F. Taroni

发表

Different consequences of EGR2 mutants on the transactivation of human cx32 promoter

E. Bellone, M. Musso, P. Balestra, 2003, Neurobiology of Disease.

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

P. Plevani, F. Tempia, A. Pastore, 2010, Nature Genetics.

Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages

C. Gellera, M. Grisoli, M. Bruzzone, 2020, Frontiers in Neurology.

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

F. Taroni, C. Mariotti, L. Politi, 2016, Investigative ophthalmology & visual science.

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature

D. Pareyson, F. Taroni, D. D. Bella, 2020, Journal of clinical neuroscience.

Spinocerebellar ataxia type 1.

Franco Taroni, Caterina Mariotti, F. Taroni, 2012, Handbook of clinical neurology.

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

Y. Hayashi, I. Nishino, A. Pichiecchio, 2018, European journal of neurology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

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

B. Castellotti, C. Gellera, N. Ticozzi, 2008, Neurogenetics.

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

C. Lovati, S. di Donato, C. Gellera, 2007, Journal of Neurology.

SCA 28 , a novel form of autosomal dominant cerebellar ataxia on chromosome 18 p 11 . 22 – q 11 . 2

C. Gellera, A. Brusco, M. Grisoli, 2005 .

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype

F. Taroni, C. Mariotti, S. Magri, 2021, Neurological Sciences.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

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

D. Pareyson, L. Chiapparini, F. Taroni, 2014, Journal of the peripheral nervous system : JPNS.

A Randomized Controlled Trial Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With

L. Pantoni, D. Inzitari, A. Federico, 2014 .

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

S. Franceschetti, M. Grisoli, F. Taroni, 2018, Journal of Neurology.

The role of clinical and neuroimaging features in the diagnosis of CADASIL

E. Parati, P. Vitali, G. Comi, 2018, Journal of Neurology.

Frontal cortex BOLD signal changes in premanifest Huntington disease

F. Ghielmetti, M. Mandelli, M. Grisoli, 2014, Neurology.

Expanding the spectrum of genes responsible for hereditary motor neuropathies

M. Devoto, D. Lazarević, G. Comi, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

implications for diagnosis and therapy . carnitine palmitoyltransferase deficiency : palmitoyltransferases in patients with a Characterisation of carnitine

F. Taroni, S. Jackson, J. Schaefer, 2003 .

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.

D. Turnbull, F. Taroni, S. Jackson, 1997, Journal of neurology, neurosurgery, and psychiatry.

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

B. Castellotti, C. Gellera, F. Taroni, 1996, American journal of human genetics.

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype–phenotype correlation

N. Longo, F. Taroni, B. Garavaglia, 2000, Human mutation.

Sequence analysis, biogenesis, and mitochondrial import of the alpha-subunit of rat liver propionyl-CoA carboxylase.

F. Taroni, E. Sztul, M. Browner, 1989, The Journal of biological chemistry.

Neuropsychological features of adult form of Alexander disease

D. Pareyson, F. Taroni, D. D. Di Bella, 2019, Journal of the Neurological Sciences.

Pleiotropic effects of spastin on neurite growth depending on expression levels

E. Rugarli, G. Siciliano, G. Mancuso, 2009, Journal of neurochemistry.

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

G. Lauria, F. Taroni, P. Podini, 2008, Experimental Neurology.

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

C. Gellera, F. Taroni, Vera Manelli, 2020, Cells.

Glutamine Synthetase-1 induces autophagy-lysosomal degradation of huntingtin aggregates and ameliorates animal motility in a Drosophila model for Huntington’s disease

C. Gellera, F. Taroni, Vera Manelli, 2019, bioRxiv.

Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients

C. Gellera, F. Taroni, C. Mariotti, 2018, Neuroscience Letters.

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

C. Gellera, V. Broccoli, M. Rasponi, 2020, Nature Communications.

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

B. Castellotti, C. Gellera, G. Lauria, 2012, Neurobiology of Aging.

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

F. Taroni, E. Rovelli, S. Levi, 2008, Human molecular genetics.

Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy

S. Botti, V. Scaioli, D. Pareyson, 1998, Muscle & nerve.

Purification and properties of cytosolic malic enzyme from human skeletal muscle.

