Louis J Ptacek

Louis J Ptacek

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Louis J Ptacek

Publications by authors named "Louis J Ptacek"

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Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.

Sci Transl Med 2019 Oct;11(514)

Department of Neurology, University of California San Francisco, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1126/scitranslmed.aax2014DOI Listing
October 2019

A Rare Mutation of β-Adrenergic Receptor Affects Sleep/Wake Behaviors.

Neuron 2019 Sep 28;103(6):1044-1055.e7. Epub 2019 Aug 28.

Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94143, USA; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2019.07.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763376PMC
September 2019

Genetics of the human circadian clock and sleep homeostat.

Neuropsychopharmacology 2019 Aug 10. Epub 2019 Aug 10.

Department of Neurology, University of California San Francisco, San Francisco, CA, 94143, USA.

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http://dx.doi.org/10.1038/s41386-019-0476-7DOI Listing
August 2019

TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.

Proc Natl Acad Sci U S A 2019 Jun 28;116(24):12045-12053. Epub 2019 May 28.

Department of Neurology, University of California, San Francisco, CA 94143;

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http://dx.doi.org/10.1073/pnas.1819110116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6575169PMC
June 2019

Disorders of sleep and circadian rhythms.

Handb Clin Neurol 2018 ;148:531-538

Department of Neurology, University of California, San Francisco, CA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804446407650
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http://dx.doi.org/10.1016/B978-0-444-64076-5.00034-XDOI Listing
August 2018

DEC2 modulates orexin expression and regulates sleep.

Proc Natl Acad Sci U S A 2018 03 12;115(13):3434-3439. Epub 2018 Mar 12.

Department of Neurology, University of California, San Francisco, CA 94143;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1801693115
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http://dx.doi.org/10.1073/pnas.1801693115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879715PMC
March 2018

Developing the field of neurogenetics.

Neurogenetics 2017 12;18(4):183-184

Department of Neurology, University of California, San Francisco, USA.

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http://dx.doi.org/10.1007/s10048-017-0530-8DOI Listing
December 2017

Guidelines for Genome-Scale Analysis of Biological Rhythms.

J Biol Rhythms 2017 Oct 3;32(5):380-393. Epub 2017 Nov 3.

27 Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1177/0748730417728663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5692188PMC
October 2017

Human genetics and sleep behavior.

Curr Opin Neurobiol 2017 06 16;44:43-49. Epub 2017 Mar 16.

Kavli Institute for Fundamental Neuroscience, Weill Institute of Neuroscience, Department of Neurology, University of California San Francisco, San Francisco, CA 94143, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09594388163022
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http://dx.doi.org/10.1016/j.conb.2017.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511083PMC
June 2017

FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice.

Cell Rep 2017 04;19(2):255-266

Department of Neurology, University of California, San Francisco, CA 94143, USA; Weill Neuroscience of Institute, University of California, San Francisco, San Francisco, CA 94143, USA; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA; Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247173038
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http://dx.doi.org/10.1016/j.celrep.2017.03.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423466PMC
April 2017

The intricate dance of post-translational modifications in the rhythm of life.

Nat Struct Mol Biol 2016 Dec;23(12):1053-1060

Kavli Institute for Fundamental Neuroscience; Weill Institute of Neurosciences; Howard Hughes Medical Institute; and Department of Neurology, University of California, San Francisco, San Francisco, California USA.

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http://dx.doi.org/10.1038/nsmb.3326DOI Listing
December 2016

A Cryptochrome 2 mutation yields advanced sleep phase in humans.

Elife 2016 08 16;5. Epub 2016 Aug 16.

Department of Neurology, University of California, San Francisco, San Francisco, United States.

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http://dx.doi.org/10.7554/eLife.16695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5398888PMC
August 2016

Episodic and electrical nervous system disorders caused by nonchannel genes.

Annu Rev Physiol 2015 17;77:525-41. Epub 2014 Oct 17.

Department of Neurology.

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http://dx.doi.org/10.1146/annurev-physiol-021014-071814DOI Listing
November 2015

Episodic disorders: channelopathies and beyond.

Authors:
Louis J Ptáček

Annu Rev Physiol 2015 ;77:475-9

Department of Neurology, Howard Hughes Medical Institute, University of California, San Francisco, California 94158-2324; email:

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http://dx.doi.org/10.1146/annurev-physiol-021014-071922DOI Listing
November 2015

Genetics of human sleep behavioral phenotypes.

