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Channelopathy pathogenesis in autism spectrum disorders

Frontiers in genetics, 2013-11, Vol.4, p.222-222

2013

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Genetics in medicine, 2016-05, Vol.18 (5), p.452-458

2016

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

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

2007

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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

European journal of pediatrics, 2002-07, Vol.161 (7), p.377-379

2002

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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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An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel

Molecular pharmacology, 2004-03, Vol.65 (3), p.788-801

2004

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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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SK3-1C, a Dominant-negative Suppressor of SKCa and IKCa Channels

The Journal of biological chemistry, 2004-02, Vol.279 (8), p.6893-6904

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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Mitochondrial Energy-Deficient Endophenotype in Autism

American journal of biochemistry and biotechnology, 2008-02, Vol.4 (2), p.198-207

2008

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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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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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Channelopathy pathogenesis in autism spectrum disorders

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

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

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

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

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

An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel

Relative Carnitine Deficiency in Autism

SK3-1C, a Dominant-negative Suppressor of SKCa and IKCa Channels

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

Mitochondrial Energy-Deficient Endophenotype in Autism

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

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

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