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Articles (91)
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Ion Channel Diseases: Episodic Disorders of the Nervous System

Ptáček, Louis

Journal:

Seminars in Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 855 KB

english, 1999

GENETICS OF EPILEPSY

Chyung, Abraham S. C., Ptáček, Louis J.

Journal:

CONTINUUM: Lifelong Learning in Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2005

DEC2 modulates orexin expression and regulates sleep

Hirano, Arisa, Hsu, Pei-Ken, Zhang, Luoying, Xing, Lijuan, McMahon, Thomas, Yamazaki, Maya, Ptáček, Louis J., Fu, Ying-Hui

Journal:

Proceedings of the National Academy of Sciences

Année:

2018

Langue:

english

Fichier:

PDF, 910 KB

english, 2018

Paramyotonia congenita: Abnormal short exercise test, and improvement after mexiletine therapy

Dr. Carlayne E. Jackson, Dr. Richard J. Barohn, Dr. Louis J. Ptacek

Journal:

Muscle & Nerve

Année:

1994

Langue:

english

Fichier:

PDF, 481 KB

english, 1994

Lamin B1 duplications cause autosomal dominant leukodystrophy

Padiath, Quasar S, Saigoh, Kazumasa, Schiffmann, Raphael, Asahara, Hideaki, Yamada, Takeshi, Koeppen, Anulf, Hogan, Kirk, Ptáček, Louis J, Fu, Ying-Hui

Journal:

Nature Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 592 KB

english, 2006

Respite care for families of children with severe handicaps: An evaluation study of parent satisfaction

Louis J. Ptacek, Paul A. Sommers, Jean Graves, Phillip Lukowicz, Elizabeth Keena, June Haglund, Gregory R. Nycz

Journal:

Journal of Community Psychology

Année:

1982

Langue:

english

Fichier:

PDF, 375 KB

english, 1982

Randomized trials of dichlorphenamide in the periodic paralyses

Rabi Tawil, Michael P. McDermott, Robert Brown Jr, Barbara C. Shapiro, Louis J. Ptacek, Philip G. McManis, Marinos C. Dalakas, Sidney A. Spector, Jerry R. Mendell, Angelika F. Hahn, Robert C. Griggs

Journal:

Annals of Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 163 KB

english, 2000

Episodic movement disorders as channelopathies

Kailash P. Bhatia, Robert C. Griggs, Louis J. Ptáček

Journal:

Movement Disorders

Année:

2000

Langue:

english

Fichier:

PDF, 56 KB

english, 2000

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura

Christian Netzer, Jan Freudenberg, Mohammad R. Toliat, Axel Heinze, Katja Heinze-Kuhn, Holger Thiele, Ingrid Goebel, Peter Nürnberg, Louis J. Ptáček, Hartmut Göbel, Unda Todt, Christian Kubisch

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 101 KB

english, 2008

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

Saïd Bendahhou, Theodore R. Cummins, Robert C. Griggs, Ying-Hui Fu, Louis J. Ptáček

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 243 KB

english, 2001

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Kathryn J. Swoboda, Emmanuel Kanavakis, Athina Xaidara, Justine E. Johnson, Mark F. Leppert, Mylynda B. Schlesinger-Massart, Louis J. Ptacek, Kenneth Silver, Sotiris Youroukos

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 171 KB

english, 2004

Reply

Louis Ptacek, Arnulf H. Koeppen, Ying-Hui Fu

Journal:

Annals of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 39 KB

english, 2006

Dicer ablation in oligodendrocytes provokes neuronal impairment in mice

Daesung Shin, Ji-Yeon Shin, Michael T. McManus, Louis J. Ptáček, Ying-Hui Fu

Journal:

Annals of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 7.80 MB

english, 2009

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

Dr. Louis J. Ptacek, Launce Gouw, Hubert Kwieciński, Philip McManis, Jerry R. Mendell, Richard J. Barohn, Aflfred L. George JR., Rebert L. Barchi, Margaret Robertson, Mark F. Leppert

Journal:

Annals of Neurology

Année:

1993

Langue:

english

Fichier:

PDF, 1.01 MB

english, 1993

Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

Dr. Rabi Tawil, Louis J. Ptacek, Steven G. Pavlakis, Darryl C. DeVivo, Audrey S. Penn, Coskun Özdemir, Robert C. Griggs

Journal:

Annals of Neurology

Année:

1994

Langue:

english

Fichier:

PDF, 585 KB

english, 1994

Reply

Rabi Tawil, Louis J Ptacek, Steven G. Pavlakis, Darryl C. DeVivo, Audrey S. Penn, Coskun Öuzdemir, Robert C. Griggs

Journal:

Annals of Neurology

Année:

1994

Langue:

english

Fichier:

