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Caterina Mariotti

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H Jacobi; J-S Kang; O Kaut; L Baliko; P Charles; Alexandra Dürr; Roberto Fancellu; Alessandro Filla; Rolf Fimmers; Paola Giunti; M Küper; C Linnemann; Caterina Mariotti; Béla Melegh; Maria Rakowicz; Rafal Rola; C Schaub; Ludger Schöls; Dagmar Timmann; Bart P C van de Warrenburg; Thomas Klockgether
Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument.
Kathrin Reetz; Ludger Schöls; Jörg B Schulz; Dagmar Timmann; Bart P C van de Warrenburg; Peter Bauer; Romana Boguslawska; Ana S Costa; Alexandra Dürr; Marina Grisoli; Till-Karsten Hauser; Heike Jacobi; Agnes Juzek; Thomas Klockgether; Anna Lehmann; Christoph Linnemann; Caterina Mariotti; Shahram Mirzazade; Massimo Pandolfo; Maria Rakowicz
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
Cinzia Gellera; Giuseppe Lauria; Barbara Castellotti; Alessia Castucci; lorenzo nanetti; Viviana Pensato; Vincenzo Silani; Franco Taroni; Nicola Ticozzi; Caterina Mariotti
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

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All Publications

2013: H Jacobi; J-S Kang; O Kaut; L Baliko; P Charles; Alexandra Dürr; Roberto Fancellu; Alessandro Filla; Rolf Fimmers; Paola Giunti; M Küper; C Linnemann; Caterina Mariotti; Béla Melegh; Maria Rakowicz; Rafal Rola; C Schaub; Ludger Schöls; Dagmar Timmann; Bart P C van de Warrenburg; Thomas Klockgether
Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument.
Cerebellum (London, England) 2013;12(3):418-28.
2013: Kathrin Reetz; Ludger Schöls; Jörg B Schulz; Dagmar Timmann; Bart P C van de Warrenburg; Peter Bauer; Romana Boguslawska; Ana S Costa; Alexandra Dürr; Marina Grisoli; Till-Karsten Hauser; Heike Jacobi; Agnes Juzek; Thomas Klockgether; Anna Lehmann; Christoph Linnemann; Caterina Mariotti; Shahram Mirzazade; Massimo Pandolfo; Maria Rakowicz
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
Brain : a journal of neurology 2013;136(Pt 3):905-17.
2012: Cinzia Gellera; Giuseppe Lauria; Barbara Castellotti; Alessia Castucci; lorenzo nanetti; Viviana Pensato; Vincenzo Silani; Franco Taroni; Nicola Ticozzi; Caterina Mariotti
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.
Neurobiology of aging 2012;33(8):1847.e15-21.
2012: Stefano Camnasio; Valentina Castiglioni; Alessia Castucci; Ida Biunno; Stefano Di Donato; Giuseppe Diaferia; Anis Feki; Cinzia Gellera; Iwona Grad; Outi Hovatta; Marisa E Jaconi; Angelo Lombardo; Caterina Mariotti; Luigi Naldini; Christelle Rochon; Björn Rozell; Austin Smith; Yasuhiro Takashima; Chiara Zuccato; Alessia Delli Carri; Pietro Lo Riso; Elena Cattaneo
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.
Neurobiology of disease 2012;46(1):41-51.
2012: Caterina Mariotti; lorenzo nanetti; Massimo Plumari; Alessandra Solari; Serena Caldarazzo; Maria D Cappellini; Daniela Di Bella; Lorena Duca; Roberto Fancellu; Giuseppe Lauria; Franco Taroni
Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial.
Movement disorders : official journal of the Movement Disorder Society 2012;27(3):446-9.
2012: Ettore Salsano; Silvia M Sirchia; Silvia Tabano; Barbara Castellotti; Patrizia Colapietro; Cinzia Gellera; Caterina Mariotti; Monica Miozzo; Davide Pareyson; Viviana Pensato; Monica Rimoldi; G Uziel
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
Orphanet journal of rare diseases 2012;7():10.
2011: R Bassani; Marina Grisoli; Caterina Mariotti; lorenzo nanetti; Davide Pareyson; M Savoiardo; Ettore Salsano
Pendular nystagmus in progressive ataxia and palatal tremor.
Journal of neurology 2011;258(10):1877-9.
2011: Barbara Castellotti; Daniela Di Bella; Stefano Di Donato; Roberto Fancellu; Sara Caimi; Caterina Mariotti; Isabella Moroni; Nardo Nardocci; Davide Pareyson; Massimo Plumari; M Rimoldi; Franco Taroni; Graziella Uziel; Giovanna Zorzi; Cinzia Gellera
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Neurogenetics 2011;12(3):193-201.