S. di Donato, F. Taroni, 1988, The International journal of biochemistry.

Evidence for two distinct mitochondrial malic enzymes in human skeletal muscle: purification and properties of the NAD(P)+-dependent enzyme.

S. di Donato, C. Gellera, F. Taroni, 1987, Biochimica et biophysica acta.

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

G. Finocchiaro, C. Gellera, E. Lamantea, 1992, Proceedings of the National Academy of Sciences of the United States of America.

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

G. Comi, S. Corti, C. Shaw, 2015, Journal of Neurology.

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

C. Gellera, C. Pantaleoni, F. Taroni, 2018, Human mutation.

Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population

C. Gellera, E. Salvatore, F. Taroni, 2020, Neurological Sciences.

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

C. Gellera, G. Lauria, G. Soraru', 2020, Journal of clinical medicine.

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies

D. Pareyson, F. Taroni, 1996, Current opinion in neurology.

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

V. Scaioli, D. Pareyson, A. Solari, 1996, Neurology.

Gene dosage effects in hereditary peripheral neuropathy

J. Gabriel, A. Steck, D. Pareyson, 1997, Neurology.

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

N. Bresolin, G. Comi, S. Corti, 2021, Annals of clinical and translational neurology.

Charcot-Marie-Tooth disease type 2 and P0 gene mutations.

D. Pareyson, M. Mora, F. Taroni, 1999, Neurology.

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

B. Castellotti, C. Gellera, N. Nardocci, 2011, neurogenetics.

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

A. Franke, R. Płoski, Michael A. Gonzalez, 2014, American journal of human genetics.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

C. Pantaleoni, F. Taroni, C. Mariotti, 2019, American journal of medical genetics. Part A.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

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

M. Zeviani, B. Castellotti, C. Gellera, 2001, Neuromuscular Disorders.

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

B. Castellotti, C. Gellera, S. Franceschetti, 2019, Epilepsy Research.

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

D. Pareyson, F. Taroni, M. Bugiani, 2009, Neuromuscular Disorders.

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

E. Bertini, F. Taroni, B. Garavaglia, 1996, The Journal of pediatrics.

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

S. Botti, D. Pareyson, G. Lauria, 2000, Neurology.

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

D. Pareyson, F. Taroni, S. Magri, 2017, Journal of the peripheral nervous system : JPNS.

Charcot‐Marie‐Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

G. Siciliano, M. Mostacciuolo, F. Taroni, 2001, Human mutation.

A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene

L. Santoro, G. Siciliano, F. Taroni, 2019, Journal of the peripheral nervous system : JPNS.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

M. Zeviani, R. Schüle, L. Schöls, 2020, Annals of neurology.

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.

N. Bresolin, G. Comi, S. Corti, 2020, Parkinsonism & related disorders.

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

E. Valente, E. Lamantea, C. Pantaleoni, 2021, Applied Sciences.

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

D. Pareyson, R. Cantello, F. Taroni, 2016, Neuromuscular Disorders.

cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.

M. Rocchi, G. Finocchiaro, F. Taroni, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Topical Review: Schizencephaly: Clinical Spectrum, Epilepsy, and Pathogenesis

F. Taroni, G. Battaglia, T. Granata, 2004 .

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

V. Scaioli, D. Pareyson, G. Lauria, 2010, Neurology.

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

H. Houlden, R. Sandford, D. Pareyson, 2011, Neurology.

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

C. Gellera, D. Pareyson, F. Taroni, 2011, Neuromuscular Disorders.

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

A. Quattrone, D. Pareyson, M. Muglia, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

A novel founder mutation in the MFN 2 gene associated with variable Charcot –

D. Pareyson, F. Taroni, 2007 .

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

A. Martinuzzi, F. Taroni, S. Baratta, 2022, Frontiers in Neurology.

D. Pareyson, F. Taroni, S. Magri, 2022, European journal of neurology.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout

C. Gellera, F. Taroni, C. Mariotti, 2020, American journal of medical genetics. Part A.

Facial nerve is liable to pressure palsy

A. Arrigo, F. Taroni, E. Alfonsi, 1998, Neurology.

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

F. Taroni, J. Saudubray, J. Bonnefont, 1996, American journal of human genetics.

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

L. Caputi, F. Taroni, E. Ciceri, 2016, Journal of the Neurological Sciences.

Cholesterol-laden brain-permeable nanoparticles support long-lasting cognitive recovery and motor amelioration in the slow-progressing zQ175DN mouse model of Huntington’s Disease

G. Biella, E. Scanziani, M. Salmona, 2022, bioRxiv.

2018 Peripheral Nerve Society Annual Meeting 21‐25 July, 2018 Baltimore, Maryland

J. Polke, M. Reilly, F. Taroni, 2018, Journal of the Peripheral Nervous System.

Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells

A. Fischer, F. Taroni, J. Villard, 1996, Journal of the Neurological Sciences.

Mutational mechanisms in MFN2‐related neuropathy: compound heterozygosity for recessive and semidominant mutations

D. Pareyson, F. Taroni, S. Magri, 2015, Journal of the peripheral nervous system : JPNS.

Fumarate hydratase deficiency

E. Lamantea, F. Taroni, C. Bellini, 1998, Journal of Inherited Metabolic Disease.

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

A. Pavlovic, G. Uziel, J. Ostojić, 2013, Journal of Neurology.

Pathways to motor incoordination: the inherited ataxias

F. Taroni, S. Didonato, 2004, Nature Reviews Neuroscience.

Molecular and functional analysis of SLC25A20 mutations causing carnitine‐acylcarnitine translocase deficiency

W. Chung, A. Ribes, V. Iacobazzi, 2004, Human mutation.

Striatal infusion of cholesterol promotes dose‐dependent behavioral benefits and exerts disease‐modifying effects in Huntington's disease mice

A. Caricasole, G. Biella, A. Falqui, 2020, EMBO molecular medicine.

Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.

S. Dimauro, G. Cortopassi, F. Taroni, 2007, Free radical biology & medicine.

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

F. Taroni, P. Willems, P. Cavadini, 1993, Nature Genetics.

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.

G. Finocchiaro, G. Uziel, F. Taroni, 1992, Progress in clinical and biological research.

The precursor of the biotin-binding subunit of mammalian propionyl-CoA carboxylase can be translocated into mitochondria as apo- or holoprotein.

F. Taroni, L. Rosenberg, 1991, The Journal of biological chemistry.

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

E. Lamantea, F. Taroni, S. Baratta, 2000, Pediatric neurology.

Systemic carnitine deficiency due to lack of electron transfer flavoprotein

P. Rinaldo, F. Taroni, S. Donato, 1986, Neurology.

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

F. Taroni, B. Garavaglia, M. Rimoldi, 1999, Journal of Inherited Metabolic Disease.

Clinical and molecular heterogeneity in carnitine-acylcarnitine translocase deficiency.

A. Ribes, V. Iacobazzi, F. Taroni, 2000 .

Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial

A. Munnich, M. Tarnopolsky, M. Pandolfo, 2014, Annals of neurology.

Disorders of Lipid Metabolism

F. Taroni, S. Donato, 2015 .

Disorders of Voluntary Muscle: Metabolic myopathies: Defects of carbohydrate and lipid metabolism

J. Vissing, F. Taroni, S. Donato, 2010 .

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

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

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis

Aleksey, Davide, Moskvina, 2014 .

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

D. Timmann, S. Züchner, D. Jokisch, 2016, Brain : a journal of neurology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

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

D. Timmann, S. Züchner, A. Durr, 2016, Brain : a journal of neurology.

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.

C. Gellera, G. Cortopassi, F. Taroni, 1999, Human molecular genetics.

Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

L. Chiapparini, F. Taroni, C. Mariotti, 2013 .

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

S. Pulst, D. Rubinsztein, B. Underwood, 2013, The Cerebellum.

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

Franco Taroni, Caterina Mariotti, Alfredo Brusco, 2004, Archives of neurology.

Paraoxonase gene mutations in amyotrophic lateral sclerosis

Robert H. Brown, D. A. Bosco, J. Glass, 2010, Annals of neurology.

Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis

S. C. Chafe, D. Goldstein, Robert H. Brown, 2012, Nature.

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

J. Landers, C. Gellera, P. Keagle, 2009, Neurology.

A neuropathological, stereo-EEG, and MRI study of subcortical band heterotopia

L Tassi, S Francione, R. Garbelli, 2003, Neurology.

