List of works - Giorgio Casari

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

scientific article

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

scientific article

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

scientific article

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

scientific article

In search of antisense

scientific article

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

scientific article

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

article

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

scientific article published on 13 November 2006

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

scientific article published on 23 June 2011

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

scientific article

Autosomal dominant restless legs syndrome maps on chromosome 14q.

scientific article

Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome

scientific article

Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster

scientific article published on 21 December 2006

Uromodulin storage diseases: clinical aspects and mechanisms

scientific article

Defective intracellular trafficking of uromodulin mutant isoforms

scientific article published on 30 September 2006

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

scientific article

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

scientific article published in July 2009

The mitochondrial protease AFG3L2 is essential for axonal development

scientific article published in March 2008

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

scientific article

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

scientific article

A thiazide test for the diagnosis of renal tubular hypokalemic disorders

scientific article published on 14 March 2007

Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle Biogenesis

scientific article published on 30 January 2014

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

scientific article

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms

scientific article

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

scientific article published on 01 August 2004

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

scientific article published on 16 March 2009

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly

scientific article

Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer.

scientific article

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

scientific article published on 8 December 2014

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

scientific article published on 4 March 2013

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

scientific article

The functional properties of the human ether-à-go-go-like (HELK2) K+ channel

scientific article published in August 2002

Familial Hemiplegic Migraine Type 2 does not Share Hypersensitivity to Nitric Oxide with Common Types of Migraine

scientific article published on 22 February 2008

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

scientific article published on 01 March 2003

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

scientific article

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

scientific article

Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)

scientific article

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

scientific article

Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma

scientific article

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

scientific article

Further evidence of genetic heterogeneity in familial essential tremor

scientific article published on 20 August 2007

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

scientific article published on February 2013

Multi-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy

scientific article published on 24 July 2014

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

scholarly article by Florian D. Vogl et al published 2006 in Movement Disorders

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

scientific article published on 30 January 2008

Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes

scientific journal article

List of works by Giorgio Casari

Guidelines for the use and interpretation of assays for monitoring autophagy

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

In search of antisense

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

Autosomal dominant restless legs syndrome maps on chromosome 14q.

Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome

Noncoding RNA synthesis and loss of Polycomb group repression accompanies the colinear activation of the human HOXA cluster

Uromodulin storage diseases: clinical aspects and mechanisms

Defective intracellular trafficking of uromodulin mutant isoforms

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

The mitochondrial protease AFG3L2 is essential for axonal development

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

A thiazide test for the diagnosis of renal tubular hypokalemic disorders

Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle Biogenesis

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly

Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer.

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

The functional properties of the human ether-à-go-go-like (HELK2) K+ channel

Familial Hemiplegic Migraine Type 2 does not Share Hypersensitivity to Nitric Oxide with Common Types of Migraine

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

Further evidence of genetic heterogeneity in familial essential tremor

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

Multi-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes