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Research Output

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

2019

Corrigendum to “Secondary breast angiosarcoma: A multicentre retrospective survey by the national Italian association of breast surgeons (ANISC)” (The Breast (2019) 45 (56–60), (S0960977619300372), (10.1016/j.breast.2019.02.011))

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., Dec 2019, In : Breast. 48, 1 p.

Research output: Contribution to journalComment/debate

Open Access

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

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

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

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., 2019, In : Breast. 45, p. 56-60 5 p.

Research output: Contribution to journalArticle

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

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

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

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

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

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

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

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

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

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

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

2017

CADASIL: Treatment and Management Options

Bersano, A., Bedini, G., Oskam, J., Mariotti, C., Taroni, F., Baratta, S. & Parati, E. A., Sep 1 2017, In : Current Treatment Options in Neurology. 19, 9, 31.

Research output: Contribution to journalReview article

Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research

Sarro, L., Nanetti, L., Castaldo, A. & Mariotti, C., Sep 2 2017, In : Expert Review of Neurotherapeutics. 17, 9, p. 919-931 13 p.

Research output: Contribution to journalReview article

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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