List of works - Cinzia Gellera

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.

scientific article published on 13 March 2009

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.

scientific article published on October 2010

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

A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.

scientific article published in February 2009

A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

article

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

scientific article

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Amyotrophic lateral sclerosis causes small fiber pathology

scientific article published on 01 February 2016

An optimized method for manufacturing a clinical scale dendritic cell-based vaccine for the treatment of glioblastoma

scientific article

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

scientific article published on 09 September 2009

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

scientific article published on 10 April 2008

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

article

Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation

scientific article published on 28 March 2016

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

scientific article published on 26 April 2014

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

Brain diffusion-weighted imaging in Friedreich's ataxia

scientific article published on 02 March 2011

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

scientific article published on 4 July 2012

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

scientific article

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

scientific article published in March 2006

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

scientific article published on 13 November 2015

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

scientific article published on 01 May 1999

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene

scientific article published on 14 October 2010

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Cortical myoclonus in childhood and juvenile onset Huntington's disease

scientific article published on 10 April 2012

Early white matter involvement in an infant carrying a novel mutation in ACOX1.

scientific article published on 23 February 2016

Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency

scientific article published on 21 February 2006

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

scientific article published on 07 May 2014

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

scientific article published in January 2005

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Granny trips down: is she carrying the big bad wolf? ⬇️

scientific article published on May 17, 2012

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

scientific article published in April 2009

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

scientific article

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

scientific article

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

scientific article published on 4 June 2014

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

scientific article published on 18 December 2007

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

scientific article published on 02 February 2010

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

scientific article published on 18 March 2015

Kennedy's disease: clinical and molecular study of two Italian families

scientific article published on 01 October 1995

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

scientific article published on February 2006

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

scientific article published on 17 June 2015

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

scientific article published in The Lancet

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency ⬇️

scientific article published on September 15, 1992

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

scientific article

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

scientific article

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

scientific article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient

scientific article

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

scientific article published on 01 June 2016

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

scientific article published on 25 August 2012

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

scientific article published on 25 May 2011

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

scientific article published on 15 May 2014

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

scientific article

Paraoxonase gene mutations in amyotrophic lateral sclerosis

scientific article

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

scientific article published on 6 May 2011

Pathogenic effect of an intermediate-size SCA-6 allele (CAG) 19 in a homozygous patient ⬇️

scientific article published on October 23, 2001

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

scientific article published on 01 August 2000

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

scientific article published on 26 January 2012

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

scientific article

Prevalence of inherited ataxias in the province of Padua, Italy

scientific article published on 05 August 2004

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

scientific article published on 31 July 2009

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

scientific article published on 22 December 2011

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

scientific article published on 17 February 2018

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

scientific article

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

scientific article published on 14 August 2013

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

scientific article published on 11 October 2012

Sensitivity of FRDA lymphoblasts to salts of transition metal ions.

scientific article published in January 2000

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

scientific article published on 29 July 2015

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

scientific article published on 12 September 2007

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

scientific article

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

scientific article

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

scientific article published on 01 May 2001

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

scientific article

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

scientific article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

scientific article

The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease

scientific article published on 08 January 2009

The rare G93D mutation causes a slowly progressing lower motor neuron disease.

scientific article

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 8 November 2012

Visual system involvement in patients with Friedreich's ataxia

scientific article

cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein

scientific article

List of works by Cinzia Gellera

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.

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

A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.

A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Amyotrophic lateral sclerosis causes small fiber pathology

An optimized method for manufacturing a clinical scale dendritic cell-based vaccine for the treatment of glioblastoma

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Brain diffusion-weighted imaging in Friedreich's ataxia

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Cortical myoclonus in childhood and juvenile onset Huntington's disease

Early white matter involvement in an infant carrying a novel mutation in ACOX1.

Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Granny trips down: is she carrying the big bad wolf? ⬇️

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

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

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Kennedy's disease: clinical and molecular study of two Italian families

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency ⬇️

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

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

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

Paraoxonase gene mutations in amyotrophic lateral sclerosis

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Pathogenic effect of an intermediate-size SCA-6 allele (CAG) 19 in a homozygous patient ⬇️

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

Prevalence of inherited ataxias in the province of Padua, Italy

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

Sensitivity of FRDA lymphoblasts to salts of transition metal ions.

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.