Methods Enzymol 2015 26;552:309-24. Epub 2014 Dec 26.

Department of Neurology, University of California, San Francisco, San Francisco, California, USA. Electronic address:

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http://dx.doi.org/10.1016/bs.mie.2014.10.046DOI Listing
November 2015

Microfluidic droplet enrichment for targeted sequencing.

Nucleic Acids Res 2015 Jul 14;43(13):e86. Epub 2015 Apr 14.

Department of Bioengineering and Therapeutic Sciences, California Institute for Quantitative Biosciences, University of California, San Francisco, CA 94158, USA

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http://dx.doi.org/10.1093/nar/gkv297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513844PMC
July 2015

Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.

Proc Natl Acad Sci U S A 2015 Mar 17;112(10):2935-41. Epub 2015 Feb 17.

Department of Neurology, Howard Hughes Medical Institute, University of California, San Francisco, CA 94158;

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http://dx.doi.org/10.1073/pnas.1501364112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364199PMC
March 2015

Solving the mystery of human sleep schedules one mutation at a time.

Crit Rev Biochem Mol Biol 2013 Sep-Oct;48(5):465-75. Epub 2013 Sep 3.

Department of Neurology, University of California San Francisco , San Francisco, CA , USA and.

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http://dx.doi.org/10.3109/10409238.2013.831395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4089902PMC
May 2014

Diversity of human clock genotypes and consequences.

Prog Mol Biol Transl Sci 2013 ;119:51-81

Department of Neurology, University of California, San Francisco, California, USA.

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https://linkinghub.elsevier.com/retrieve/pii/B97801239697120
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http://dx.doi.org/10.1016/B978-0-12-396971-2.00003-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169291PMC
February 2014

Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.

Transl Neurodegener 2014 Feb 5;3(1). Epub 2014 Feb 5.

Department of Neurology, University of California, 1550 Fourth street, UCSF-Mission Bay, Rock Hall 548, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1186/2047-9158-3-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937061PMC
February 2014

Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C.

Proc Natl Acad Sci U S A 2013 Nov 4;110(47):19101-6. Epub 2013 Nov 4.

Department of Neurology and Howard Hughes Medical Institute, University of California, San Francisco, CA 94158.

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http://dx.doi.org/10.1073/pnas.1318501110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839775PMC
November 2013

Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function.

Curr Opin Neurobiol 2013 Oct 20;23(5):873-9. Epub 2013 May 20.

Department of Anesthesia, University of California San Francisco, San Francisco, CA 94143, United States.

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http://dx.doi.org/10.1016/j.conb.2013.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766463PMC
October 2013

MicroRNA-23a promotes myelination in the central nervous system.

Proc Natl Acad Sci U S A 2013 Oct 7;110(43):17468-73. Epub 2013 Oct 7.

Department of Neurology and Howard Hughes Medical Institute, University of California, San Francisco, CA 94158.

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http://dx.doi.org/10.1073/pnas.1317182110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808585PMC
October 2013

Episodic neurologic disorders: syndromes, genes, and mechanisms.

Annu Rev Neurosci 2013 Jul 29;36:25-50. Epub 2013 Apr 29.

Department of Neurology, Howard Hughes Medical Institute, School of Medicine, University of California-San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1146/annurev-neuro-062012-170300DOI Listing
July 2013

Genetic basis of human circadian rhythm disorders.

Exp Neurol 2013 May 28;243:28-33. Epub 2012 Jul 28.

University of Utah, Department of Neurology, Salt Lake City, UT, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00144886120028
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http://dx.doi.org/10.1016/j.expneurol.2012.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514403PMC
May 2013

Dual roles of FBXL3 in the mammalian circadian feedback loops are important for period determination and robustness of the clock.

Proc Natl Acad Sci U S A 2013 Mar 5;110(12):4750-5. Epub 2013 Mar 5.

Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School of Nanjing University, Pukou District, Nanjing 210061, China.

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http://dx.doi.org/10.1073/pnas.1302560110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606995PMC
March 2013

Genetic insights on sleep schedules: this time, it's PERsonal.

Trends Genet 2012 Dec 28;28(12):598-605. Epub 2012 Aug 28.

Department of Neurology, University of California San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1016/j.tig.2012.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500418PMC
December 2012

PKCγ participates in food entrainment by regulating BMAL1.

Proc Natl Acad Sci U S A 2012 Dec 26;109(50):20679-84. Epub 2012 Nov 26.

