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Research Output 1991 2020

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Article
2020

Utility of the Parkinson’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease

Cognitive Phenotype Working Group of the European Huntington’s Disease Network, Jan 1 2020, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Huntington Disease
Parkinson Disease
Cognition
Dementia
Area Under Curve
2019

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

Gatti, M., Magri, S., Nanetti, L., Sarto, E., Di Bella, D., Salsano, E., Pantaleoni, C., Mariotti, C. & Taroni, F., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2277-2283 7 p.

Research output: Contribution to journalArticle

Polynucleotide 5'-Hydroxyl-Kinase
Microcephaly
Cerebellar Ataxia
Phosphoric Monoester Hydrolases
Phenotype

Secondary breast angiosarcoma: A multicentre retrospective survey by the national Italian association of Breast Surgeons (ANISC)

Taffurelli, M., Pellegrini, A., Meattini, I., Orzalesi, L., Tinterri, C., Roncella, M., Terribile, D., Caruso, F., Tazzioli, G., Pollini, G., Friedman, D., Mariotti, C., Cianchetti, E., Cabula, C., Thomas, R., Cedolini, C., Rovera, F., Grassi, M., Lucani, G., Cappella, A. & 5 others, Bortul, M., Stacul, G., Scarabeo, F., Procaccini, E. & Galimberti, V., Jun 1 2019, In : Breast. 45, p. 56-60 5 p.

Research output: Contribution to journalArticle

Breast
Mastectomy
Hemangiosarcoma
Lymphedema
Survival

Secondary breast angiosarcoma: A multicentre retrospective survey by the national Italian association of Breast Surgeons (ANISC)

Taffurelli, M., Pellegrini, A., Meattini, I., Orzalesi, L., Tinterri, C., Roncella, M., Terribile, D., Caruso, F., Tazzioli, G., Pollini, G., Friedman, D., Mariotti, C., Cianchetti, E., Cabula, C., Thomas, R., Cedolini, C., Rovera, F., Grassi, M., Lucani, G., Cappella, A. & 5 others, Bortul, M., Stacul, G., Scarabeo, F., Procaccini, E. & Galimberti, V., Jun 1 2019, In : Breast. 45, p. 56-60 5 p.

Research output: Contribution to journalArticle

Breast
Mastectomy
Hemangiosarcoma
Lymphedema
Survival

Spinocerebellar ataxia

Klockgether, T., Mariotti, C. & Paulson, H. L., Dec 1 2019, In : Nature Reviews Disease Primers. 5, 1, 24.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Purkinje Cells
Speech Therapy
Mutation
Premature Mortality
2018

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

Nanetti, L., Sarto, E., Castaldo, A., Magri, S., Mongelli, A., Rossi Sebastiano, D., Canafoglia, L., Grisoli, M., Malaguti, C., Rivieri, F., D’Amico, M. C., Di Bella, D., Franceschetti, S., Mariotti, C. & Taroni, F., Jan 1 2018, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Ataxia
Cerebellar Ataxia
Phenotype
Genes
Hypokinesia

Clinical and genetic characteristics of late-onset Huntington's disease

Oosterloo, M., Bijlsma, E. K., van Kuijk, S. MJ., Minkels, F., de Die-Smulders, C. EM., for the REGISTRY Investigators of the European Huntington's Disease Network, Registry Steering committee, Bachoud-Lévi, A. C., Bentivoglio, A. R., Bonelli, R. M., Biunno, I., Bronzova, J., Burgunder, J. M., Dunnett, S. B., Ferreira, J. J., Frich, J., Giuliano, J., Handley, O. J., Heiberg, A., Illarioshkin, S. & 33 others, Illmann, T., Klempir, J., Milani, P., Cormio, C., Calandra-Buonaura, G., Capellari, S., Cortelli, P., Poda, R., Language coordinators, Scaglione, C., Piacentini, S., Romoli, A. M., Sorbi, S., Albanese, A., Castagliuolo, S., Castaldo, A., Di Donato, S., Di Bella, D., Gellera, C., Mariotti, C., Nanetti, L., Soliveri, P., Taroni, F., De Michele, G., Massarelli, M., Russo, C. V., Cannella, M., Codella, V., Elifani, F., Petrollini, M., Squitieri, F., Bentivoglio, A. R. & Esposito, F., Nov 1 2018, In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

