Fontaine, Stephen Firth, James Camakaris, Anna Englezou, Michael B. Theophilos, Michael J. Petris, Michelle K. Howie, Paul J. Lockhart, Mark Greenough, Hilary Brooks, Roger R. Reddel, Julian F. B. Mercer

Gepubliceerd in 1998

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Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR door Richard J. Leventer, Thomas Scerri, Ashley P.L. Marsh, Kate Pope, Greta Gillies, Wirginia Maixner, Duncan MacGregor, A. Simon Harvey, Martin B. Delatycki, David J. Amor, Peter B. Crino, Melanie Bahlo, Paul J. Lockhart

Gepubliceerd in 2015

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Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA door Wei Shern Lee, Sarah Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, A. Simon Harvey, Paul J. Lockhart, Richard J. Leventer

Gepubliceerd in 2019

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Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort door Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, Claudio M. de Gusmão, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J. Lockhart, Sharon Hassin‐Baer, Vikram Khurana, Christopher M. Gómez, Susan Perlman, Soma Das, Brent L. Fogel

Gepubliceerd in 2020

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DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function door Paul J. Lockhart

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease door Yujing Gao, Gabrielle R. Wilson, Sarah Stephenson, Kiymet Bozaoglu, Matthew J. Farrer, Paul J. Lockhart

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis door Wei Shern Lee, Sara Baldassari, Sarah Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

<i>RFC1</i>-Related Disease door Kayli C. Davies, David J. Szmulewicz, Louise A. Corben, Martin B. Delatycki, Paul J. Lockhart

Recent advances in the detection of repeat expansions with short-read next-generation sequencing door Melanie Bahlo, Mark F. Bennett, Peter Degorski, Rick M. Tankard, Martin B. Delatycki, Paul J. Lockhart

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data door Rick M. Tankard, Mark F. Bennett, Peter Degorski, Martin B. Delatycki, Paul J. Lockhart, Melanie Bahlo

The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein door Daniel Strausak, Sharon La Fontaine, J. E. Hill, Stephen Firth, Paul J. Lockhart, Julian F. B. Mercer

RING finger 1 mutations in Parkin produce altered localization of the protein door Mark Cookson, Paul J. Lockhart, Chris McLendon, Casey O’Farrell, Michael G. Schlossmacher, Matthew J. Farrer

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. door Michael J. Petris, J. F. B. Mercer, Janetta G. Culvenor, Paul J. Lockhart, Paul A. Gleeson, James Camakaris

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse door Gabrielle R. Wilson, H. X. Wang, Gary F. Egan, Philip Robinson, Martin B. Delatycki, Moira K. O’Bryan, Paul J. Lockhart

Functional association of the parkin gene promoter with idiopathic Parkinson's disease door Andrew B. West, Demetrius M. Maraganore, Julia E. Crook, Tim Lesnick, Paul J. Lockhart, Kristen Wilkes, Gregory Kapatos, John Hardy, Matthew J. Farrer

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults door Katerina Vlahos, Koula Sourris, Robyn Mayberry, Penelope McDonald, Freya Bruveris, Jacqueline V. Schiesser, Kiymet Bozaoglu, Paul J. Lockhart, Edouard G. Stanley, Andrew G. Elefanty

Gradient of brain mosaic <i>RHEB</i> variants causes a continuum of cortical dysplasia door Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

Parkin Protects against the Toxicity Associated with Mutant α-Synuclein door Leonard Petrucelli, Casey O’Farrell, Paul J. Lockhart, Melisa J. Baptista, Kathryn Kehoe, Liselot Vink, Peter S. Choi, Benjamin Wolozin, Matthew J. Farrer, John Hardy, Mark Cookson

Zoekresultaten - Paul J. Lockhart

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function door Paul J. Lockhart

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease door Yujing Gao, Gabrielle R. Wilson, Sarah Stephenson, Kiymet Bozaoglu, Matthew J. Farrer, Paul J. Lockhart

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis door Wei Shern Lee, Sara Baldassari, Sarah Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

<i>RFC1</i>-Related Disease door Kayli C. Davies, David J. Szmulewicz, Louise A. Corben, Martin B. Delatycki, Paul J. Lockhart

Recent advances in the detection of repeat expansions with short-read next-generation sequencing door Melanie Bahlo, Mark F. Bennett, Peter Degorski, Rick M. Tankard, Martin B. Delatycki, Paul J. Lockhart

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data door Rick M. Tankard, Mark F. Bennett, Peter Degorski, Martin B. Delatycki, Paul J. Lockhart, Melanie Bahlo

The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein door Daniel Strausak, Sharon La Fontaine, J. E. Hill, Stephen Firth, Paul J. Lockhart, Julian F. B. Mercer

RING finger 1 mutations in Parkin produce altered localization of the protein door Mark Cookson, Paul J. Lockhart, Chris McLendon, Casey O’Farrell, Michael G. Schlossmacher, Matthew J. Farrer

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. door Michael J. Petris, J. F. B. Mercer, Janetta G. Culvenor, Paul J. Lockhart, Paul A. Gleeson, James Camakaris

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse door Gabrielle R. Wilson, H. X. Wang, Gary F. Egan, Philip Robinson, Martin B. Delatycki, Moira K. O’Bryan, Paul J. Lockhart

Functional association of the parkin gene promoter with idiopathic Parkinson's disease door Andrew B. West, Demetrius M. Maraganore, Julia E. Crook, Tim Lesnick, Paul J. Lockhart, Kristen Wilkes, Gregory Kapatos, John Hardy, Matthew J. Farrer

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults door Katerina Vlahos, Koula Sourris, Robyn Mayberry, Penelope McDonald, Freya Bruveris, Jacqueline V. Schiesser, Kiymet Bozaoglu, Paul J. Lockhart, Edouard G. Stanley, Andrew G. Elefanty

Gradient of brain mosaic <i>RHEB</i> variants causes a continuum of cortical dysplasia door Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer

Parkin Protects against the Toxicity Associated with Mutant α-Synuclein door Leonard Petrucelli, Casey O’Farrell, Paul J. Lockhart, Melisa J. Baptista, Kathryn Kehoe, Liselot Vink, Peter S. Choi, Benjamin Wolozin, Matthew J. Farrer, John Hardy, Mark Cookson

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