Brett Graham

Brett Graham

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Am J Med Genet A 2019 Sep 12. Epub 2019 Sep 12.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.61353DOI Listing
September 2019

Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Sep 5;1128:121786. Epub 2019 Sep 5.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.jchromb.2019.121786DOI Listing
September 2019

Activation of lateral hypothalamic group III metabotropic glutamate receptors suppresses cocaine-seeking following abstinence and normalizes drug-associated increases in excitatory drive to orexin/hypocretin cells.

Neuropharmacology 2019 08 22;154:22-33. Epub 2018 Sep 22.

School of Biomedical Sciences & Pharmacy, Centre for Brain and Mental Health Research, Hunter Medical Research Institute, University of Newcastle, 2308, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2018.09.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520213PMC
August 2019

Lysosomal Signaling Promotes Longevity by Adjusting Mitochondrial Activity.

Dev Cell 2019 03 31;48(5):685-696.e5. Epub 2019 Jan 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Huffington Center on Aging, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15345807183112
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http://dx.doi.org/10.1016/j.devcel.2018.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613828PMC
March 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Am J Hum Genet 2018 12 29;103(6):1030-1037. Epub 2018 Nov 29.

Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288200PMC
December 2018

Computed tomographic angiography in stroke and high-risk transient ischemic attack: Do not leave the emergency department without it!

Int J Stroke 2018 10 17;13(7):673-686. Epub 2018 Apr 17.

1 Department of Clinical Neurosciences, University of Calgary, Canada.

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http://dx.doi.org/10.1177/1747493018764172DOI Listing
October 2018

Moving functional classification of dorsal horn neurons from art to science.

J Physiol 2018 05 1;596(9):1543-1544. Epub 2018 Apr 1.

School of Biomedical Sciences & Pharmacy, Faculty of Health, University of Newcastle, Callaghan, 2300, NSW, Australia.

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http://dx.doi.org/10.1113/JP275870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924819PMC
May 2018

Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.

Brain Res 2018 01 5;1679:155-170. Epub 2017 Dec 5.

Department of Veterinary Pathobiology, Texas A&M University, College Station, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2017.11.029DOI Listing
January 2018

Altered intrinsic and synaptic properties of lumbosacral dorsal horn neurons in a mouse model of colitis.

Neuroscience 2017 Oct 23;362:152-167. Epub 2017 Aug 23.

School of Biomedical Sciences & Pharmacy, University of Newcastle, Callaghan, NSW 2308, Australia; Hunter Medical Research Institute (HMRI), Rankin Park, NSW 2305, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2017.08.029DOI Listing
October 2017

Chemogenetic activation of the lateral hypothalamus reverses early life stress-induced deficits in motivational drive.

Eur J Neurosci 2017 Oct 22;46(7):2285-2296. Epub 2017 Sep 22.

Neurobiology of Addiction Laboratory, School of Biomedical Sciences and Pharmacy and the Centre for Brain and Mental Health, University of Newcastle and the Hunter Medical Research Institute, Newcastle, NSW, 2308, Australia.

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http://dx.doi.org/10.1111/ejn.13674DOI Listing
October 2017

Clopidogrel Load Reduces Emboli in Carotid Artery Stenosis With Free-Floating Thrombus.

Can J Neurol Sci 2017 09 24;44(5):594-596. Epub 2017 May 24.

2Departments of Clinical Neurosciences,Radiology, and Community Health Sciences,Cumming School of Medicine,University of Calgary,Calgary,AB,Canada.

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http://dx.doi.org/10.1017/cjn.2017.48DOI Listing
September 2017

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Mol Genet Metab 2017 09 29;122(1-2):60-66. Epub 2017 Jun 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612879PMC
September 2017

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.

Mol Genet Metab 2017 08 24;121(4):314-319. Epub 2017 Jun 24.

Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.009DOI Listing
August 2017

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173024
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http://dx.doi.org/10.1016/j.ajhg.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544382PMC
August 2017

Gabapentin Modulates HCN4 Channel Voltage-Dependence.

Front Pharmacol 2017 21;8:554. Epub 2017 Aug 21.

Florey Institute of Neuroscience and Mental Health, The University of Melbourne, ParkvilleVIC, Australia.

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http://dx.doi.org/10.3389/fphar.2017.00554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566583PMC
August 2017

Anatomical and Molecular Properties of Long Descending Propriospinal Neurons in Mice.

