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RICHARD HIRSCHHORN, M.D.
M.D.
Urology Physician
NPI: 1932464203Individual
Specialties, Licenses & Credentials
Research & Publications (13)
ATF3 plays a protective role against toxicity by N-terminal fragment of mutant huntingtin in stable PC12 cell line.
PMID 19559011·Brain Res·2009
7-preclinical
Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells.
PMID 19204007·J Biol Chem·2009
7-preclinical
N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease.
PMID 18156806·Cell Cycle·2007
7-preclinical
Huntingtin phosphorylation sites mapped by mass spectrometry. Modulation of cleavage and toxicity.
PMID 16782707·J Biol Chem·2006
7-preclinical
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.
PMID 12483996·Clin Immunol·2002
5-case
Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.
PMID 12370436·Proc Natl Acad Sci U S A·2002
8-other
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
PMID 11854868·Am J Hum Genet·2002
8-other
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
PMID 11738358·Neuromuscul Disord·2002
5-case
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency.
PMID 11489998·J Immunol·2001
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
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Contact & Hours
- Address
- 7491 N CATALINA RIDGE DR
TUCSON, AZ 85718 - Phone
- (520) 577-0842
Quick Facts
- NPI
- 1932464203
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 13
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