MOLECULAR BASES OF DOMINANT CEREBELLAR ATAXIAS: REFINED MAPPING AND IDENTIFICATION OF EPISODIC ATAXIA 2 GENE AND STUDY OF ITS RELATIONSHIP WITH FAMILIAL HEMIPLEGIC MIGRAINE AND CADASIL GENES

Pubblicazioni Scientifiche

• 1998 GENE

  Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2 distal 19p13.1

• 1997 BRAIN

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

• 1999 PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES

  CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

• 1997 HUMAN MOLECULAR GENETICS

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

• 1996 ANNALS OF HUMAN GENETICS

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

• 1998 BRAIN

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