Front Neuroanat 2017 6;11. Epub 2017 Feb 6.

School of Biomedical Sciences and Pharmacy, University of NewcastleCallaghan, NSW, Australia; Hunter Medical Research InstituteNewcastle, NSW, Australia.

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http://journal.frontiersin.org/article/10.3389/fnana.2017.00
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http://dx.doi.org/10.3389/fnana.2017.00005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292581PMC
February 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Neuron 2017 Jan 22;93(1):115-131. Epub 2016 Dec 22.

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.11.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242142PMC
January 2017

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

Mol Genet Metab 2016 09 25;119(1-2):68-74. Epub 2016 Jul 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031536PMC
September 2016

Hashimoto Encephalopathy Presenting With Stroke-Like Episodes in an Adolescent Female: A Case Report and Literature Review.

Pediatr Neurol 2016 06 3;59:62-70. Epub 2016 Mar 3.

Department of Pediatrics, Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.02.003DOI Listing
June 2016

Importance of Developing Stroke Systems of Care to Improve Access to Endovascular Therapies.

World Neurosurg 2016 Apr 2;88:678-80. Epub 2016 Mar 2.

Saskatoon Stroke Program, Royal University Hospital, University of Saskatchewan, Saskatoon, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S18788750160034
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http://dx.doi.org/10.1016/j.wneu.2016.02.098DOI Listing
April 2016

Anatomy and function of an excitatory network in the visual cortex.

Nature 2016 Apr 28;532(7599):370-4. Epub 2016 Mar 28.

Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/nature17192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844839PMC
April 2016

Increased white matter neuron density in a rat model of maternal immune activation - Implications for schizophrenia.

Prog Neuropsychopharmacol Biol Psychiatry 2016 Feb 15;65:118-26. Epub 2015 Sep 15.

Preclinical Neurobiology Research Group, School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle, Callaghan, NSW 2308, Australia; Centre for Translational Neuroscience and Mental Health, The University of Newcastle, Callaghan, NSW 2308, Australia; Hunter Medical Research Institute, New Lambton Heights, NSW 2305, Australia; Schizophrenia Research Institute, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pnpbp.2015.09.006DOI Listing
February 2016

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

J Pediatr 2016 Feb 18;169:208-13.e2. Epub 2015 Nov 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.10.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729603PMC
February 2016

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639746PMC
November 2015

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.

PLoS Biol 2015 Jul 15;13(7):e1002197. Epub 2015 Jul 15.

Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, United States of America; Howard Hughes Medical Institute, BCM, Houston, Texas, United States of America; Program in Developmental Biology, BCM, Houston, Texas, United States of America; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, United States of America; Department of Neuroscience, BCM, Houston, Texas, United States of America.

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https://dx.plos.org/10.1371/journal.pbio.1002197
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http://dx.doi.org/10.1371/journal.pbio.1002197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503542PMC
July 2015

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Cell Metab 2015 Mar;21(3):417-27

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757431PMC
March 2015

Properties of sodium currents in neonatal and young adult mouse superficial dorsal horn neurons.

Mol Pain 2015 Mar 28;11:17. Epub 2015 Mar 28.

School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine and Hunter Medical Research Institute, The University of Newcastle, Callaghan, Newcastle, NSW, 2308, Australia.

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http://dx.doi.org/10.1186/s12990-015-0014-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381457PMC
March 2015

Spicing up the gabapentionoids: facilitating gabapentin entry in spinal pain circuits.

Neurosci Lett 2015 Jan 1;584:395-6. Epub 2014 Sep 1.

Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, The University of Newcastle, Callaghan, NSW 2308, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S03043940140070
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http://dx.doi.org/10.1016/j.neulet.2014.08.039DOI Listing
January 2015

Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.

Cell 2015 Jan;160(1-2):177-90

Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Structural and Computational Biology & Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674140158
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http://dx.doi.org/10.1016/j.cell.2014.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377295PMC
January 2015

Electrophysiological characteristics of paraventricular thalamic (PVT) neurons in response to cocaine and cocaine- and amphetamine-regulated transcript (CART).

Front Behav Neurosci 2014 22;8:280. Epub 2014 Aug 22.

Neurobiology of Addiction Laboratory, School of Biomedical Sciences and Pharmacy, and The Centre for Translational Neuroscience and Mental Health Research, University of Newcastle and the Hunter Medical Research Institute Newcastle, NSW, Australia.

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http://dx.doi.org/10.3389/fnbeh.2014.00280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162416PMC
October 2014

Orexin antagonists for neuropsychiatric disease: progress and potential pitfalls.

Front Neurosci 2014 25;8:36. Epub 2014 Feb 25.

Neurobiology of Addiction Laboratory, The Centre for Translational Neuroscience and Mental Health Research, School of Biomedical Sciences and Pharmacy, University of Newcastle and the Hunter Medical Research Institute Newcastle, NSW, Australia.

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http://dx.doi.org/10.3389/fnins.2014.00036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934415PMC
June 2014

Contrasting alterations to synaptic and intrinsic properties in upper-cervical superficial dorsal horn neurons following acute neck muscle inflammation.

Mol Pain 2014 Apr 12;10:25. Epub 2014 Apr 12.

School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, The University of Newcastle and Hunter Medical Research Institute, Room 411 Medical Sciences Building, University Drive, Newcastle, NSW 2308, Australia.

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http://dx.doi.org/10.1186/1744-8069-10-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032164PMC
April 2014

The search for novel analgesics: re-examining spinal cord circuits with new tools.

Front Pharmacol 2014 25;5:22. Epub 2014 Feb 25.

School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, Hunter Medical Research Institute, University of Newcastle Newcastle, NSW, Australia.

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http://journal.frontiersin.org/article/10.3389/fphar.2014.00
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http://dx.doi.org/10.3389/fphar.2014.00022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934318PMC
March 2014

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.

Dis Model Mech 2014 Feb 21;7(2):271-80. Epub 2013 Nov 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1242/dmm.013466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917248PMC
February 2014

Pioneers in CNS inhibition: 1. Ivan M. Sechenov, the first to clearly demonstrate inhibition arising in the brain.

Brain Res 2014 Feb 14;1548:20-48. Epub 2013 Dec 14.

School of Biomedical Sciences and Pharmacy, University of Newcastle and Hunter Medical Research Institute, Newcastle, NSW 2308, Australia.

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http://dx.doi.org/10.1016/j.brainres.2013.12.006DOI Listing
February 2014

A systematic review of the evidence for central nervous system plasticity in animal models of inflammatory-mediated gastrointestinal pain.

Inflamm Bowel Dis 2014 Jan;20(1):176-95

*School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia; and †Hunter Medical Research Institute (HMRI), Rankin Park, New South Wales, Australia.

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http://dx.doi.org/10.1097/01.MIB.0000437499.52922.b1DOI Listing
January 2014

Posterior reversible encephalopathy syndrome in an adult patient undergoing peritoneal dialysis: a case report and literature review.

BMC Nephrol 2014 Jan 13;15:10. Epub 2014 Jan 13.

Department of Medicine, Division of Neurology, University of Saskatchewan, Room 3544 RUH, 103 Hospital Drive, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1186/1471-2369-15-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893488PMC
January 2014

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

BMC Med Genet 2013 Aug 16;14:83. Epub 2013 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1186/1471-2350-14-83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849PMC
August 2013

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Hum Mutat 2013 Jun 2;34(6):882-93. Epub 2013 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/humu.22307DOI Listing
June 2013

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.

J Cell Biol 2013 Mar;200(6):807-20

Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1083/jcb.201208033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3601355PMC
March 2013

A self-calibrating, camera-based eye tracker for the recording of rodent eye movements.

Front Neurosci 2010 29;4:193. Epub 2010 Nov 29.

The Rowland Institute at Harvard, Harvard University Cambridge, MA, USA.

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http://dx.doi.org/10.3389/fnins.2010.00193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2998901PMC
October 2012

Cocaine potentiates excitatory drive in the perifornical/lateral hypothalamus.

J Physiol 2012 Aug 28;590(16):3677-89. Epub 2012 May 28.

1School of Biomedical Sciences and Pharmacy, and the Centre for Translational Neuroscience and Mental Health Research, University of Newcastle,Callaghan, NSW 2308, Australia.

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http://dx.doi.org/10.1113/jphysiol.2012.230268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476627PMC
August 2012

Voltage-dependant anion channels: novel insights into isoform function through genetic models.

Biochim Biophys Acta 2012 Jun 25;1818(6):1477-85. Epub 2011 Oct 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77025, USA.