CADASIL: Treatment and Management Options

E. Parati, F. Taroni, S. Baratta, 2017, Current Treatment Options in Neurology.

Targeted Multigene Sequencing Panels Enable Fast, Cost-Effective Variant Discovery

F. Taroni, 2017 .

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

C. Gellera, F. Taroni, S. Donato, 2009, Experimental Neurology.

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

M. Ristow, G. Cortopassi, D. Morin, 2005, Human molecular genetics.

Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers

E. Visani, M. Grisoli, M. Bruzzone, 2021, The Cerebellum.

Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease.

A. Bachoud-Lévi, C. Gellera, M. Grisoli, 2018, Parkinsonism & related disorders.

NMDA Receptor Composition Differs Among Anatomically Diverse Malformations of Cortical Development

L. Tassi, M. di Luca, M. Cossu, 2006, Journal of neuropathology and experimental neurology.

Yeast and Human Frataxin Are Processed to Mature Form in Two Sequential Steps by the Mitochondrial Processing Peptidase*

J. Adamec, S. Branda, F. Taroni, 1999, The Journal of Biological Chemistry.

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

J. Kira, Y. Matsubara, F. Taroni, 1998, Human mutation.

Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

G. Lauria, F. Taroni, E. Dalla Bella, 2019, Neurological Sciences.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

F. Baas, S. Züchner, G. Beecham, 2019, Annals of neurology.

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

B. Castellotti, C. Gellera, D. Pareyson, 2014, Brain : a journal of neurology.

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

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

Marco Seri, Franco Taroni, Caterina Mariotti, 2006, Brain : a journal of neurology.

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

D. Pareyson, F. Taroni, D. D. Di Bella, 2017, Journal of the peripheral nervous system : JPNS.

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28

E. Rugarli, P. Parizel, W. van Hecke, 2014, Neurology.

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

C. Gellera, A. Brusco, F. Taroni, 2008, The Cerebellum.

deficiency: implications for diagnosis and therapy

F. Taroni, S. Jackson, J. Schaefer, 2003 .

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

G. Finocchiaro, L. Montermini, C. Gellera, 1995, Human molecular genetics.

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.

G. Finocchiaro, L. Montermini, C. Gellera, 1994, Genomics.

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

V. Scaioli, D. Pareyson, F. Taroni, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Effect of diazoxide on Friedreich ataxia models

G. Merla, F. Taroni, M. Pook, 2018, Human molecular genetics.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers

E. Visani, M. Grisoli, M. Bruzzone, 2021, The Cerebellum.

Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: A molecular-genetic study

C. Gellera, F. Taroni, P. Cavadini, 1994 .

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial

L. Pantoni, D. Inzitari, A. Federico, 2014, Stroke.

Hypomyelinating leukodystrophies in adults: Clinical and genetic features

C. Gellera, D. Pareyson, F. Taroni, 2020, European journal of neurology.

Pendular nystagmus in hypomyelinating leukodystrophy

L. D'Incerti, D. Pareyson, F. Taroni, 2013, Journal of Clinical Neuroscience.

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

R. Finkel, S. Züchner, F. Muntoni, 2020, Brain : a journal of neurology.

Expanding the phenotypic spectrum of TRIM2‐associated Charcot‐Marie‐Tooth disease

F. Taroni, S. Baratta, S. Magri, 2020, Journal of the peripheral nervous system : JPNS.

Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.

D. Pareyson, M. Shy, M. Mora, 1999, Annals of the New York Academy of Sciences.

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

G. Comi, S. Corti, E. Capitani, 2016, Stroke.

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities

E. Bertini, C. Duyckaerts, F. Scaravilli, 2009, Journal of the Neurological Sciences.

Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?