Huntington Disease
Gait
Disease Progression
Registries
Databases

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

Nanetti, L., Contarino, V. E., Castaldo, A., Sarro, L., Bachoud-Levi, A-C., Giavazzi, M., Frittoli, S., Ciammola, A., Rizzo, E., Gellera, C., Bruzzone, M. G., Taroni, F., Grisoli, M. & Mariotti, C., Jun 2018, In : Parkinsonism and Related Disorders. 51, p. 17-23 7 p.

Research output: Contribution to journalArticle

Huntington Disease
Biomarkers
Occipital Lobe
Globus Pallidus
Aptitude

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

Nanetti, L., Contarino, V. E., Castaldo, A., Sarro, L., Bachoud-Levi, A. C., Giavazzi, M., Frittoli, S., Ciammola, A., Rizzo, E., Gellera, C., Bruzzone, M. G., Taroni, F., Grisoli, M. & Mariotti, C., Jun 1 2018, In : Parkinsonism and Related Disorders. 51, p. 17-23 7 p.

Research output: Contribution to journalArticle

Huntington Disease
Biomarkers
Occipital Lobe
Globus Pallidus
Aptitude

Friedreich and dominant ataxias: Quantitative differences in cerebellar dysfunction measurements

Melac, A. T., Mariotti, C., Pierucci, A. F., Giunti, P., Arpa, J., Boesch, S., Klopstock, T., Vom Hagen, J. M., Klockgether, T., Bürk, K., Schulz, J. B., Reetz, K., Pandolfo, M., Durr, A., Du Montcel, S. T., Panzeri, M., Parkinson, M. H., Sanz-Gallego, I., Nachbauer, W., Karin, I. & 6 others, Depondt, C., Schoels, L., Giordano, I., Nanetti, L., Castaldo, A. & Eigentler, A., Jun 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 6, p. 559-565 7 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Cerebellar Diseases
Spinocerebellar Ataxias
Ataxia
Cerebellar Ataxia

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Jacobi, H., du Montcel, S. T., Bauer, P., Giunti, P., Cook, A., Labrum, R., Parkinson, M. H., Durr, A., Brice, A., Charles, P., Marelli, C., Mariotti, C., Nanetti, L., Sarro, L., Rakowicz, M., Sulek, A., Sobanska, A., Schmitz-Hübsch, T., Schöls, L., Hengel, H. & 17 others, Baliko, L., Melegh, B., Filla, A., Antenora, A., Infante, J., Berciano, J., van de Warrenburg, B. P., Timmann, D., Szymanski, S., Boesch, S., Nachbauer, W., Kang, J. S., Pandolfo, M., Schulz, J. B., Melac, A. T., Diallo, A. & Klockgether, T., Sep 1 2018, In : Journal of Neurology. 265, 9, p. 2040-2051 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Ataxia
Equipment and Supplies
Patient Reported Outcome Measures
Huntington Disease

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

Mongelli, A., Sarro, L., Rizzo, E., Nanetti, L., Meucci, N., Pezzoli, G., Goldwurm, S., Taroni, F., Mariotti, C. & Gellera, C., Jun 21 2018, In : Neuroscience Letters. 678, p. 37-42 6 p.

Research output: Contribution to journalArticle

Multiple System Atrophy
Genetic Testing
Spinocerebellar Ataxias
Genes
Alleles

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

REGISTRY Investigators of the European Huntington's Disease Network, Jan 1 2018, In : Journal of Huntington's disease. 7, 3, p. 209-222 14 p.

