Search filters

List of works by Donatella Civitelli

A hypofibrinolytic state in overweight patients with cerebral venous thrombosis and isolated intracranial hypertension

scientific article published on 01 November 1999

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

scientific article published in March 2004

Alpha-synuclein promoter haplotypes and dementia in Parkinson's Disease

scientific article published on 01 April 2008

Association of tau gene polymorphism with Parkinson's disease.

scientific article published in October 2003

Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson’s disease in Southern Italy

article

Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene.

scientific article published in December 2004

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

scientific article published in March 2006

Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism

article

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

scientific article published in November 2005

DJ-1is a Parkinson's disease susceptibility gene in southern Italy

article

Dopamine D2 receptor gene polymorphism and the risk of levodopa-induced dyskinesias in PD

scientific article

FRAXE intermediate alleles are associated with Parkinson's disease.

scientific article published in September 2004

Gene dosage influences the age at onset of SCA2 in a family from southern Italy

scientific article published on 3 August 2007

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

scientific article published in February 2006

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily

scientific article published on 01 May 1997

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

scientific article published in February 2008

LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson’s disease

article

Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease

article

Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD

scientific article published on 01 August 2001

Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.

scientific article published on 17 September 2011

NACP-REP1 polymorphism is not involved in Parkinson's disease: a case-control study in a population sample from southern Italy

article

Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease

scientific article published on 01 November 2007

Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease

Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease

Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease

scientific article published in November 2007

Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease

scientific article published in April 2010

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases

scientific article published on 01 March 2007

Startle epilepsy complicating aspartylglucosaminuria.

scientific article published in March 2004

The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

scientific article published on 01 January 2000

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

scientific article (publication date: September 2003)

[Electrophysiological evidence of a nucleus accumbens/entopeduncular nucleus inhibitory pathway]

scientific article published on 01 March 1983