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List of works by Liana Veneziano

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

scientific article

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

scientific article

A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

scientific article

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

scientific article (publication date: July 2001)

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

scientific article

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

scientific article published on 9 January 2014

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

scientific article published on 10 May 2017

Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.

scientific article published in May 1997

Analyzing the Effects of a G137V Mutation in the FXN Gene

scientific article

Characterization of human frataxin missense variants in cancer tissues

scientific article published on 18 June 2019

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

scientific article

DNA markers in diagnosis of adult dominant polycystic kidney disease

scientific article published on 01 January 1992

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice

scientific article published on 26 March 2011

Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

scientific article published on 22 June 2007

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

scientific article

Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims.

scientific article published on 17 April 2009

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

scientific article published on 04 September 2007

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

scientific article

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions

scientific article published on September 1996

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

scientific article published on 02 February 2010

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Leukocyte telomere shortening in Huntington's disease

scientific article published on 28 October 2018

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

scientific article

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

scientific article

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia

scientific article

Ordering of 44 Genetic Markers in the 6p22 Cytogenetic Band

scientific article published on 01 January 1996

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

scientific article published on 21 October 2018

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

scientific article published on January 2003

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

scientific article published in March 1998