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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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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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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 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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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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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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Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport

Journal of the American Society of Nephrology, 1992-06, Vol.2 (12), p.1689-1696

1992

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Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts

Human molecular genetics, 1997-05, Vol.6 (5), p.681-688

1997

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Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

American journal of medical genetics, 1999-08, Vol.88 (4), p.348-351

1999

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Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia

Genomics (San Diego, Calif.), 1998-07, Vol.51 (1), p.160-161

1998

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Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia

Biochemical and biophysical research communications, 1998-10, Vol.251 (2), p.662-665

1998

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Calcium is permeable through a maitotoxin-activated nonselective cation channel in mouse L cells

American Journal of Physiology: Cell Physiology, 1996-04, Vol.270 (4), p.C1145-C1152

1996

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Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice

The Journal of clinical investigation, 1996-06, Vol.97 (11), p.2426-2432

1996

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

Molecular medicine today (Regul. ed.), 1998-12, Vol.4 (12), p.518-524

1998

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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

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

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 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

ATP1A2: a key player in familial hemiplegic migraine

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

Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport

Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia

Transmission disequilibrium analysis of a triplet repeat within the hKCa3 gene using family trios with schizophrenia

Calcium is permeable through a maitotoxin-activated nonselective cation channel in mouse L cells

Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice

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

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