Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Jones, Simon A., Valayannopoulos, Vassili, Schneider, Eugene, Eckert, Stephen, Banikazemi, Maryam, Bialer, Martin, Cederbaum, Stephen, Chan, Alicia, Dhawan, Anil, Di Rocco, Maja, Domm, Jennifer, Enns, Gregory M., Finegold, David, Gargus, J. Jay, Guardamagna, Ornella, Hendriksz, Christian, Mahmoud, Iman G., Raiman, Julian, Selim, Laila A., Whitley, Chester B., Zaki, Osama, Quinn, Anthony G.
Published in Genetics in medicine (01.05.2016)
Published in Genetics in medicine (01.05.2016)
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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, Arnoux, Jean-Baptiste, Brassier, Anais, Le Quan Sang, Kim-Hanh, Valayannopoulos, Vassili
Published in Orphanet journal of rare diseases (08.02.2017)
Published in Orphanet journal of rare diseases (08.02.2017)
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Journal Article
Shared functional defect in IP₃R-mediated calcium signaling in diverse monogenic autism syndromes
Schmunk, G, Boubion, B J, Smith, I F, Parker, I, Gargus, J J
Published in Translational psychiatry (22.09.2015)
Published in Translational psychiatry (22.09.2015)
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Journal Article
Relative Carnitine Deficiency in Autism
Filipek, Pauline A, Juranek, Jenifer, Nguyen, Minh T, Cummings, Christa, Gargus, J. Jay
Published in Journal of autism and developmental disorders (01.12.2004)
Published in Journal of autism and developmental disorders (01.12.2004)
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Journal Article
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease
Bonesteele, Grant, Gargus, J. Jay, Curtin, Emily, Tang, Mabel, Rosenbloom, Barry, Kimonis, Virginia
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Journal Article
Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses
Liang, Bin, Moussaif, Mustapha, Kuan, Chih-Jen, Gargus, J. Jay, Sze, Ji Ying
Published in Cell metabolism (01.12.2006)
Published in Cell metabolism (01.12.2006)
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Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia
TOMITA, H, SHAKKOTTAI, V. G, GUTMAN, G. A, SUN, G, BUNNEY, W. E, CAHALAN, M. D, CHANDY, K. G, GARGUS, J. J
Published in Molecular psychiatry (01.05.2003)
Published in Molecular psychiatry (01.05.2003)
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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
NYHAN, William L, GARGUS, J. Jay, BOYLE, Karen, SELBY, Rick, KOCH, Richard
Published in European journal of pediatrics (01.07.2002)
Published in European journal of pediatrics (01.07.2002)
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Journal Article
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat : a candidate for schizophrenia and bipolar disorder?
CHANDY, K. G, FANTINO, E, MORRIS-ROSENDAHL, D. J, GARGUS, J. J, WITTEKINDT, O, KALMAN, K, TONG, L.-L, HO, T.-H, GUTMAN, G. A, CROCQ, M.-A, GANGULI, R, NIMGAONKAR, V
Published in Molecular psychiatry (1998)
Published in Molecular psychiatry (1998)
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Mitochondrial dysfunction in autistic patients with 15q inverted duplication
Filipek, Pauline A., Juranek, Jenifer, Smith, Moyra, Mays, Lee Z., Ramos, Erica R., Bocian, Maureen, Masser-Frye, Diane, Laulhere, Tracy M., Modahl, Charlotte, Spence, M. Anne, Gargus, J. Jay
Published in Annals of neurology (01.06.2003)
Published in Annals of neurology (01.06.2003)
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Journal Article
Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2
Shakkottai, V G, Regaya, I, Wulff, H, Fajloun, Z, Tomita, H, Fathallah, M, Cahalan, M D, Gargus, J J, Sabatier, J M, Chandy, K G
Published in The Journal of biological chemistry (16.11.2001)
Published in The Journal of biological chemistry (16.11.2001)
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