Lista de obras - Giorgio Casari - Dominio Público Uruguay

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

article

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

artículo científico publicado en 2004

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

artículo científico publicado en 1998

A novel truncated form of eNOS associates with altered vascular function

scientific article published on 03 December 2013

A thiazide test for the diagnosis of renal tubular hypokalemic disorders

scientific article published on 14 March 2007

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

article

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

AntiHunter: searching BLAST output for EST antisense transcripts

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

Autosomal dominant restless legs syndrome maps on chromosome 14q.

artículo científico publicado en 2003

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

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma

artículo científico publicado en 2007

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

scientific journal article

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

scientific article published on 20 March 2020

Defective intracellular trafficking of uromodulin mutant isoforms

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

article

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

Further evidence of genetic heterogeneity in familial essential tremor

artículo científico publicado en 2007

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

artículo científico publicado en 1998

Genetic heterogeneity in Malattia Leventinese

artículo científico publicado en 2002

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

artículo científico publicado en 2009

Genetics in restless legs syndrome

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Glucocorticoid receptor polymorphism in genetic hypertension.

artículo científico publicado en 1998

Guidelines for the use and interpretation of assays for monitoring autophagy

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

In search of antisense

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

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

artículo científico publicado en 2003

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

artículo científico publicado en 2000

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

scientific article published on 30 January 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 1996

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 1999

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

artículo científico publicado en 2009

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

SNP prioritization using a Bayesian probability of association

artículo científico publicado en 2012

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

artículo científico publicado en 1998

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

artículo científico publicado en 2002

The genetic and molecular basis of epilepsy

artículo científico publicado en 2003

The mitochondrial protease AFG3L2 is essential for axonal development

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Uromodulin storage diseases: clinical aspects and mechanisms

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2018

Lista de obras de Giorgio Casari

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

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

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

A novel truncated form of eNOS associates with altered vascular function

A thiazide test for the diagnosis of renal tubular hypokalemic disorders

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

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

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

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

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

AntiHunter: searching BLAST output for EST antisense transcripts

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

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

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

Autosomal dominant restless legs syndrome maps on chromosome 14q.

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

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

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

Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma

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

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

Defective intracellular trafficking of uromodulin mutant isoforms

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

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

Evidence for Genetic Heterogeneity in Benign Familial Hematuria

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

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

Further evidence of genetic heterogeneity in familial essential tremor

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

Genetic heterogeneity in Malattia Leventinese

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

Genetics in restless legs syndrome

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

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

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

Glucocorticoid receptor polymorphism in genetic hypertension.

Guidelines for the use and interpretation of assays for monitoring autophagy

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

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

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

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

In search of antisense

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

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

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

SNP prioritization using a Bayesian probability of association

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

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

The genetic and molecular basis of epilepsy

The mitochondrial protease AFG3L2 is essential for axonal development

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

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

Uromodulin storage diseases: clinical aspects and mechanisms

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

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