2011: Ettore Salsano; Roberto Fancellu; Giuseppe Di Fede; Claudia Ciano; Vidmer Scaioli; lorenzo nanetti; Letterio Salvatore Politi; Fabrizio Tagliavini; Caterina Mariotti; Davide Pareyson
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu.
Journal of the neurological sciences 2011;302(1-2):85-8.
2011: Chiara Zuccato; Anne Catherine Bachoud-Lèvi; Andrea Ciammola; Stefano Di Donato; Nayana Lahiri; Caterina Mariotti; Manuela Marullo; Jenny Sassone; Sarah J Tabrizi; Alessia Tarditi; Marta Valenza; Barbara Vitali; Edward J Wild; Elena Cattaneo
Brain-derived neurotrophic factor in patients with Huntington's disease.
PloS one 2011;6(8):e22966.
2010: Tanja Schmitz-Hübsch; Mathieu Coudert; Paola Giunti; Christoph Globas; Laszlo Baliko; Roberto Fancellu; Caterina Mariotti; Alessandro Filla; Maria Rakowicz; Perrine Charles; Pascale Ribai; Sandra Szymanski; Jon Infante; Bart P C van de Warrenburg; Alexandra Dürr; Dagmar Timmann; Sylvia Boesch; Rafal Rola; Chantal Depondt; Ludger Schöls; Elzbieta Zdzienicka; Jun-Suk Kang; Susanne Ratzka; Berry Kremer; Jörg B Schulz; Thomas Klopstock; Béla Melegh; Sophie Tezenas du Montcel; Thomas Klockgether
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.
Movement disorders : official journal of the Movement Disorder Society 2010;25(5):587-95.
2010: Tanja Schmitz-Hübsch; Rolf Fimmers; Maria Rakowicz; Rafal Rola; Elzbieta Zdzienicka; Roberto Fancellu; Caterina Mariotti; C Linnemann; Ludger Schöls; Dagmar Timmann; A Filla; E Salvatore; Jon Infante; Paola Giunti; R Labrum; B Kremer; Bart P C van de Warrenburg; L Baliko; Béla Melegh; C Depondt; J Schulz; Sophie Tezenas du Montcel; Thomas Klockgether
Responsiveness of different rating instruments in spinocerebellar ataxia patients.
Neurology 2010;74(8):678-84.
2010: Manuela Marullo; Chiara Zuccato; Caterina Mariotti; Nayana Lahiri; Sarah J Tabrizi; Stefano Di Donato; Elena Cattaneo
Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data.
Genome biology 2010;11(1):R9.
2010: Jörg B Schulz; Johannes Borkert; Stefanie Wolf; Tanja Schmitz-Hübsch; Maryla Rakowicz; Caterina Mariotti; Ludger Schöls; Ludger Schoels; Dagmar Timmann; Bart van de Warrenburg; Alexandra Dürr; Massimo Pandolfo; Jun-Suk Kang; Andrés González Mandly; Thomas Nägele; Marina Grisoli; Romana Boguslawska; Peter Bauer; Thomas Klockgether; Till-Karsten Hauser
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.
NeuroImage 2010;49(1):158-68.
2010: Manuela Marullo; Marta Valenza; Caterina Mariotti; Stefano Di Donato; Elena Cattaneo; Chiara Zuccato
Analysis of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy of non-neuronal genes in peripheral lymphocytes from patients with Huntington's disease.
Brain pathology (Zurich, Switzerland) 2010;20(1):96-105.
2009: lorenzo nanetti; Roberto Fancellu; Chiara Tomasello; Cinzia Gellera; Davide Pareyson; Caterina Mariotti
Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.
Journal of neurology 2009;256(11):1926-8.
2009: Roberto Fancellu; Davide Pareyson; Elena Corsini; Ettore Salsano; Matilde Laurà; Gaetano Bernardi; Carlo Antozzi; Francesca Andreetta; Maurizio Colecchia; Stefano Di Donato; Caterina Mariotti
Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia.
European neurology 2009;62(6):356-61.
2008: Tanja Schmitz-Hübsch; Paola Giunti; D A Stephenson; Christoph Globas; L Baliko; F Saccà; Caterina Mariotti; Maria Rakowicz; Sandra Szymanski; Jon Infante; Bart P C van de Warrenburg; Dagmar Timmann; Roberto Fancellu; Rafal Rola; C Depondt; Ludger Schöls; Elzbieta Zdzienicka; J-S Kang; S Döhlinger; B Kremer; Béla Melegh; A Filla; Thomas Klockgether
SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.
Neurology 2008;71(7):486-92.
2007: Maria Luisa Mandelli; Tiziana De Simone; Ludovico Minati; Maria Grazia Bruzzone; Caterina Mariotti; Roberto Fancellu; Mario Savoiardo; Marina Grisoli
Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2.
AJNR. American journal of neuroradiology 2007;28(10):1996-2000.