D. Inzitari, A. Federico, R. De Maria, 2013, PLoS ONE.

Impaired vasoreactivity in mildly disabled CADASIL patients

L. Pantoni, D. Inzitari, A. Federico, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Phenotype and genotype variation in primary carnitine deficiency

J. Gargus, N. Longo, S. Korman, 2001, Genetics in Medicine.

Molecular Pathogenesis of Mitochondrial Diseases

M. Zeviani, C. Gellera, F. Taroni, 1995 .

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

G. Finocchiaro, L. Montermini, F. Taroni, 1994, Biochimica et biophysica acta.

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

A. Erbetta, D. Pareyson, G. Lauria, 2003, Neurology.

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

Michelle K. Lupton, T. Hortobágyi, Robert H. Brown, 2012, European Journal of Human Genetics.

Two-step Processing of Human Frataxin by Mitochondrial Processing Peptidase

J. Adamec, F. Taroni, P. Cavadini, 2000, The Journal of Biological Chemistry.

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

B. Castellotti, C. Gellera, E. Buratti, 2009, Human mutation.

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

C. Lovati, C. Gellera, F. Taroni, 2012, Neuroscience Letters.

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

Monica Consonni, D. Pareyson, L. Chiapparini, 2016, Journal of Neurology.

Preparation of yeast mitochondria and in vitro assay of respiratory chain complex activities

F. Taroni, V. Fracasso, M. Rimoldi, 2010 .

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

P. Nichelli, F. Taroni, J. Mandrioli, 2016, Clinical Neurology and Neurosurgery.

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

G. Comi, S. Corti, B. Castellotti, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

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

S. Corti, J. Powell, B. Castellotti, 2012, Neurobiology of Aging.

Insights into kinetics, release, and behavioral effects of brain-targeted hybrid nanoparticles for cholesterol delivery in Huntington’s disease

M. Salmona, L. Colombo, M. Bombaci, 2020, bioRxiv.

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

C. Gellera, M. Duno, F. Taroni, 2014, Parkinsonism & related disorders.

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

G. Cortopassi, F. Taroni, E. Napoli, 2003, Human molecular genetics.

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.

C. Gellera, G. Cortopassi, F. Taroni, 2001, Human molecular genetics.

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

B. Castellotti, C. Gellera, L. Orsi, 2005, Neurology.

Frataxin gene point mutations in Italian Friedreich ataxia patients

B. Castellotti, C. Gellera, F. Taroni, 2007, Neurogenetics.

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

P. Fossa, E. Cichero, D. Pareyson, 2020, Cells.

PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies

S. Botti, D. Pareyson, F. Taroni, 1997, Neurology.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Sita D Gupta, K. Gable, T. Dunn, 2022, Neuropathology and applied neurobiology.

Erythropoietin in Friedreich ataxia

W. Poewe, W. Nachbauer, S. Boesch, 2013, Journal of neurochemistry.

Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial

A. Solari, G. Lauria, M. Cappellini, 2012, Movement disorders : official journal of the Movement Disorder Society.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4)

Davide Pareyson, Isabella Moroni, Franco Taroni, 2016, Journal of the peripheral nervous system : JPNS.

SREBP2 delivery to striatal astrocytes normalizes transcription of cholesterol biosynthesis genes and ameliorates pathological features in Huntington’s Disease

L. Zentilin, M. Giacca, G. Biella, 2020, bioRxiv.

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

N. Bresolin, G. Tedeschi, D. Pareyson, 2014, Neurology.

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

G. Cortopassi, F. Taroni, E. Napoli, 2006, Antioxidants & redox signaling.

Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia

C. Gellera, D. Pareyson, M. Grisoli, 2023, Movement disorders : official journal of the Movement Disorder Society.

Schizencephaly: clinical spectrum, epilepsy, and pathogenesis.

F. Taroni, G. Battaglia, T. Granata, 2005, Journal of child neurology.

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

G. Comi, F. Taroni, S. Baratta, 2007, Neuromuscular Disorders.

Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria

S. di Donato, G. Finocchiaro, F. Taroni, 1986, Neurology.

cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase.

