Russell G Snell

Russell G Snell

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Russell G Snell

Russell G Snell

Publications by authors named "Russell G Snell"

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Extensive intraspecies cryptic variation in an ancient embryonic gene regulatory network.

Elife 2019 Aug 15;8. Epub 2019 Aug 15.

Department of MCD Biology, University of California, Santa Barbara, Santa Barbara, United States.

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http://dx.doi.org/10.7554/eLife.48220DOI Listing
August 2019

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data.

J Biomed Inform 2019 Jun 6;94:103174. Epub 2019 Apr 6.

School of Biological Sciences, The University of Auckland, Auckland, New Zealand; Centre for Brain Research, The University of Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2019.103174DOI Listing
June 2019

Cerebral Vitamin B5 (D-Pantothenic Acid) Deficiency as a Potential Cause of Metabolic Perturbation and Neurodegeneration in Huntington's Disease.

Metabolites 2019 Jun 11;9(6). Epub 2019 Jun 11.

Centre for Advanced Discovery and Experimental Therapeutics, Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine & Health, The University of Manchester, Manchester M19 9NT, UK.

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http://dx.doi.org/10.3390/metabo9060113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630497PMC
June 2019

Chemical neuroanatomy of the substantia nigra in the ovine brain.

J Chem Neuroanat 2019 Apr 18;97:43-56. Epub 2019 Jan 18.

Department of Anatomy and Medical Imaging and Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.jchemneu.2019.01.007DOI Listing
April 2019

Widespread -regulation of RNA editing in a large mammal.

RNA 2019 03 10;25(3):319-335. Epub 2018 Dec 10.

Research and Development, Livestock Improvement Corporation, Hamilton 3296, New Zealand.

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http://dx.doi.org/10.1261/rna.066902.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380278PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Multiple QTL underlie milk phenotypes at the CSF2RB locus.

Genet Sel Evol 2019 Jan 24;51(1). Epub 2019 Jan 24.

Research and Development, Livestock Improvement Corporation, Ruakura Road, Hamilton, New Zealand.

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http://dx.doi.org/10.1186/s12711-019-0446-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346582PMC
January 2019

The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers.

Adv Neurobiol 2017 ;15:129-161

Centre for Brain Research, The University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand.

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http://dx.doi.org/10.1007/978-3-319-57193-5_5DOI Listing
November 2018

Modelling brain dopamine-serotonin vesicular transport disease in .

Dis Model Mech 2018 11 9;11(11). Epub 2018 Nov 9.

The School of Biological Sciences and Centre for Brain Research, The University of Auckland, Auckland 1010, New Zealand.

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.035709
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http://dx.doi.org/10.1242/dmm.035709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262812PMC
November 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Re: "Widespread prevalence of a CREBRF variant amongst Māori and Pacific children is associated with weight and height in early childhood".

Int J Obes (Lond) 2018 07 9;42(7):1392-1393. Epub 2018 Feb 9.

Centre for Longitudinal Research - He Ara ki Mua and Growing Up in New Zealand, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1038/s41366-018-0026-0DOI Listing
July 2018

Alzheimer's disease markers in the aged sheep (Ovis aries).

Neurobiol Aging 2017 10 24;58:112-119. Epub 2017 Jun 24.

The Neurogenetics Group, School of Biological Sciences, University of Auckland, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.06.020DOI Listing
October 2017

Comparison of Huntington's disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus.

J Huntingtons Dis 2016 10;5(3):297-301

School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.3233/JHD-160203DOI Listing
October 2016

Metabolite mapping reveals severe widespread perturbation of multiple metabolic processes in Huntington's disease human brain.

Biochim Biophys Acta 2016 09 4;1862(9):1650-62. Epub 2016 Jun 4.

School of Biological Sciences, Faculty of Science, University of Auckland, Auckland, New Zealand; Centre for Brain Research and Department of Anatomy with Radiology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand; Centre for Advanced Discovery and Experimental Therapeutics (CADET), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK; Institute of Human Development, Faculty of Medical and Human Sciences, The University of Manchester, Manchester, UK; Maurice Wilkins Centre for Molecular Biodiscovery, University of Auckland, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.06.002DOI Listing
September 2016

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

J Inherit Metab Dis 2016 Mar 26;39(2):305-8. Epub 2015 Oct 26.

Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1007/s10545-015-9897-6DOI Listing
March 2016

Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease.

Biochem Biophys Res Commun 2015 Dec 4-11;468(1-2):161-6. Epub 2015 Oct 30.

School of Biological Sciences, Faculty of Science, University of Auckland, Auckland, New Zealand; Centre for Brain Research and Department of Anatomy with Radiology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand; Centre for Advanced Discovery and Experimental Therapeutics (CADET), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK; Institute of Human Development, Faculty of Medical and Human Sciences, The University of Manchester, Manchester, UK; Maurice Wilkins Centre for Molecular Biodiscovery, University of Auckland, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.10.140DOI Listing
March 2016

Rapid RNA analysis of individual Caenorhabditis elegans.

MethodsX 2015 7;2:59-63. Epub 2015 Feb 7.

School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand.

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http://dx.doi.org/10.1016/j.mex.2015.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487333PMC
July 2015

Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment.

Hum Mol Genet 2014 Jul 31;23(13):3375-83. Epub 2014 Jan 31.

South Australian Research and Development Institute, Roseworthy, SA, Australia.

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http://dx.doi.org/10.1093/hmg/ddu047DOI Listing
July 2014

Metabolic proteomics of the liver and mammary gland during lactation.

J Proteomics 2012 Jul 24;75(14):4429-35. Epub 2012 Apr 24.

Centre for Biodiscovery and School of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.

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http://dx.doi.org/10.1016/j.jprot.2012.04.019DOI Listing
July 2012

An ovine transgenic Huntington's disease model.

Hum Mol Genet 2010 May 13;19(10):1873-82. Epub 2010 Feb 13.

Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1093/hmg/ddq063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860888PMC
May 2010

A splice variant of the TATA-box binding protein encoding the polyglutamine-containing N-terminal domain that accumulates in Alzheimer's disease.

Brain Res 2009 May 12;1268:190-199. Epub 2009 Mar 12.

School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2009.03.004DOI Listing
May 2009

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

Brain Res Mol Brain Res 2004 Jun;125(1-2):120-8

Department of Pharmacology, Medical Health Sciences Campus, University of Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.molbrainres.2004.03.018DOI Listing
June 2004

Molecular investigation of TBP allele length: a SCA17 cellular model and population study.

Neurobiol Dis 2003 Jun;13(1):37-45

Department of Molecular Medicine, University of Auckland, Private Bag 92019, Auckland, New Zealand.

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June 2003

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

Brain Res Mol Brain Res 2002 Dec;109(1-2):1-10

Division of Anatomy with Radiology, Faculty of Medicine and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand.

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December 2002

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Hum Mol Genet 2002 Apr;11(7):853-60

Department of Psychological Medicine and Department of Medical Genetics, University of Wales College of Medicine, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/hmg/11.7.853DOI Listing
April 2002