Back to Search
REGINA FRANTS, MD
MD
Pulmonary Disease Physician
NPI: 1891780979IndividualAccepts Medicare
Specialties, Licenses & Credentials
Pulmonary Disease PhysicianPrimary
Internal Medicine — Pulmonary Disease
Code: 207RP1001X
2232551(NY)
Education
OTHER
Class of 1983
Research & Publications (20)
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
PMID 19520699·J Neurol Neurosurg Psychiatry·2009
5-case
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
PMID 19139306·Arch Neurol·2009
5-case
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
PMID 19220312·Cephalalgia·2009
7-preclinical
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
PMID 19593370·PLoS Genet·2009
7-preclinical
The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.
PMID 19034316·Eur J Hum Genet·2009
8-other
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
PMID 18400034·Clin Genet·2008
8-other
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
PMID 18723032·Mutat Res·2008
6-review
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study.
PMID 18550697·J Med Genet·2008
8-other
Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice.
PMID 18293354·Synapse·2008
7-preclinical
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
PMID 18028456·Clin Genet·2008
5-case
A high-density association screen of 155 ion transport genes for involvement with common migraine.
PMID 18676988·Hum Mol Genet·2008
8-other
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
PMID 18334579·Hum Mol Genet·2008
7-preclinical
A gene for a new monogenic neurovascular migraine syndrome: a next step in unravelling molecular pathways for migraine?
PMID 18399817·Cephalalgia·2008
8-other
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
PMID 18398432·Eur J Hum Genet·2008
8-other
Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.
PMID 18981015·Clin Cancer Res·2008
8-other
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.
PMID 18606230·Neurobiol Dis·2008
7-preclinical
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
PMID 18498393·Cephalalgia·2008
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
- 52 HARRISON ST, SOUTHERN TIER PULMONARY
JOHNSON CITY, NY 13790 - Phone
- (607) 729-8845
Quick Facts
- NPI
- 1891780979
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 1
- Locations
- 1
- Years in Practice
- 43
- Publications
- 20
Are you this provider?
Claim Your Profile