M. Rocchi, G. Finocchiaro, F. Taroni, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy

B. Castellotti, C. Gellera, D. Pareyson, 2019, Neurology.

B35 Glutamine synthetase-1 induces autophagy and neuronal survival in a drosophila model huntington’s disease

C. Gellera, F. Taroni, C. Mariotti, 2016 .

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

C. Bruno, C. Minetti, F. Taroni, 1998, Neuromuscular Disorders.

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

C. Gellera, F. Taroni, C. Mariotti, 2015, Journal of Clinical Neurology.

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

S. di Donato, M. Pandolfo, G. Finocchiaro, 1992, Genomics.

Somatosensory Conduction Pathway in Spastic Paraplegia Type 5

E. Visani, F. Taroni, C. Mariotti, 2014, Journal of clinical neurology.

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

D. Pareyson, G. Lauria, F. Taroni, 2012, Journal of the peripheral nervous system : JPNS.

Glutamate metabolism alterations in dominant OPCA

M. Pandolfo, G. Finocchiaro, F. Taroni, 1984 .

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

Ewout J. N. Groen, D. Rujescu, S. Corti, 2014, Neurobiology of Aging.

Chronic cholesterol administration to the brain supports complete and long-lasting cognitive and motor amelioration in Huntington’s disease

G. Biella, E. Scanziani, M. Salmona, 2023, bioRxiv.

Predictive Genetic Tests in Neurodegenerative Disorders: A Methodological Approach Integrating Psychological Counseling for At-Risk Individuals and Referring Clinicians

C. Gellera, F. Taroni, C. Mariotti, 2010, European Neurology.

Sensitivity of FRDA lymphoblasts to salts of transition metal ions.

C. Gellera, G. Cortopassi, F. Taroni, 2000, Antioxidants & redox signaling.

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

A. Quattrone, D. Pareyson, M. Muglia, 2009, BMJ Case Reports.

Electroencephalographic Recordings of Focal Seizures in Patients Affected by Periventricular Nodular Heterotopia: Role of the Heterotopic Nodules in the Genesis of Epileptic Discharges

S. Franceschetti, L. Chiapparini, F. Taroni, 2004 .

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

E. Dams, F. Taroni, P. Willems, 1996, Human Genetics.

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

A. Steck, D. Pareyson, N. Schaeren-Wiemers, 2006, Journal of the peripheral nervous system : JPNS.

Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot‐Marie‐Tooth Disease

D. Pareyson, M. Shy, F. Taroni, 1999, Annals of the New York Academy of Sciences.

Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry

L. Santoro, A. Quattrone, L. Padua, 2023, European journal of neurology.

CASE REPORT Fumarate hydratase de—ciency

F. Taroni, C. Bellini, U. Caruso, 1998 .

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

F. Baas, S. Züchner, G. Beecham, 2019, Journal of neuromuscular diseases.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

C. Gellera, V. Scaioli, D. Pareyson, 2023, Journal of Neurology.

Spinocerebellar ataxia type 1.

F. Taroni, C. Mariotti, S. Donato, 2014, Handbook of clinical neurology.

SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington's disease phenotypes.

L. Zentilin, M. Giacca, G. Biella, 2021, Brain : a journal of neurology.

Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children.

G. Uziel, F. Taroni, 1996, Current opinion in neurology.

Mitochondrial Disorders

S. di Donato, F. Taroni, D. Marmolino, 2021, Handbook of the Cerebellum and Cerebellar Disorders.

Spinocerebellar ataxia type 1.

F. Taroni, C. Mariotti, S. Donato, 2014, Handbook of clinical neurology.

Spinocerebellar ataxia type 28.

S. di Donato, F. Taroni, C. Mariotti, 2012, Handbook of clinical neurology.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

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

M. Pandolfo, F. Taroni, P. Cavadini, 1993, Human molecular genetics.

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

P. Plevani, F. Tempia, A. Pastore, 2010, Nature Genetics.

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial

L. Pantoni, D. Inzitari, A. Federico, 2014, Stroke.

Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial

A. Munnich, M. Tarnopolsky, M. Pandolfo, 2014, Annals of neurology.

Impaired vasoreactivity in mildly disabled CADASIL patients

L. Pantoni, D. Inzitari, A. Federico, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, F. Baas, T. Meitinger, 2016, Nature Genetics.

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

D. Pareyson, F. Taroni, D. D. Di Bella, 2014, Neurology.

Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis

S. C. Chafe, D. Goldstein, M. Moore, 2012, Nature.

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

C. Gellera, C. Pantaleoni, F. Taroni, 2018, Human mutation.

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

E. Mercuri, F. Taroni, M. Sabatelli, 2014, Journal of Neurological Sciences.