Research output: Contribution to journalArticle

Huntington Disease
Registries
Incidence
Neoplasms
Age of Onset

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis

Cagnoli, C., Brussino, A., Mancini, C., Ferrone, M., Orsi, L., Salmin, P., Pappi, P., Giorgio, E., Pozzi, E., Cavalieri, S., Di Gregorio, E., Ferrero, M., Filla, A., De Michele, G., Gellera, C., Mariotti, C., Nethisinghe, S., Giunti, P., Stevanin, G. & Brusco, A., May 1 2018, In : Journal of Molecular Diagnostics. 20, 3, p. 289-297 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Capillary Electrophoresis
Polymerase Chain Reaction
Alleles
Costs and Cost Analysis

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

Diallo, A., Jacobi, H., Cook, A., Labrum, R., Durr, A., Brice, A., Charles, P., Marelli, C., Mariotti, C., Nanetti, L., Panzeri, M., Rakowicz, M., Sobanska, A., Sulek, A., Schmitz-Hübsch, T., Schöls, L., Hengel, H., Melegh, B., Filla, A., Antenora, A. & 12 others, Infante, J., Berciano, J., van de Warrenburg, B. P., Timmann, D., Boesch, S., Pandolfo, M., Schulz, J. B., Bauer, P., Giunti, P., Kang, J. S., Klockgether, T. & Tezenas du Montcel, S., Apr 1 2018, In : The Lancet Neurology. 17, 4, p. 327-334 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Longitudinal Studies
Cohort Studies
Ataxia
Survival
2017

Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study

Nanetti, L., Alpini, D., Mattei, V., Castaldo, A., Mongelli, A., Brenna, G., Gellera, C. & Mariotti, C., Sep 1 2017, In : Gait and Posture. 57, p. 11-14 4 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Prospective Studies
Mutation
Sensory Feedback
Postural Balance
2016

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation

Cazzato, D., Bella, E. D., Dacci, P., Mariotti, C. & Lauria, G., Feb 1 2016, In : Journal of Neurology. 263, 2, p. 245-249 5 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Gait Ataxia
Vestibulo-Ocular Reflex
Cerebellar Diseases
Dysarthria

MRI evidence of cerebellar and extraocular muscle atrophy differently contributing to eye movement abnormalities in SCA2 and SCA28 diseases

Politi, L. S., Bianchi Marzoli, S., Godi, C., Panzeri, M., Ciasca, P., Brugnara, G., Castaldo, A., Di Bella, D., Taroni, F., Nanetti, L. & Mariotti, C., May 1 2016, In : Investigative Ophthalmology and Visual Science. 57, 6, p. 2714-2720 7 p.

Research output: Contribution to journalArticle

Oculomotor Muscles
Eye Abnormalities
Muscular Atrophy
Eye Movements
Magnetic Resonance Spectroscopy

MRI evidence of cerebellar and extraocular muscle atrophy differently contributing to eye movement abnormalities in SCA2 and SCA28 diseases

Politi, L. S., Bianchi Marzoli, S., Godi, C., Panzeri, M., Ciasca, P., Brugnara, G., Castaldo, A., Di Bella, D., Taroni, F., Nanetti, L. & Mariotti, C., May 1 2016, In : Investigative Ophthalmology and Visual Science. 57, 6, p. 2714-2720 7 p.

Research output: Contribution to journalArticle

Oculomotor Muscles
Eye Abnormalities
Muscular Atrophy
Eye Movements
Magnetic Resonance Spectroscopy

MRI evidence of cerebellar and extraocular muscle atrophy differently contributing to eye movement abnormalities in SCA2 and SCA28 diseases

Politi, L. S., Bianchi Marzoli, S., Godi, C., Panzeri, M., Ciasca, P., Brugnara, G., Castaldo, A., Di Bella, D., Taroni, F., Nanetti, L. & Mariotti, C., May 1 2016, In : Investigative Ophthalmology and Visual Science. 57, 6, p. 2714-2720 7 p.