Department of Neurology, University of California, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1073/pnas.1218699110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528600PMC
December 2012

An inwardly rectifying K+ channel is required for patterning.

Development 2012 Oct;139(19):3653-64

Department of Chemistry and Biochemistry, Brigham Young University, Provo, UT 84602, USA.

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http://dx.doi.org/10.1242/dev.078592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436115PMC
October 2012

Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock.

PLoS One 2012 27;7(2):e31987. Epub 2012 Feb 27.

Department of Neurology, University of California San Francisco, San Francisco, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0031987PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288064PMC
August 2012

The genetics of the human circadian clock.

Adv Genet 2011 ;74:231-47

Department of Neurology, University of California, San Francisco, USA.

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http://dx.doi.org/10.1016/B978-0-12-387690-4.00007-6DOI Listing
December 2011

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.

Hum Mol Genet 2011 Jun 12;20(12):2322-32. Epub 2011 Apr 12.

Department of Neurology, University of California at San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1093/hmg/ddr125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098736PMC
June 2011

Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.

J Biol Chem 2011 Mar 5;286(11):9526-41. Epub 2011 Jan 5.

Department of Molecular, Cellular, and Developmental Biology and the Neuroscience Research Institute, University of California, Santa Barbara, California 93106, USA.

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http://dx.doi.org/10.1074/jbc.M110.170597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059001PMC
March 2011

Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin.

J Neurosci 2011 Jan;31(4):1163-6

Department of Neurology, University of California, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.5994-10.2011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078713PMC
January 2011

Episodic neurological channelopathies.

Neuron 2010 Oct;68(2):282-92

Neuroscience Graduate Program, University of California-San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1016/j.neuron.2010.10.008DOI Listing
October 2010

COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.

Neurogenetics 2010 Feb 23;11(1):41-52. Epub 2009 Jun 23.

Department of Neurology, University of California San Francisco, 1550 Fourth Street, Rock Hall Rm548, San Francisco, CA, 94158, USA.

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http://dx.doi.org/10.1007/s10048-009-0201-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2807601PMC
February 2010

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Cell 2010 Jan;140(1):88-98

Neuroscience Graduate Program, University of California, San Francisco, San Francisco, CA, 94158, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.

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http://dx.doi.org/10.1016/j.cell.2009.12.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885139PMC
January 2010

Dicer ablation in oligodendrocytes provokes neuronal impairment in mice.

Ann Neurol 2009 Dec;66(6):843-57

Department of Neurology, University of California San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1002/ana.21927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885004PMC
December 2009

In memoriam: Louis John Ptácek, Sr, MD (1929-2006).

Authors:
Louis J Ptácek

J Child Neurol 2009 Apr;24(4):519-20

Department of Neurology, Howard Hughes Medical Institute, University of California San Francisco, San Francisco, California, USA

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http://dx.doi.org/10.1177/0883073809332402DOI Listing
April 2009

Genetic approaches to human behavior.

Methods Enzymol 2005 ;393:239-50

Department of Neurology, Howard Hughes, Medical Institute, University of California, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1016/S0076-6879(05)93009-7DOI Listing
November 2008

Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome.

J Cardiovasc Electrophysiol 2008 Jan 27;19(1):95-7. Epub 2007 Jul 27.

Department of Cardiology, School of Medical Sciences, National University of Rosario, Argentina.

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http://doi.wiley.com/10.1111/j.1540-8167.2007.00910.x
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http://dx.doi.org/10.1111/j.1540-8167.2007.00910.xDOI Listing
January 2008

Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection?

Eur J Hum Genet 2007 Oct 13;15(10):1071-8. Epub 2007 Jun 13.

Department of Neurology, Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201876DOI Listing
October 2007

Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders.

Neurogenetics 2007 Aug 27;8(3):159-68. Epub 2007 Feb 27.

Laboratories of Neurogenetics, Department of Neurology, Institute of Human Genetics, University of California San Francisco, San Francisco, CA 94158-2922, USA.

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http://dx.doi.org/10.1007/s10048-007-0082-4DOI Listing
August 2007

Human recombination rates are increased around accelerated conserved regions--evidence for continued selection?

Bioinformatics 2007 Jun 26;23(12):1441-3. Epub 2007 Apr 26.

University of California San Francisco, Department of Neurology, Institute of Human Genetics, San Francisco, CA 94158-2922, USA.