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http://dx.doi.org/10.1016/j.bbamem.2011.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4273737PMC
June 2012

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Genet Med 2012 Jun 8;14(6):620-6. Epub 2012 Mar 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2012.4DOI Listing
June 2012

Diagnostic challenges of mitochondrial disorders: complexities of two genomes.

Authors:
Brett H Graham

Methods Mol Biol 2012 ;837:35-46

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://link.springer.com/content/pdf/10.1007/978-1-61779-504
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http://link.springer.com/10.1007/978-1-61779-504-6_3
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http://dx.doi.org/10.1007/978-1-61779-504-6_3DOI Listing
April 2012

Measurement of mitochondrial oxygen consumption using a Clark electrode.

Methods Mol Biol 2012 ;837:63-72

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/978-1-61779-504-6_5DOI Listing
April 2012

A horizontal slice preparation for examining the functional connectivity of dorsal column fibres in mouse spinal cord.

J Neurosci Methods 2011 Sep 24;200(2):113-20. Epub 2011 Jun 24.

School of Biomedical Sciences and Pharmacy, Faculty of Health and Hunter Medical Research Institute, The University of Newcastle, Callaghan, NSW 2308, Australia.

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http://dx.doi.org/10.1016/j.jneumeth.2011.06.017DOI Listing
September 2011

Early history of glycine receptor biology in Mammalian spinal cord circuits.

Front Mol Neurosci 2010 21;3:13. Epub 2010 May 21.

School of Biomedical Sciences and Pharmacy, The University of Newcastle and Hunter Medical Research Institute Newcastle, NSW, Australia.

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http://journal.frontiersin.org/article/10.3389/fnmol.2010.00
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http://dx.doi.org/10.3389/fnmol.2010.00013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889717PMC
July 2011

Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.

J Neural Transm (Vienna) 2011 Jul 4;118(7):987-95. Epub 2011 Mar 4.

Cell Signalling Laboratory, Department of Psychiatry, University of Saskatchewan, B45 HSB, 107 Wiggins Rd, Saskatoon, SK, S7N 5E5, Canada.

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http://dx.doi.org/10.1007/s00702-011-0616-7DOI Listing
July 2011

The role of propriospinal interneurons in recovery from spinal cord injury.

Neuropharmacology 2011 Apr 18;60(5):809-22. Epub 2011 Jan 18.

School of Biomedical Sciences and Pharmacy, Faculty of Health and Hunter Medical Research Institute, The University of Newcastle, Callaghan, NSW 2308, Australia.

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http://dx.doi.org/10.1016/j.neuropharm.2011.01.016DOI Listing
April 2011

Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.

Dev Disabil Res Rev 2010 ;16(2):200-18

Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245-3207, USA.

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http://doi.wiley.com/10.1002/ddrr.114
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http://dx.doi.org/10.1002/ddrr.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628736PMC
January 2011

Cervix stimulation evokes predominantly subthreshold synaptic responses in mouse thoracolumbar and lumbosacral superficial dorsal horn neurons.

J Sex Med 2010 Jun 15;7(6):2068-2076. Epub 2010 Mar 15.

School of Biomedical Sciences and Pharmacy, Medical Sciences Building, University of Newcastle, Callaghan, New South Wales, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S174360951533038
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http://dx.doi.org/10.1111/j.1743-6109.2010.01768.xDOI Listing
June 2010

Current molecular diagnostic algorithm for mitochondrial disorders.

Mol Genet Metab 2010 Jun 4;100(2):111-7. Epub 2010 Mar 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.024DOI Listing
June 2010

Ketamine anesthesia helps preserve neuronal viability.

J Neurosci Methods 2010 Jun 7;189(2):230-2. Epub 2010 Apr 7.

School of Biomedical Sciences and Pharmacy, University of Newcastle, University Drive, Newcastle, NSW 2308, Australia.

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http://dx.doi.org/10.1016/j.jneumeth.2010.03.029DOI Listing
June 2010

Different forms of glycine- and GABA(A)-receptor mediated inhibitory synaptic transmission in mouse superficial and deep dorsal horn neurons.

Mol Pain 2009 Nov 18;5:65. Epub 2009 Nov 18.

School of Biomedical Sciences and Pharmacy, The University of Newcastle and Hunter Medical Research Institute, University Drive, Callaghan, NSW 2308, Australia.

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http://dx.doi.org/10.1186/1744-8069-5-65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784755PMC
November 2009