Research output: Contribution to journalArticle

Oculomotor Muscles
Eye Abnormalities
Muscular Atrophy
Eye Movements
Magnetic Resonance Spectroscopy

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

Bertolin, C., Querin, G., Da Re, E., Sagnelli, A., Bello, L., Cao, M., Muscas, M., Pennuto, M., Ermani, M., Pegoraro, E., Mariotti, C., Gellera, C., Hanna, M. G., Pareyson, D., Fratta, P. & Sorarù, G., Jun 1 2016, In : European Journal of Neurology. 23, 6, p. 1134-1136 3 p.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
Androgen Receptors
Phenotype
Haplotypes
Genes

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Reetz, K., Dogan, I., Hilgers, R. D., Giunti, P., Mariotti, C., Durr, A., Boesch, S., Klopstock, T., de Rivera, F. J. R., Schöls, L., Klockgether, T., Bürk, K., Rai, M., Pandolfo, M., Schulz, J. B. & EFACTS Study Group, Dec 1 2016, In : The Lancet Neurology. 15, 13, p. 1346-1354 9 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Ataxia
Cohort Studies
Activities of Daily Living
Spinocerebellar Ataxias

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

Synofzik, M., Smets, K., Mallaret, M., Di Bella, D., Gallenmüller, C., Baets, J., Schulze, M., Magri, S., Sarto, E., Mustafa, M., Deconinck, T., Haack, T., Züchner, S., Gonzalez, M., Timmann, D., Stendel, C., Klopstock, T., Durr, A., Tranchant, C., Sturm, M. & 10 others, Hamza, W., Nanetti, L., Mariotti, C., Koenig, M., Schöls, L., Schüle, R., De Jonghe, P., Anheim, M., Taroni, F. & Bauer, P., May 1 2016, In : Brain. 139, 5, p. 1378-1393 16 p.

Research output: Contribution to journalArticle

Nuclear Envelope
Ataxia
Nuclear Proteins
Cerebellar Ataxia
Mutation

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure

Querin, G., DaRe, E., Martinelli, I., Bello, L., Bertolin, C., Pareyson, D., Mariotti, C., Pegoraro, E. & Sorarù, G., 2016, In : Neurological Sciences. p. 1-7 7 p.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
Outcome Assessment (Health Care)
Vital Capacity
Principal Component Analysis
Psychometrics
2015

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: A cross-sectional analysis of baseline data

Reetz, K., Dogan, I., Costa, A. S., Dafotakis, M., Fedosov, K., Giunti, P., Parkinson, M. H., Sweeney, M. G., Mariotti, C., Panzeri, M., Nanetti, L., Arpa, J., Sanz-Gallego, I., Durr, A., Charles, P., Boesch, S., Nachbauer, W., Klopstock, T., Karin, I., Depondt, C. & 7 others, vom Hagen, J. M., Schöls, L., Giordano, I. A., Klockgether, T., Bürk, K., Pandolfo, M. & Schulz, J. B., 2015, In : The Lancet Neurology. 14, 2, p. 174-182 9 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Cohort Studies
Cross-Sectional Studies
Ataxia
Outcome Assessment (Health Care)

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway

Garcia-Diaz, B., Barca, E., Balreira, A., Lopez, L. C., Tadesse, S., Krishna, S., Naini, A., Mariotti, C., Castellotti, B. & Quinzii, C. M., Apr 28 2015, In : Human Molecular Genetics. 24, 16, p. 4516-4529 14 p., ddv183.

Research output: Contribution to journalArticle

Down-Regulation
coenzyme Q10
rosiglitazone
HeLa Cells
Up-Regulation

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: A longitudinal cohort study

Jacobi, H., du Montcel, S. T., Bauer, P., Giunti, P., Cook, A., Labrum, R., Parkinson, M. H., Durr, A., Brice, A., Charles, P., Marelli, C., Mariotti, C., Nanetti, L., Panzeri, M., Rakowicz, M., Sulek, A., Sobanska, A., Schmitz-Hübsch, T., Schöls, L., Hengel, H. & 16 others, Baliko, L., Melegh, B., Filla, A., Antenora, A., Infante, J., Berciano, J., van de Warrenburg, B. P., Timmann, D., Szymanski, S., Boesch, S., Kang, J. S., Pandolfo, M., Schulz, J. B., Molho, S., Diallo, A. & Klockgether, T., Nov 1 2015, In : The Lancet Neurology. 14, 11, p. 1101-1108 8 p., 147.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Longitudinal Studies
Disease Progression
Cohort Studies
Ataxia

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

Hirst, J., Edgar, J. R., Esteves, T., Darios, F., Madeo, M., Chang, J., Roda, R. H., Dürr, A., Anheim, M., Gellera, C., Li, J., Züchner, S., Mariotti, C., Stevanin, G., Blackstone, C., Kruer, M. C. & Robinson, M. S., 2015, In : Human Molecular Genetics. 24, 17, p. 4984-4996 13 p.