PDF, 129 KB

english, 1994

Localization of the giant axonal neuropathy gene to chromosome 16q24

Dr Kevin M. Flanigan, Thomas O. Crawford, John W. Griffin, Hans H. Goebel, Alfried Kohlschütter, Judith Ranells, Peter R. Camfield, Louis J. Ptáček

Journal:

Annals of Neurology

Année:

1998

Langue:

english

Fichier:

PDF, 516 KB

english, 1998

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Monica Ottenbacher, Marielle Sorlie, Tracey P. Leedom, Milena Cannella, Vittorio Maglione, Louis Ptacek, Eric W. Johnson, Douglas A. Marchuk

Journal:

Human Mutation

Année:

2006

Langue:

english

Fichier:

PDF, 109 KB

english, 2006

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease

Michiko K. Bruno, Bernard Ravina, Gaetan Garraux, Mark Hallett, Louis Ptacek, Amanda Singleton, Janel Johnson, Andrew Singleton, Melissa Hanson, Elaine Considine, Katrina Gwinn-Hardy

Journal:

Movement Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 542 KB

english, 2004

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

Matthias Maschke, Gary Oehlert, Ting-Dong Xie, Susan Perlman, Sub H. Subramony, Neeraj Kumar, Louis J. Ptacek, Christopher M. Gomez

Journal:

Movement Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 191 KB

english, 2005

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

Brian D. Klein, Ying-Hui Fu, Louis J. Ptacek, H. Steve White

Journal:

Epilepsy Research

Année:

2004

Langue:

english

Fichier:

PDF, 621 KB

english, 2004

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

Jan Freudenberg, Ying-Hui Fu, Louis J. Ptáček

Journal:

neurogenetics

Année:

2007

Langue:

english

Fichier:

PDF, 212 KB

english, 2007

COL25A1triggers and promotes Alzheimer’s disease-like pathology in vivo

Ying Tong, Ying Xu, Kimberly Scearce-Levie, Louis J. Ptáček, Ying-Hui Fu

Journal:

neurogenetics

Année:

2010

Langue:

english

Fichier:

PDF, 771 KB

english, 2010

Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients

David D. Einum, Jeannette J. Townsend, Louis J. Ptáček, Ying-Hui Fu

Journal:

neurogenetics

Année:

2001

Langue:

english

Fichier:

PDF, 237 KB

english, 2001

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans

Saïd Bendahhou, Theodore R. Cummins, Hubert Kwiecinski, Stephen G. Waxman, Louis J. Ptácek

Journal:

The Journal of Physiology

Année:

1999

Langue:

english

Fichier:

PDF, 338 KB

english, 1999

Channelopathies: Episodic Disorders of the Nervous System

Louis J. Ptacek, Ying-Hui Fu

Journal:

Epilepsia

Année:

2001

Langue:

english

Fichier:

PDF, 193 KB

english, 2001

Flecainide Suppresses Bidirectional Ventricular Tachycardia and Reverses Tachycardia-Induced Cardiomyopathy in Andersen-Tawil Syndrome

OSCAR A. PELLIZZÓN, LUIS KALAIZICH, LOUIS J. PTÁČEK, MARTIN TRISTANI-FIROUZI, MARIO D. GONZALEZ

Journal:

Journal of Cardiovascular Electrophysiology

Année:

2008

Langue:

english

Fichier:

PDF, 9.28 MB

english, 2008

Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

Xu, Ying, Padiath, Quasar S., Shapiro, Robert E., Jones, Christopher R., Wu, Susan C., Saigoh, Noriko, Saigoh, Kazumasa, Ptáček, Louis J., Fu, Ying-Hui

Journal:

Nature

Année:

2005

Langue:

english

Fichier:

PDF, 323 KB

english, 2005

Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Padiath, Quasar S, Saigoh, Kazumasa, Schiffmann, Raphael, Asahara, Hideaki, Yamada, Takeshi, Koeppen, Anulf, Hogan, Kirk, Ptáček, Louis J, Fu, Ying-Hui

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 78 KB

english, 2007

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Gouw, Launce G., Kaplan, Craig D., Haines, John H., Digre, Kathleen B., Rutledge, S. Lane, Matilla, Antoni, Leppert, Mark, Zoghbi, Huda Y., Ptácek, Louis J.

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 460 KB

1995

Ion channel Shake-down

Ptáček, Louis

Journal:

Nature Genetics

Année:

1994

Fichier:

PDF, 304 KB

1994

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

Slavotinek, Anne M, Moshrefi, Ali, Davis, Randy, Leeth, Elizabeth, Schaeffer, G Bradley, Burchard, González Esteban, Shaw, Gary M, James, Bristow, Ptacek, Louis, Pennacchio, Len A

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 173 KB

english, 2006

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

Freudenberg, Jan, Fu, Ying-Hui, Ptáček, Louis J

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 106 KB

english, 2007

What's new in epilepsy genetics?

