List of works - Giorgio Casari

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis

scientific article

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

scientific article published in October 2000

A novel truncated form of eNOS associates with altered vascular function

scientific article published on 03 December 2013

SNP prioritization using a Bayesian probability of association

scientific article published on 26 December 2012

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

scientific article published on 01 October 1998

Genetics in restless legs syndrome

scientific article published on May 2004

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

scientific article published on 29 October 2019

AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.

scientific article

Glucocorticoid receptor polymorphism in genetic hypertension.

scientific article

Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate

scientific article

The genetic and molecular basis of epilepsy

scientific article

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

article

AntiHunter: searching BLAST output for EST antisense transcripts

scientific article published on 22 January 2004

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics.

scientific article published on 15 March 2018

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

article

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

scientific article published in April 2001

Genetic heterogeneity in Malattia Leventinese

scientific article published on 01 November 2002

Genetic analysis of the SA and Na+/K+-ATPase alpha1 genes in the Milan hypertensive rat

scientific article published on 01 February 1998

Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation

scientific article published on 10 August 2007

ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease

scientific article published on 25 March 2009

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

scientific article published on 01 November 2005

List of works by Giorgio Casari

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

A novel truncated form of eNOS associates with altered vascular function

SNP prioritization using a Bayesian probability of association

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

Genetics in restless legs syndrome

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

AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts.

Glucocorticoid receptor polymorphism in genetic hypertension.

Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate

The genetic and molecular basis of epilepsy

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

AntiHunter: searching BLAST output for EST antisense transcripts

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics.

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

Genetic heterogeneity in Malattia Leventinese

Genetic analysis of the SA and Na+/K+-ATPase alpha1 genes in the Milan hypertensive rat

Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation

ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures