j.Jay Gargus: search on Z-Library

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1

Genetic Calcium Signaling Abnormalities in the Central Nervous System: Seizures, Migraine, and Autism

Journal:

Annals of the New York Academy of Sciences

Year:

2009

Language:

english

File:

PDF, 251 KB

english, 2009

2

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Pauline A. Filipek, Jenifer Juranek, Moyra Smith, Lee Z. Mays, Erica R. Ramos, Maureen Bocian, Diane Masser-Frye, Tracy M. Laulhere, Charlotte Modahl, M. Anne Spence, J. Jay Gargus

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 65 KB

english, 2003

3

Relative Carnitine Deficiency in Autism

Pauline A. Filipek, Jenifer Juranek, Minh T. Nguyen, Christa Cummings, J. Jay Gargus

Journal:

Journal of Autism and Developmental Disorders

Year:

2004

Language:

english

File:

PDF, 138 KB

english, 2004

4

Why Migraines Strike

Dodick, David W., Gargus, J. Jay

Journal:

Scientific American

Year:

2008

Language:

english

File:

PDF, 1.05 MB

english, 2008

5

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Jones, Simon A., Rojas-Caro, Sandra, Quinn, Anthony G., Friedman, Mark, Marulkar, Sachin, Ezgu, Fatih, Zaki, Osama, Gargus, J. Jay, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, A

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 913 KB

english, 2017

6

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

William L. Nyhan, Jay J. Gargus, Karen Boyle, Rick Selby, Richard Koch

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

7

Human Calcium-Activated Potassium Channel GeneKCNN4Maps to Chromosome 19q13.2 in the Region Deleted in Diamond–Blackfan Anemia

Sanjiv Ghanshani, Matt Coleman, Peter Gustavsson, Annabelle Chia-Ling Wu, j.Jay Gargus, George A. Gutman, Niklas Dahl, Harvey Mohrenweiser, K.George Chandy

Journal:

Year:

1998

Language:

english

File:

PDF, 57 KB

english, 1998

8

57. Initiating enzyme replacement therapy in young child diagnosed with Hunter syndrome shortly after approval of idursulfase

June-Anne Gold, Anirudh Saronwala, Maureen Bocian, J. Jay Gargus

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

9

Ethylmalonic/Adipic Aciduria: Effects of Oral Medium-Chain Triglycerides, Carnitine, and Glycine on Urinary Excretion of Organic Acids, Acylcarnitines, and Acylglycines

Rinaldo, Piero, Welch, Roy D, Previs, Stephen F, Schmidt-Sommerfeld, Eberhard, Gargus, J Jay, O'Shea, John J, Zinn, Arthur B

Journal:

Pediatric Research

Year:

1991

Language:

english

File:

PDF, 182 KB

english, 1991

10

A comparative study of patients’ perceptions of genetic and genomic medicine services in California and Malaysia

Qian, Emily, Thong, Meow-Keong, Flodman, Pamela, Gargus, Jay

Journal:

Journal of Community Genetics

Year:

2018

Language:

english

File:

PDF, 681 KB

english, 2018

11

Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease

Journal:

Biological Psychiatry

Year:

2006

Language:

english

File:

PDF, 322 KB

english, 2006

12

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data

Jones, Simon A., Brassier, Anais, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Breen, Catherine, Jay Gargus, J., Valayannopoulos, Vassili

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

13

Chemomechanical Coupling without ATP: The Source of Energy for Motility and Chemotaxis in Bacteria

Steven H. Larsen, Julius Adler, J. Jay Gargus and Robert W. Hogg

Journal:

Proceedings of the National Academy of Sciences

Year:

1974

Language:

english

File:

PDF, 1.05 MB

english, 1974

14

Channelopathy pathogenesis in autism spectrum disorders

Schmunk, Galina, Gargus, J. Jay

Journal:

Frontiers in Genetics

Year:

2013

Language:

english

File:

PDF, 840 KB

english, 2013

15

Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses

Bin Liang, Mustapha Moussaif, Chih-Jen Kuan, J. Jay Gargus, Ji Ying Sze

Journal:

Cell Metabolism

Year:

2006

Language:

english

File:

PDF, 832 KB

english, 2006

16

Kinetic Alterations due to a Missense Mutation in the Na,K-ATPase α2 Subunit Cause Familial Hemiplegic Migraine Type 2

Segall, Laura, Scanzano, Rosemarie, Kaunisto, Mari A., Wessman, Maija, Palotie, Aarno, Gargus, J. Jay, Blostein, Rhoda

Journal:

Journal of Biological Chemistry

Year:

2004

Language:

english

File:

PDF, 681 KB

english, 2004

17

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

Jones, Simon A., Plantaz, Dominique, Vara, Roshni, Eckert, Stephen, Le Quan Sang, Kim-Hanh, Brassier, Anaïs, Arnoux, Jean-Baptiste, Breen, Catherine, Jay Gargus, J., Quinn, Anthony G., Rojas-Caro, San

