Mark Handley - Dissemin

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All papers authored by Mark Handley

This paper is made freely available by the publisher.

2019 Mark T. Handley

ORCID

, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath

ORCID

, Mihail Halachev, Gavin Falkous, Denise Williams

ORCID

ORCID

, Alison Meynert

ORCID

, Eleanor S. Raymond

ORCID

, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis and 6 other authors

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2018 Mark T. Handley

ORCID

, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath

ORCID

, Mihail Halachev, Gavin Falkous, Denise Williams

ORCID

ORCID

, Alison Meynert, David R. FitzPatrick

ORCID

, Eleanor S. Raymond

ORCID

, Harris Morrison, Stephen Brown, Emma Allan and 6 other authors

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

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This paper is made freely available by the publisher.

Mark T. Handley

ORCID

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2017 Emma A. Hall, Michael S. Nahorski, Lyndsay M. Murray, Ranad Shaheen, Emma Perkins, Kosala N. Dissanayake, Yosua Kristaryanto, Ross A. Jones, Julie Vogt, Manon Rivagorda, Mark T. Handley

ORCID

, Girish R. Mali, Tooba Quidwai, Dinesh C. Soares, Margaret A. Keighren and 20 other authors

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

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Hemant Bengani, Rita Ibitoye

ORCID

, Sa Lynch

ORCID

, Melissa Lees, Wayne Lam, Ann Nordgren

ORCID

, M. Kvarnugn, H. Malmgren

ORCID

, M. Kvarnung, Sarju Mehta, Shane McKee

ORCID

, Margo Whiteford

ORCID

ORCID

, Fiona Stewart, Mark Handley

ORCID

and 20 other authors

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

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Rachel L. Taylor, Mark T. Handley

ORCID

, Sarah Waller, Christopher Campbell, Jill Urquhart, Alison M. Meynert, Jamie M. Ellingford

ORCID

, Deirdre Donnelly, Gisela Wilcox, I. Chris Lloyd, Helen Mundy, David R. FitzPatrick, Charu Deshpande, Jill Clayton-Smith, Graeme C. Black

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

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2016 Irene Aligianis, Mark Handley

ORCID

RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, and the Warburg Micro and Martsolf Syndromes

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Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, L. Therese Bergendahl, Alan Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo López Laso, Rocio Sanchez-Carpintero and 24 other authors

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Mark T. Handley

ORCID

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2015 Mark T. Handley

ORCID

, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

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2014 Andreas Gerondopoulos, Ricardo Nunes Bastos, Shin-Ichiro Yoshimura, Rachel Anderson, Sarah Carpanini, Irene Aligianis, Mt Handley

ORCID

, Fa Barr

Rab18 and a Rab18 GEF complex are required for normal ER structure.

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Mark T. Handley

ORCID

, Stephen Brown, Alison M. Meynert, André Mégarbané, Elisabeth Freyer, Ian J. Jackson, Martin S. Taylor, Irene A. Aligianis

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

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This paper is made freely available by the publisher.

Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley

ORCID

, Harris Morrison, David Brownstein, Thomas M. Wishart, Michael A. Cousin

ORCID

, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

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2013 Ryan P. Liegel, Mark T. Handley

ORCID

, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J. Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Ghada m H. Abdel-Salam, Eamonn Sheridan, Ghada M. H. Abdel-Salam, Paulien A. Terhal and 9 other authors

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

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Mark T. Handley

ORCID

, Deborah J. Morris-Rosendahl, Stephen Brown, Fiona Macdonald, Carol Hardy, Danai Bem, Sarah M. Carpanini, Guntram Borck, Loreto Martorell

ORCID

, Claudia Izzi, Francesca Faravelli, Patrizia Accorsi, Lorenzo Pinelli, Lina Basel-Vanagaite, Gabriela Peretz and 20 other authors

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

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2012 Mark T. Handley

ORCID

, Irene A. Aligianis

RAB3GAP1 , RAB3GAP2 and RAB18 : disease genes in Micro and Martsolf syndromes

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2011 Danai Bem, Si Yoshimura, Ricardo Nunes-Bastos, Frances F Bond, Manju A. Kurian, Fatima Rahman, Ga Kirby, Yavor Hadzhiev, Imran Masood, Ania Aa Straatman-Iwanowska, Frances C. Bond, Je Morton, Alisdair McNeill, Shanaz Ss Pasha, Er Maher and 15 other authors

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

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2010 Mark T. W. Handley

ORCID

, Bob Burgoyne, Lu-Yun Lian, Lee P. Haynes, Robert D. Burgoyne

Structural and Functional Deficits in a Neuronal Calcium Sensor-1 Mutant Identified in a Case of Autistic Spectrum Disorder

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2009 Robert D. Burgoyne, Jeff W. Barclay, Leo F. Ciufo, Margaret E. Graham, Mark T. W. Handley

ORCID

ORCID

The Functions of Munc18-1 in Regulated Exocytosis

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This paper was not found in any repository, but could be made available legally by the author.

2008 Mark T. W. Handley

ORCID

, Bob Burgoyne, Robert D. Burgoyne

The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells

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