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

Cell reports (Cambridge), 2015-01, Vol.10 (3), p.346-358

2015

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Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100663-100663, Article 100663

2020

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Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease

Biological psychiatry (1969), 2006-07, Vol.60 (2), p.177-185

Gargus, J. Jay

2006

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ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale

M.S. Médecine sciences, 2006-04, Vol.22 (4), p.341-343

2006

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

Scientific reports, 2017-02, Vol.7 (1), p.40740-40740, Article 40740

2017

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

Orphanet journal of rare diseases, 2017-02, Vol.12 (1), p.25-25, Article 25

2017

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Relative Carnitine Deficiency in Autism

Journal of autism and developmental disorders, 2004-12, Vol.34 (6), p.615-623

2004

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

Journal of human genetics, 2003-08, Vol.48 (8), p.415-419

2003

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Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

American journal of human genetics, 2003-04, Vol.72 (4), p.785-803

Gargus, J. Jay

2003

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Alterations in the α2 Isoform of Na, K-ATPase Associated with Familial Hemiplegic Migraine Type 2

Proceedings of the National Academy of Sciences - PNAS, 2005-08, Vol.102 (31), p.11106-11111

2005

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Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Annals of neurology, 2003-06, Vol.53 (6), p.801-804

2003

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Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2

The Journal of biological chemistry, 2001-11, Vol.276 (46), p.43145-43151

2001

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Phenotype and genotype variation in primary carnitine deficiency

Genetics in medicine, 2001-11, Vol.3 (6), p.387-392

2001

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Nuclear Localization and Dominant-negative Suppression by a Mutant SKCa3 N-terminal Channel Fragment Identified in a Patient with Schizophrenia

The Journal of biological chemistry, 2001-07, Vol.276 (30), p.27753-27756

2001

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ATP1A2: a key player in familial hemiplegic migraine

M.S. Médecine sciences, 2006-04, Vol.22 (4), p.341-343

2006

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

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S63-S63

2016

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

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S48-S48

2017

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

The Journal of biological chemistry, 2004-10, Vol.279 (42), p.43692-43696

2004

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Novel mutation confirms seizure locus SCN1A is also FHM3 migraine locus

Pediatric neurology, 2007-12, Vol.37 (6), p.407-410

2007

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

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S59-S59

2015

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

Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.S29-S30

2012

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Functional genetics of migraine: analysis of sodium pump and P/Q channel homologs from C elegans

The FASEB journal, 2008-03, Vol.22 (S1)

2008

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

Molecular genetics and metabolism, 2009-02, Vol.96 (2), p.S24-S24

2009

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Monogenic migraine syndromes highlight novel drug targets

Drug development research, 2007-11, Vol.68 (7), p.432-440

2007

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Ethylmalonic/adipic aciduria : effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

Pediatric research, 1991-09, Vol.30 (3), p.216-221

1991

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

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease

ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale

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

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

Relative Carnitine Deficiency in Autism

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

Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

Alterations in the α2 Isoform of Na, K-ATPase Associated with Familial Hemiplegic Migraine Type 2

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2

Phenotype and genotype variation in primary carnitine deficiency

Nuclear Localization and Dominant-negative Suppression by a Mutant SKCa3 N-terminal Channel Fragment Identified in a Patient with Schizophrenia

ATP1A2: a key player in familial hemiplegic migraine

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

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

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

Novel mutation confirms seizure locus SCN1A is also FHM3 migraine locus

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

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

Functional genetics of migraine: analysis of sodium pump and P/Q channel homologs from C elegans

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

Monogenic migraine syndromes highlight novel drug targets

Ethylmalonic/adipic aciduria : effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

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