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 55 KB

english, 2015

18

CCG1/TAFII250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13

Gabriel A. Vargas, J. Mario Isas, Emanuelle Fantino, J. Jay Gargus, Harry T. Haigler

Journal:

Journal of Cellular Physiology

Year:

1998

Language:

english

File:

PDF, 153 KB

english, 1998

19

A piece in the puzzle: an ion channel candidate gene for schizophrenia

J.Jay Gargus, Emmanuelle Fantino, George A Gutman

Journal:

Molecular Medicine Today

Year:

1998

Language:

english

File:

PDF, 370 KB

english, 1998

20

Sudden-death of infant with lysosomal acid lipase deficiency successfully completing sebelipase alfa clinical trial

Gargus, John Jay, Kimonis, Virginia, Uy, Cherry, Jalili, Merhdad, Nguyen, Rachel, Reiter-Akhavan, Samantha, Wencel, Marie, Edwards, Robert A.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 45 KB

english, 2018

21

Reduced IP3-Mediated Ca2+ Signaling in Autism Spectrum Disorders in the Context of Fragile X and Tuberous Sclerosis Syndromes

Schmunk, Galina, Boubion, Bryan J., Smith, Ian F., Parker, Ian, Gargus, John Jay

Journal:

Biophysical Journal

Year:

2015

Language:

english

File:

PDF, 48 KB

english, 2015

22

Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways

Nguyen, Rachel L., Medvedeva, Yuliya V., Ayyagari, Tejasvi E., Schmunk, Galina, Gargus, John Jay

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2018

Language:

english

File:

PDF, 1.40 MB

english, 2018

23

Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 444 KB

english, 2003

24

Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3

J. Jay Gargus, Anne Tournay

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 71 KB

english, 2007

25

Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

Friedman, Mark, Jones, Simon A., Brassier, Anais, Hughes, Joanne, Plantaz, Dominique, Vara, Roshni, Breen, Catherine, Gargus, J. Jay, Marulkar, Sachin, Valayannopoulos, Vassili

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

26

Monogenic migraine syndromes highlight novel drug targets

J. Jay Gargus, Cindy H. Shih

Journal:

Drug Development Research

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

27

Highly Discordant Phenotype in Siblings with Wolman Syndrome and Absent LAL Enzyme Activity

J. Jay Gargus, Kim Verrell, Marie Wencel, Maureen Bocian, Virginia Kimonis

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 73 KB

english, 2012

28

ATP1A2 : Un facteur essentiel dans la migraine hémiplégique familiale

Blostein, Rhoda, Segall, Laura, Jay Gargus, J.

Journal:

médecine/sciences

Year:

2006

Language:

french

File:

PDF, 217 KB

french, 2006

29

Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone

Guifeng Sun, J. Jay Gargus, Dennis T. Ta, Larry E. Vickery

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 480 KB

english, 2003

30

Transmission Disequilibrium Analysis of a Triplet Repeat within thehKCa3Gene Using Family Trios with Schizophrenia

Tao Li, Xun Hu, K.George Chandy, Emmanuelle Fantino, Katalin Kalman, George Gutman, J.Jay Gargus, Bernard Freeman, Robin M. Murray, Elisabeth Dawson, Xiehe Liu, Anne T. Bruinvels, Pak C. Sham, David A

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

31

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder

Schmunk, Galina, Nguyen, Rachel L., Ferguson, David L., Kumar, Kenny, Parker, Ian, Gargus, J. Jay

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 700 KB

english, 2017

32

Chromosome deletion 1q42-43

Michael S. Watson, Dr. J. Jay Gargus, Karin J. Blakemore, Sanford N. Katz, Dr. W. Roy Breg

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 302 KB

english, 1986

33

Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development

Chen, Xiaoning, Ye, Ran, Gargus, J. Jay, Blakely, Randy D., Dobrenis, Kostantin, Sze, Ji Ying

Journal:

Year:

2015

Language:

english

File:

PDF, 5.07 MB

english, 2015

34

Activation of Single-Channel Currents in Mouse Fibroblasts by Platelet-Derived Growth Factor

A. Michael Frace and J. Jay Gargus

Journal:

Proceedings of the National Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 795 KB

english, 1989

35

Phenotype and genotype variation in primary carnitine deficiency

Wang, Yuhuan, Korman, Stanley H, Ye, Jing, Gargus, J Jay, Gutman, Alisa, Taroni, Franco, Garavaglia, Barbara, Longo, Nicola

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 962 KB

english, 2001

36

Lethal multiple pterygium syndrome in an 18-week fetus with hydrops

Glenn Isaacson, J. Jay Gargus, Dr. Maurice J. Mahoney, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 268 KB

english, 1984

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