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JOHN JAY GARGUS, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1750461802Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
000000G76579(CA)
Research & Publications (20)
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.
PMID 19154521·Ann N Y Acad Sci·2009
6-review
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
PMID 18021921·Pediatr Neurol·2007
8-other
Ion channel functional candidate genes in multigenic neuropsychiatric disease.
PMID 16497276·Biol Psychiatry·2006
6-review
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
PMID 14707514·J Inherit Metab Dis·2003
5-case
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
PMID 12938016·J Hum Genet·2003
8-other
Unraveling monogenic channelopathies and their implications for complex polygenic disease.
PMID 12629596·Am J Hum Genet·2003
6-review
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
PMID 18078792·Mitochondrion·2008
5-case
Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses.
PMID 17141627·Cell Metab·2006
7-preclinical
[ATP1A2: a key player in familial hemiplegic migraine].
PMID 16597394·Med Sci (Paris)·2006
7-preclinical
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.
PMID 16037212·Proc Natl Acad Sci U S A·2005
7-preclinical
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2.
PMID 15308625·J Biol Chem·2004
7-preclinical
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.
PMID 15133718·Neurogenetics·2004
8-other
An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel.
PMID 14978258·Mol Pharmacol·2004
8-other
SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels.
PMID 14638680·J Biol Chem·2004
7-preclinical
Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia.
PMID 12808432·Mol Psychiatry·2003
7-preclinical
Mitochondrial dysfunction in autistic patients with 15q inverted duplication.
PMID 12783428·Ann Neurol·2003
5-case
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
PMID 12111189·Eur J Pediatr·2002
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- UCI MEDICAL CENTER, 101 THE CITY DRIVE SOUTH
ORANGE, CA 92868 - Phone
- (714) 456-8978
Quick Facts
- NPI
- 1750461802
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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