Franco Ajmar
Overview
Explore the profile of Franco Ajmar including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
8
Citations
71
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Sessa A, Battini G, Meroni M, Pitingolo F, Righetti M, Ciotti P, et al.
J Nephrol
. 2005 Jun;
18(2):209-12.
PMID: 15931650
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder characterized by multifocal and bilateral renal cell carcinoma and cysts, retinal angiomas, hemangioblastoma of the central nervous system, pheochromocytoma, epididymis...
2.
Ciotti P, Di Maria E, Bellone E, Ajmar F, Mandich P
J Mol Diagn
. 2004 Oct;
6(4):285-9.
PMID: 15507666
Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is associated with an unstable expansion of a GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13....
3.
Abbruzzese G, Pigullo S, Schenone A, Bellone E, Marchese R, Di Maria E, et al.
Mov Disord
. 2004 Aug;
19(8):978-81.
PMID: 15300670
Two genes were identified for autosomal recessive forms of early onset Parkinson's disease: parkin and DJ-1. We describe 2 siblings with EOPD due to parkin mutations and peripheral neuropathy, which...
4.
Pigullo S, De Luca A, Barone P, Marchese R, Bellone E, Colosimo A, et al.
Parkinsonism Relat Disord
. 2004 Jul;
10(6):357-62.
PMID: 15261877
Objectives: To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET). Background: Essential tremor, the most common movement disorder, has long been recognised as an...
5.
Di Maria E, Gulli R, Begni S, De Luca A, Bignotti S, Pasini A, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2004 Jun;
128B(1):27-9.
PMID: 15211626
A well established model for the pathophysiology of schizophrenia postulates a role for the NMDA-mediated glutamate transmission. The human gene coding for the 2B subunit of the NMDA receptor (GRIN2B)...
6.
Pigullo S, Di Maria E, Marchese R, Bellone E, Gulli R, Scaglione C, et al.
Mov Disord
. 2003 Jun;
18(7):823-6.
PMID: 12815663
A specific allele of the NACP-Rep1 polymorphism within the alpha-synuclein promoter was found to be associated both with Parkinson's disease and essential tremor. We repeated the association study on a...
7.
Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, et al.
Hum Mutat
. 2002 Jul;
20(1):74-5.
PMID: 12112660
The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have...
8.
Bellone E, Rodolico C, Toscano A, Di Maria E, Cassandrini D, Pizzuti A, et al.
Neuromuscul Disord
. 2002 Jan;
12(3):286-91.
PMID: 11801401
Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary motor and sensory neuropathy type IIB, also referred as Charcot-Marie-Tooth disease type 2B....