List of works - Franco Taroni

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 NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

scientific article published on 16 December 2016

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

scientific article published on 01 November 2007

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. ⬇️

scientific article

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

scientific article published on 24 May 2016

Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy

scientific journal article

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

scientific article

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

scientific article published on 09 September 2009

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

article

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

scientific article published on 26 April 2014

CADASIL: Treatment and Management Options.

scientific article

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

scientific article published on 21 April 2020

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

scientific article published on 31 May 2016

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

scientific article published on 01 February 2000

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

scientific article published on 30 July 2014

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

scientific article published on 10 October 2018

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias

scientific article published on April 2014

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

scientific article published in July 2003

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

scientific article published on 30 August 2014

Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

scientific article

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

scientific article published on 23 February 2016

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

scientific article published on 25 January 2016

Erythropoietin in Friedreich ataxia

scientific article

Four novel cases of periaxin-related neuropathy and review of the literature.

scientific article

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

scientific article

Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

scientific article published on 21 August 2020

Frataxin, iron-sulfur clusters, heme, ROS, and aging.

scientific article published on March 2006

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

scientific article published on 12 September 2009

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker

scientific article

Fumarate hydratase deficiency

scientific article published on 01 June 1998

Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington's Disease

scientific article published on 13 January 2020

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

scientific article published on 01 March 2017

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

scientific article published in April 2009

Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene

scientific article

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 the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

scientific article published in December 2007

Impaired vasoreactivity in mildly disabled CADASIL patients

scientific article published on 09 November 2011

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

scientific article published on 01 March 1996

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

scientific article published on 01 October 1995

Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization

scientific article (publication date: August 1992)

MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.

scientific article published in May 2016

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

scientific article published on 01 August 1999

Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia

scientific article

Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

scientific article published on 01 December 2015

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

scientific article published on 01 December 2012

NMDA receptor composition differs among anatomically diverse malformations of cortical development.

scientific article published in September 2006

Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype

scientific article published on 01 March 2006

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

scientific article published on 25 August 2012

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

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

scientific article published on 9 May 2014

Pendular nystagmus in hypomyelinating leukodystrophy.

scientific article published on 8 July 2013

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

scientific article

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

scientific article

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

scientific article

SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes

scientific article published on 07 May 2021

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

scientific article published on 17 April 2016

Somatosensory conduction pathway in spastic paraplegia type 5.

scientific article published on 6 October 2014

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms

scientific article published on 03 February 2020

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

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

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

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

scientific article

The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.

scientific article published on 5 March 2016

The neurotoxicity of mutant proteins 20 years after the discovery of the first mutant gene involved in neurodegeneration. Foreword.

scientific article published in May 2012

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

scientific article published on 04 February 2016

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene

scientific article

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

scientific article published on 01 February 1998

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation

scientific article

Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.

scientific article

List of works by Franco Taroni

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

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. ⬇️

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

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

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

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

CADASIL: Treatment and Management Options.

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

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

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

Erythropoietin in Friedreich ataxia

Four novel cases of periaxin-related neuropathy and review of the literature.

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Frataxin, iron-sulfur clusters, heme, ROS, and aging.

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker

Fumarate hydratase deficiency

Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington's Disease

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

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

Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene

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

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

Impaired vasoreactivity in mildly disabled CADASIL patients

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

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

Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization

MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia

Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

NMDA receptor composition differs among anatomically diverse malformations of cortical development.

Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype

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

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

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

Pendular nystagmus in hypomyelinating leukodystrophy.

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

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

SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Somatosensory conduction pathway in spastic paraplegia type 5.

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms

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.

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

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

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

The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.

The neurotoxicity of mutant proteins 20 years after the discovery of the first mutant gene involved in neurodegeneration. Foreword.

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation

Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.