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1

Ion Channel Diseases: Episodic Disorders of the Nervous System

Ptáček, Louis

Journal:

Seminars in Neurology

Year:

1999

Language:

english

File:

PDF, 855 KB

english, 1999

2

GENETICS OF EPILEPSY

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

Journal:

CONTINUUM: Lifelong Learning in Neurology

Year:

2005

Language:

english

File:

PDF, 1.78 MB

english, 2005

3

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

Year:

2018

Language:

english

File:

PDF, 910 KB

english, 2018

4

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

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

Journal:

Year:

1994

Language:

english

File:

PDF, 481 KB

english, 1994

5

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

Year:

2006

Language:

english

File:

PDF, 592 KB

english, 2006

6

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

Year:

1982

Language:

english

File:

PDF, 375 KB

english, 1982

7

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

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

8

Episodic movement disorders as channelopathies

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

Journal:

Movement Disorders

Year:

2000

Language:

english

File:

PDF, 56 KB

english, 2000

9

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

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

10

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

Year:

2001

Language:

english

File:

PDF, 243 KB

english, 2001

11

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

Year:

2004

Language:

english

File:

PDF, 171 KB

english, 2004

12

Reply

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

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 39 KB

english, 2006

13

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

Year:

2009

Language:

english

File:

PDF, 7.80 MB

english, 2009

14

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

Year:

1993

Language:

english

File:

PDF, 1.01 MB

english, 1993

15

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

Year:

1994

Language:

english

File:

PDF, 585 KB

english, 1994

16

Reply

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

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 129 KB

english, 1994

17

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

Year:

1998

Language:

english

File:

PDF, 516 KB

english, 1998

18

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:

Year:

2006

Language:

english

File:

PDF, 109 KB

english, 2006

19

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

Year:

2004

Language:

english

File:

PDF, 542 KB

english, 2004

20

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

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

21

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

Year:

2004

Language:

english

File:

PDF, 621 KB

english, 2004

22

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

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

Journal:

Year:

2007

Language:

english

File:

PDF, 212 KB

english, 2007

23

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 771 KB

english, 2010

24

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:

Year:

2001

Language:

english

File:

PDF, 237 KB

english, 2001

25

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

Year:

1999

Language:

english

File:

PDF, 338 KB

english, 1999

26

Channelopathies: Episodic Disorders of the Nervous System

Louis J. Ptacek, Ying-Hui Fu

Journal:

Year:

2001

Language:

english

File:

PDF, 193 KB

english, 2001

27

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

Year:

2008

Language:

english

File:

PDF, 9.28 MB

english, 2008

28

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:

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

29

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

Year:

2007

Language:

english

File:

PDF, 78 KB

english, 2007

30

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

Year:

1995

File:

PDF, 460 KB

1995

31

Ion channel Shake-down

Ptáček, Louis

Journal:

Nature Genetics

Year:

1994

File:

PDF, 304 KB

1994

32

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

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

33

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

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

34

What's new in epilepsy genetics?

Ptácek, Louis J, Fu, Ying-Hui

Journal:

Molecular Psychiatry

Year:

2003

Language:

english

File:

PDF, 62 KB

english, 2003

35

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

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

Journal:

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

36

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:

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

37

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

Year:

1995

Language:

english

File:

PDF, 126 KB

english, 1995

38

S-6-2 Molecular basis of the periodic paralyses

Louis J. Ptáček

Journal:

Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control

Year:

1995

Language:

english

File:

PDF, 127 KB

english, 1995

39

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

Year:

1996

Language:

english

File:

PDF, 704 KB

english, 1996

40

Episodic Neurological Channelopathies

Devon P. Ryan, Louis J. Ptáček

Journal:

Year:

2010

Language:

english

File:

PDF, 607 KB

english, 2010

41

The familial periodic paralyses and nondystrophic myotonias

Journal:

The American Journal of Medicine

Year:

1998

Language:

english

File:

PDF, 531 KB

english, 1998

42

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:

Year:

2001

Language:

english

File:

PDF, 481 KB

english, 2001

43

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:

Year:

2001

Language:

english

File:

PDF, 632 KB

english, 2001

44

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:

Year:

2001

Language:

english

File:

PDF, 372 KB

english, 2001

45

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

Louis J Ptáček

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 66 KB

english, 1997

46

Correspondence

Stepthen G. Waxman, Louis J. Ptacek

Journal:

Medical Hypotheses

Year:

2000

Language:

english

File:

PDF, 82 KB

english, 2000

47

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

Year:

2007

Language:

english

File:

PDF, 864 KB

english, 2007

48

The Cornelia de Lange syndrome

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

Journal:

The Journal of Pediatrics

Year:

1963

Language:

english

File:

PDF, 11.32 MB

english, 1963

49

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:

Year:

1991

Language:

english

File:

PDF, 2.09 MB

english, 1991

50

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:

Year:

1994

Language:

english

File:

PDF, 1.23 MB

english, 1994

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