Ptácek, Louis J, Fu, Ying-Hui

Journal:

Molecular Psychiatry

Année:

2003

Langue:

english

Fichier:

PDF, 62 KB

english, 2003

Genetic Mapping of a Locus (mass1) Causing Audiogenic Seizures in Mice

Shana L. Skradski, H.Steve White, Louis J. Ptáček

Journal:

Genomics

Année:

1998

Langue:

english

Fichier:

PDF, 102 KB

english, 1998

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Simeon A Boyadjiev, Ethylin Wang Jabs, Michele LaBuda, Joseph E Jamal, Torberg Torbergsen, Louis J Ptáček II, R.Curtis Rogers, Rolf Nyberg-Hansen, Stein Opjordsmoen, Cynthia B Zeller, O.Colin Stine, H

Journal:

Genomics

Année:

1999

Langue:

english

Fichier:

PDF, 116 KB

english, 1999

S-6-4 Myotonia and periodic paralysis: implications of molecular defects for treatment

Robert Griggs, Rabi Tawil, Robert Brown, Marinos Dalakas, Angelika Hahn, Philip McManis, Jerry Mendell, Louis Ptáček, Barbara E. Shapiro, Sidney Spector, Michael McDermott

Journal:

Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control

Année:

1995

Langue:

english

Fichier:

PDF, 126 KB

english, 1995

S-6-2 Molecular basis of the periodic paralyses

Louis J. Ptáček

Journal:

Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control

Année:

1995

Langue:

english

Fichier:

PDF, 127 KB

english, 1995

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies

Giovanni Meola, Valeria Sansone, Stefania Radice, Shana Skradski, Louis Ptacek

Journal:

Neuromuscular Disorders

Année:

1996

Langue:

english

Fichier:

PDF, 704 KB

english, 1996

Episodic Neurological Channelopathies

Devon P. Ryan, Louis J. Ptáček

Journal:

Neuron

Année:

2010

Langue:

english

Fichier:

PDF, 607 KB

english, 2010

The familial periodic paralyses and nondystrophic myotonias

Louis Ptáček

Journal:

The American Journal of Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 531 KB

english, 1998

MiRP2 Forms Potassium Channels in Skeletal Muscle with Kv3.4 and Is Associated with Periodic Paralysis

Geoffrey W Abbott, Margaret H Butler, Saïd Bendahhou, Marinos C Dalakas, Louis J Ptacek, Steve A.N Goldstein

Journal:

Cell

Année:

2001

Langue:

english

Fichier:

PDF, 481 KB

english, 2001

Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12

Jaana Tammur, Catherine Prades, Isabelle Arnould, Andrey Rzhetsky, Amy Hutchinson, Masashi Adachi, John D. Schuetz, Kathryn J. Swoboda, Louis J. Ptácek, Marie Rosier, Michael Dean, Rando Allikmets

Journal:

Gene

Année:

2001

Langue:

english

Fichier:

PDF, 632 KB

english, 2001

A Novel Gene Causing a Mendelian Audiogenic Mouse Epilepsy

Shana L. Skradski, Anna M. Clark, Hiamio Jiang, H.Steve White, Ying-Hui Fu, Louis J. Ptáček

Journal:

Neuron

Année:

2001

Langue:

english

Fichier:

PDF, 372 KB

english, 2001

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system

Louis J Ptáček

Journal:

Neuromuscular Disorders

Année:

1997

Langue:

english

Fichier:

PDF, 66 KB

english, 1997

Correspondence

Stepthen G. Waxman, Louis J. Ptacek

Journal:

Medical Hypotheses

Année:

2000

Langue:

english

Fichier:

PDF, 82 KB

english, 2000

Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations

Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis Ptacek, Eric W. Johnson, Douglas A. Marchuk

Journal:

The American Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 864 KB

english, 2007

The Cornelia de Lange syndrome

Louis J. Ptacek, John M. Opitz, David W. Smith, Theo Gerritsen, Harry A. Waisman

Journal:

The Journal of Pediatrics

Année:

1963

Langue:

english

Fichier:

PDF, 11.32 MB

english, 1963

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

Louis J. Ptáček, Alfred L. George Jr., Robert C. Griggs, Rabi Tawil, Roland G. Kallen, Robert L. Barchi, Margaret Robertson, Mark F. Leppert

Journal:

Cell

Année:

1991

Langue:

english

Fichier:

PDF, 2.09 MB

english, 1991

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Louis J. Ptáček, Rabi Tawil, Robert C. Griggs, Andrew G. Engel, Robert B. Layzer, Hubert Kwieciński, Philip G. McManis, Lorna Santiago, Mary Moore, Gameil Fouad, Paige Bradley, Mark F. Leppert

Journal:

Cell

Année:

1994

Langue:

english

Fichier:

PDF, 1.23 MB

english, 1994