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

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

2004

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Dysregulation of Neurogenic Calcium Signaling and Autism

Comprehensive Guide to Autism, 2014, p.1285-1312

2014

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CCG1 /TAF II 250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13

Journal of cellular physiology, 1998-09, Vol.176 (3), p.642-647

1998

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

Journal of cellular physiology, 1998-09, Vol.176 (3), p.642-647

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.39 (4), p.C1145-C1152

1996

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Chapter 1 Molecular Biology of Membrane Transport Proteins

Current Topics in Membranes, 1991, Vol.39, p.3-36

1991

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Why Migraines Strike: Biologists finally are unraveling the medical mysteries of migraine, from aura to pain

Scientific American, 2008-08, Vol.299 (2), p.None

2008

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

American journal of medical genetics, 1984-04, Vol.17 (4), p.835-839

1984

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

Biophysical journal, 2015-01, Vol.108 (2), p.105a-105a

2015

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Channelopathy pathogenesis in autism spectrum disorders

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

ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale

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

Mitochondrial Energy-Deficient Endophenotype in Autism

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

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

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

Dysregulation of Neurogenic Calcium Signaling and Autism

CCG1 /TAF II 250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13

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

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

Chapter 1 Molecular Biology of Membrane Transport Proteins

Why Migraines Strike: Biologists finally are unraveling the medical mysteries of migraine, from aura to pain

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

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

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