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http://dx.doi.org/10.1093/bioinformatics/btm137DOI Listing
June 2007

Modeling of IK1 mutations in human left ventricular myocytes and tissue.

Am J Physiol Heart Circ Physiol 2007 Jan 25;292(1):H549-59. Epub 2006 Aug 25.

Nora Eccles Harrison Cardiovascular Research and Training Institute, Univ. of Utah, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1152/ajpheart.00701.2006DOI Listing
January 2007

Lamin B1 duplications cause autosomal dominant leukodystrophy.

Nat Genet 2006 Oct 3;38(10):1114-23. Epub 2006 Sep 3.

Department of Neurology, University of California, San Francisco, San Francisco, California 94158, USA.

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http://dx.doi.org/10.1038/ng1872DOI Listing
October 2006

Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.

Mov Disord 2005 Nov;20(11):1405-12

Department of Neurology, University of Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1002/mds.20533DOI Listing
November 2005

Auditory deficits associated with the frings mgr1 (mass1) mutation in mice.

Dev Neurosci 2005 ;27(5):321-32

Department of Pharmacology and Toxicology, Howard Hughes Medical Institute, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1159/000086712DOI Listing
October 2005

Clinic-based study of family history of vascular risk factors and migraine.

J Headache Pain 2005 Oct 21;6(5):412-6. Epub 2005 Sep 21.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143-2922, USA.

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http://dx.doi.org/10.1007/s10194-005-0239-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3452064PMC
October 2005

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.

Nature 2005 Mar;434(7033):640-4

Department of Neurology, University of California, San Francisco, San Francisco, California 94143-2922, USA.

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http://dx.doi.org/10.1038/nature03453DOI Listing
March 2005

Familial adult myoclonic epilepsy (FAME).

Adv Neurol 2005 ;95:281-8

Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan.

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December 2004

c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse.

Epilepsy Res 2004 Nov;62(1):13-25

Department of Pharmacology and Toxicology, 20 S 2030 E Rm 408, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1016/j.eplepsyres.2004.06.007DOI Listing
November 2004

Channels and disease: past, present, and future.

Arch Neurol 2004 Nov;61(11):1665-8

Howard Hughes Medical Institute, University of California, San Francisco, USA.

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http://dx.doi.org/10.1001/archneur.61.11.1665DOI Listing
November 2004

Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.

Ann Med 2004 ;36 Suppl 1:92-7

Department of Human Molecular Biology and Genetics, University of Utah, Salt Lake City, USA.

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http://dx.doi.org/10.1080/17431380410032490DOI Listing
October 2004

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

J Biol Chem 2003 Dec 1;278(51):51779-85. Epub 2003 Oct 1.

Department of Human Molecular Biology and Genetics, University of Utah, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1074/jbc.M310278200DOI Listing
December 2003

What's new in epilepsy genetics?

Mol Psychiatry 2003 May;8(5):463-5

Departments of Neurology and Human Genetics, Howard Hughes Medical Institute, University of Utah, UT 84112, USA.

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http://dx.doi.org/10.1038/sj.mp.4001292DOI Listing
May 2003

A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

Arch Neurol 2003 Jan;60(1):97-103

Department of Human Genetics, University of Utah, Salt Lake City, USA.

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http://dx.doi.org/10.1001/archneur.60.1.97DOI Listing
January 2003

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.

Ann Neurol 2002 Nov;52(5):654-7

Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki 305-8575, Japan.

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http://dx.doi.org/10.1002/ana.10347DOI Listing
November 2002

Channel surfing.

Authors:
Louis J Ptácek

J Clin Endocrinol Metab 2002 Nov;87(11):4879-80

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http://dx.doi.org/10.1210/jc.2002-021458DOI Listing
November 2002

Molecular biology of episodic movement disorders.

Adv Neurol 2002 ;89:453-8

Departments of Neurology and Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, Utah, USA.

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October 2002

Periodic paralyses and nondystrophic myotonias.

Adv Neurol 2002 ;88:235-52

Department of Neurology, University of Utah, Salt Lake City, Utah 84132, USA.

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September 2002

Episodic movement disorders as channelopathies.

Mov Disord 2000 May;15(3):429-433

Howard Hughes Medical Institute, Departments of Neurology and Human Genetics, University of Utah, Salt Lake City, Utah, U.S.A.

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http://dx.doi.org/10.1002/1531-8257(200005)15:3<429::AID-MDS1001>3.0.CO;2-RDOI Listing
May 2000