Research output: Contribution to journalArticle

Lysosomal Storage Diseases
Hereditary Spastic Paraplegia
Phenotype
Proteins
Nonsense Codon

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients

Querin, G., Bertolin, C., da Re, E., Volpe, M., Zara, G., Pegoraro, E., Caretta, N., Foresta, C., Silvano, M., Corrado, D., Iafrate, M., Angelini, L., Sartori, L., Pennuto, M., Gaiani, A., Bello, L., Semplicini, C., Pareyson, D., Silani, V., Ermani, M. & 17 others, Ferlin, A., Sorarù, G., Mandrioli, J., Galasso, G., Mazzini, L., Romito, S., Tonin, P., Scarpelli, M., Ricci, G., Siciliano, G., Petrucci, A., Massa, R., Polo, A., Mariotti, C., Sagnelli, A., Palmieri, A. & Briani, C., Oct 26 2015, (Accepted/In press) In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
Phenotype
Prostate
Androgens
Bone and Bones

PEX7 mutations cause congenital cataract retinopathy and late-onset ataxia and cognitive impairment: Report of two siblings and review of the literature

Nanetti, L., Pensato, V., Leoni, V., Rizzetto, M., Caccia, C., Taroni, F., Mariotti, C. & Gellera, C., 2015, In : Journal of Clinical Neurology (Korea). 11, 2, p. 197-199 3 p.

Research output: Contribution to journalArticle

Quantifiable evaluation of cerebellar signs in children

Filipovic Pierucci, A., Mariotti, C., Panzeri, M., Giunti, P., Boesch, S., Schulz, J. B., Pandolfo, M., Durr, A. & Tezenas Du Montcel, S., Mar 24 2015, In : Neurology. 84, 12, p. 1225-1232 8 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Cerebellar Ataxia
Spinocerebellar Ataxias
Equipment and Supplies
Multicenter Studies
2014

Deferiprone in Friedreich ataxia: A 6-month randomized controlled trial

Pandolfo, M., Arpa, J., Delatycki, M. B., Le Quan Sang, K. H., Mariotti, C., Munnich, A., Sanz-Gallego, I., Tai, G., Tarnopolsky, M. A., Taroni, F., Spino, M. & Tricta, F., Oct 1 2014, In : Annals of Neurology. 76, 4, p. 509-521 13 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Randomized Controlled Trials
Ataxia
Placebos
Safety

Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: A randomized controlled trial

De Maria, R., Campolo, J., Frontali, M., Taroni, F., Federico, A., Inzitari, D., Tavani, A., Romano, S., Puca, E., Orzi, F., Francia, A., Mariotti, C., Tomasello, C., Dotti, M. T., Stromillo, M. L., Pantoni, L., Pescini, F., Valenti, R., Pelucchi, C., Parolini, M. & 1 others, Parodi, O., Oct 12 2014, In : Stroke. 45, 10, p. 2959-2966 8 p.

Research output: Contribution to journalArticle

CADASIL
Vasodilation
Endothelium
Randomized Controlled Trials
Placebos

Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: A randomized controlled trial

De Maria, R., Campolo, J., Frontali, M., Taroni, F., Federico, A., Inzitari, D., Tavani, A., Romano, S., Puca, E., Orzi, F., Francia, A., Mariotti, C., Tomasello, C., Dotti, M. T., Stromillo, M. L., Pantoni, L., Pescini, F., Valenti, R., Pelucchi, C., Parolini, M. & 4 others, Parodi, O., Sedda, V., Spagnolo, E. & De Stefano, N., Sep 2 2014, (Accepted/In press) In : Stroke.

