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FRANCA CAMBI MD, PHD
MD, PHD
Neurology Physician
NPI: 1255436317Individual
Specialties, Licenses & Credentials
Neurology PhysicianPrimary
Psychiatry & Neurology — Neurology
Code: 2084N0400X
TP982(KY)
Research & Publications (20)
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.
PMID 17235449·J Hum Genet·2007
8-other
Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs.
PMID 19244236·J Biol Chem·2009
8-other
Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability.
PMID 18835559·Exp Neurol·2008
7-preclinical
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
PMID 18986508·BMC Med·2008
4-observational
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
PMID 18509094·Neurology·2008
4-observational
Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
PMID 18587682·Hum Genet·2008
4-observational
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
PMID 18649400·Mov Disord·2008
4-observational
PLP/DM20 ratio is regulated by hnRNPH and F and a novel G-rich enhancer in oligodendrocytes.
PMID 17567613·Nucleic Acids Res·2007
8-other
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
PMID 16287154·Hum Mutat·2006
7-preclinical
PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.
PMID 16288477·J Cell Biochem·2006
7-preclinical
Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
PMID 17030746·Neurology·2006
5-case
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.
PMID 17190945·Neurology·2006
8-other
Rett syndrome: the complex nature of a monogenic disease.
PMID 12750821·J Mol Med (Berl)·2003
6-review
Down-regulation of the retinoblastoma protein (rb) is associated with rat oligodendrocyte differentiation.
PMID 11860277·Mol Cell Neurosci·2002
7-preclinical
Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
PMID 12210342·Am J Med Genet·2002
8-other
A PLP splicing abnormality is associated with an unusual presentation of PMD.
PMID 12325077·Ann Neurol·2002
7-preclinical
Differentiation of glial cells and motor neurons during the formation of neuromuscular junctions in cocultures of rat spinal cord explant and human muscle.
PMID 11536191·J Comp Neurol·2001
7-preclinical
Evidence for neuroaxonal injury in patients with proteolipid gene mutations.
PMID 11723304·Neurology·2001
8-other
Gtx, an oligodendrocyte-specific homeodomain protein, has repressor activity.
PMID 10931524·J Neurosci Res·2000
7-preclinical
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
PMID 11087788·Neurology·2000
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 740 S LIMESTONE
LEXINGTON, KY 40536 - Phone
- (859) 323-5661
Quick Facts
- NPI
- 1255436317
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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