Research output: Contribution to journalArticle

CADASIL
Vasodilation
Endothelium
Randomized Controlled Trials
Placebos

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

Van de Warrenburg, B. P. C., van Gaalen, J., Boesch, S., Burgunder, J. M., Dürr, A., Giunti, P., Klockgether, T., Mariotti, C., Pandolfo, M. & Riess, O., Apr 2014, In : European Journal of Neurology. 21, 4, p. 552-562 11 p.

Research output: Contribution to journalArticle

Ataxia
Consensus
Friedreich Ataxia
Spinocerebellar Ataxias
Genetic Testing

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

Ferraro, S., Nanetti, L., Piacentini, S., Mandelli, M. L., Bertolino, N., Ghielmetti, F., Epifani, F., Nigri, A., Taroni, F., Bruzzone, M. G., Di Donato, S., Savoiardo, M., Mariotti, C. & Grisoli, M., Jul 1 2014, In : Neurology. 83, 1, p. 65-72 8 p.

Research output: Contribution to journalArticle

Huntington Disease
Frontal Lobe
Biomarkers
Oxygen
Corpus Striatum

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

Dossena, M., Bedini, G., Rusmini, P., Giorgetti, E., Canazza, A., Tosetti, V., Salsano, E., Sagnelli, A., Mariotti, C., Gellera, C., Navone, S. E., Marfia, G., Alessandri, G., Corsi, F., Parati, E. A., Pareyson, D. & Poletti, A., Nov 13 2014, In : PLoS One. 9, 11, e112746.

Research output: Contribution to journalArticle

Atrophic Muscular Disorders
muscular atrophy
Stem cells
Mesenchymal Stromal Cells
Toxicity

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Du Montcel, S. T., Durr, A., Bauer, P., Figueroa, K. P., Ichikawa, Y., Brussino, A., Forlani, S., Rakowicz, M., Schöls, L., Mariotti, C., Van De Warrenburg, B. P. C., Orsi, L., Giunti, P., Filla, A., Szymanski, S., Klockgether, T., Berciano, J., Pandolfo, M., Boesch, S., Melegh, B. & 12 others, Timmann, D., Mandich, P., Camuzat, A., Goto, J., Ashizawa, T., Cazeneuve, C., Tsuji, S., Pulst, S. M., Brusco, A., Riess, O., Brice, A. & Stevanin, G., 2014, In : Brain. 137, 9, p. 2444-2455 12 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Age of Onset
Genes
Machado-Joseph Disease
Alleles

Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency

Rossato, M. & Mariotti, C., Apr 2014, In : Andrologia. 46, 3, p. 322-324 3 p.

Research output: Contribution to journalArticle

Vitamin E Deficiency
Cerebellar Ataxia
Spermatogenesis
Vitamin E
Spermatozoa

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. & 8 others, Abbink, T. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & Van Der Knaap, M. S., Jun 10 2014, In : Neurology. 82, 23, p. 2063-2071 9 p.

Research output: Contribution to journalArticle

Mutation
Leukoencephalopathies
Phenotype
Cardiomyopathies
Alanine-tRNA Ligase

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

Pensato, V., Castellotti, B., Gellera, C., Pareyson, D., Ciano, C., Nanetti, L., Salsano, E., Piscosquito, G., Sarto, E., Eoli, M., Moroni, I., Soliveri, P., Lamperti, E., Chiapparini, L., Di Bella, D., Taroni, F. & Mariotti, C., 2014, In : Brain. 137, 7, p. 1907-1920 14 p.

Research output: Contribution to journalArticle

Paraplegia
Phenotype
Corpus Callosum
Genes
Mutation

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

du Montcel, S. T., Durr, A., Rakowicz, M., Nanetti, L., Charles, P., Sulek, A., Mariotti, C., Rola, R., Schols, L., Bauer, P., Dufaure-Garé, I., Jacobi, H., Forlani, S., Schmitz-Hübsch, T., Filla, A., Timmann, D., van de Warrenburg, B. P., Marelli, C., Kang, J. S., Giunti, P. & 16 others, Cook, A., Baliko, L., Bela, M., Boesch, S., Szymanski, S., Berciano, J., Infante, J., Buerk, K., Masciullo, M., Di Fabio, R., Depondt, C., Ratka, S., Stevanin, G., Klockgether, T., Brice, A. & Golmard, J. L., 2014, In : Journal of Medical Genetics. 51, 7, p. 479-486 8 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Age of Onset
Genotype
Alleles
Normal Distribution

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia

Boesch, S., Nachbauer, W., Mariotti, C., Sacca, F., Filla, A., Klockgether, T., Klopstock, T., Schöls, L., Jacobi, H., Büchner, B., vom Hagen, J. M., Nanetti, L. & Manicom, K., 2014, In : Movement Disorders. 29, 7, p. 935-939 5 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Placebos
Safety
Ataxia
Biomarkers

Somatosensory conduction pathway in spastic paraplegia type 5

Vanotti, A., Nanetti, L., Sebastiano, D. R., Visani, E., Duran, D., Di Bella, D., Sarto, E., Caccia, C., Leoni, V., Taroni, F. & Mariotti, C., Oct 1 2014, In : Journal of Clinical Neurology (Korea). 10, 4, p. 373-374 2 p.

Research output: Contribution to journalArticle

Temporal disruption of upper-limb anticipatory postural adjustments in cerebellar ataxic patients

Bruttini, C., Esposti, R., Bolzoni, F., Vanotti, A., Mariotti, C. & Cavallari, P., 2014, In : Experimental Brain Research. 233, 1, p. 197-203 7 p.

Research output: Contribution to journalArticle

Upper Extremity
Cerebellum
Cerebellar Ataxia
Extremities
Cerebellar Diseases

The cerebellum and visual perceptual learning: Evidence from a motion extrapolation task

Deluca, C., Golzar, A., Santandrea, E., Lo Gerfo, E., Eštočinová, J., Moretto, G., Fiaschi, A., Panzeri, M., Mariotti, C., Tinazzi, M. & Chelazzi, L., 2014, In : Cortex. 58, p. 52-71 20 p.

Research output: Contribution to journalArticle

Cerebellum
Learning
Cognition
Motor Skills
Visual Pathways

The role of the cerebellum in dynamic changes of the sense of body ownership: A study in patients with cerebellar degeneration

Fiorio, M., Mariotti, C., Panzeri, M., Antonello, E., Classen, J. & Tinazzi, M., Apr 2014, In : Journal of Cognitive Neuroscience. 26, 4, p. 712-721 10 p.

Research output: Contribution to journalArticle

Ownership
Cerebellum
Hand
Rubber
experience

Very late-onset friedreich ataxia with laryngeal dystonia

Rota, S., Marchina, E., Todeschini, A., Nanetti, L., Rinaldi, F., Vanotti, A., Mariotti, C., Padovani, A. & Filosto, M., Feb 6 2014, In : Case Reports in Neurology. 6, 3, p. 287-290 4 p.

Research output: Contribution to journalArticle

Friedreich Ataxia
Dystonia
Ataxia
Adenine
Guanine
2013

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: Analysis of baseline data

Jacobi, H., Reetz, K., du Montcel, S. T., Bauer, P., Mariotti, C., Nanetti, L., Rakowicz, M., Sulek, A., Durr, A., Charles, P., Filla, A., Antenora, A., Schöls, L., Schicks, J., Infante, J., Kang, J. S., Timmann, D., Fabio, R. D., Masciullo, M., Baliko, L. & 7 others, Melegh, B., Boesch, S., Bürk, K., Peltz, A., Schulz, J. B., Dufaure-Garé, I. & Klockgether, T., Jul 2013, In : The Lancet Neurology. 12, 7, p. 650-658 9 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Longitudinal Studies
Mutation
Ataxia
Age of Onset

Blood pressure during nocturnal sleep in headache

Lovati, C., D'Amico, D., Giani, L., Zardoni, M., Capiluppi, E., Mariotti, C., Scandiani, L., Bussone, G. & Mariani, C., Dec 2013, In : Minerva Medica. 104, 6, p. 605-611 7 p.

Research output: Contribution to journalArticle

Headache
Sleep
Blood Pressure
Migraine Disorders
Blood Pressure Monitors