2007: Caterina Mariotti; Dario Alpini; Roberto Fancellu; Paola Soliveri; Marina Grisoli; Sabrina Ravaglia; Carlo Lovati; Vincenza Fetoni; Giorgio Giaccone; Alessia Castucci; Franco Taroni; Cinzia Gellera; Stefano Di Donato
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
Journal of neurology 2007;254(11):1538-46.
2007: Cinzia Gellera; Barbara Castellotti; Caterina Mariotti; Rossana Mineri; Viviana Seveso; Stefano DiDonato; Franco Taroni
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Neurogenetics 2007;8(4):289-99.
2007: Marta Valenza; Valerio Leoni; Alessia Tarditi; Caterina Mariotti; Ingeman Björkhem; Stefano Di Donato; Elena Cattaneo
Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington's disease.
Neurobiology of disease 2007;28(1):133-42.
2007: Natalia Battista; Monica Bari; Alessia Tarditi; Caterina Mariotti; Anne-Catherine Bachoud-Lévi; Chiara Zuccato; Alessandro Finazzi-Agrò; Silvia Genitrini; Marc Peschanski; Stefano Di Donato; Elena Cattaneo; Mauro Maccarrone
Severe deficiency of the fatty acid amide hydrolase (FAAH) activity segregates with the Huntington's disease mutation in peripheral lymphocytes.
Neurobiology of disease 2007;27(1):108-16.
2007: Katia Varani; Anne-Catherine Bachoud-Lévi; Caterina Mariotti; Alessia Tarditi; Maria P Abbracchio; V Gasperi; Pier Andrea Borea; Guillaume Dolbeau; Cinzia Gellera; A Solari; A Rosser; J Naji; O Handley; Mauro Maccarrone; Marc Peschanski; Stefano DiDonato; Elena Cattaneo
Biological abnormalities of peripheral A(2A) receptors in a large representation of polyglutamine disorders and Huntington's disease stages.
Neurobiology of disease 2007;27(1):36-43.
2006: Tanja Schmitz-Hübsch; Sophie Tezenas du Montcel; L Baliko; José Berciano; Sylvia Boesch; C Depondt; Paola Giunti; Christoph Globas; Jon Infante; J-S Kang; B Kremer; Caterina Mariotti; Béla Melegh; M Pandolfo; Maria Rakowicz; P Ribai; Rafal Rola; Ludger Schöls; Sandra Szymanski; Bart P C van de Warrenburg; Alexandra Dürr; Thomas Klockgether; Roberto Fancellu
Scale for the assessment and rating of ataxia: development of a new clinical scale.
Neurology 2006;66(11):1717-20.
2006: Tanja Schmitz-Hübsch; Sophie Tezenas du Montcel; Laszlo Baliko; Sylvia Boesch; Sara Bonato; Roberto Fancellu; Paola Giunti; Christoph Globas; Jun-Suk Kang; Berry Kremer; Caterina Mariotti; Béla Melegh; Maria Rakowicz; Rafal Rola; Silvia Romano; Ludger Schöls; Sandra Szymanski; Bart P C van de Warrenburg; Elzbieta Zdzienicka; Alexandra Dürr; Thomas Klockgether
Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients.
Movement disorders : official journal of the Movement Disorder Society 2006;21(5):699-704.
2006: Claudia Cagnoli; Caterina Mariotti; Franco Taroni; Marco Seri; Alessandro Brussino; Chiara Michielotto; Marina Grisoli; Daniela Di Bella; Nicola Migone; Cinzia Gellera; Stefano Di Donato; Alfredo Brusco
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
Brain : a journal of neurology 2006;129(Pt 1):235-42.
2005: Marta Valenza; Dorotea Rigamonti; Donato Goffredo; Chiara Zuccato; Simone Fenu; Laure Jamot; Andrew D Strand; Alessia Tarditi; Ben Woodman; Marco Racchi; Caterina Mariotti; Stefano Di Donato; Alberto Corsini; Gillian P Bates; Rebecca PRUSS; James M Olson; Simonetta Sipione; Marzia Tartari; Elena Cattaneo
Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(43):9932-9.
2005: Caterina Mariotti; Roberto Fancellu; Stefano Di Donato
An overview of the patient with ataxia.
Journal of neurology 2005;252(5):511-8.
2005: Alessandro Brussino; Cinzia Gellera; Alessandro Saluto; Caterina Mariotti; Carlo Arduino; Barbara Castellotti; M Camerlingo; V de Angelis; Laura Orsi; P Tosca; Nicola Migone; Franco Taroni; Alfredo Brusco
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.
Neurology 2005;64(1):145-7.
2004: Patrick F Chinnery; Salvatore DiMauro; Sara Shanske; Eric A Schon; Massimo Zeviani; Caterina Mariotti; Franco Carrara; Anne Lombes; Pascal Laforet; Helène Ogier; Michaela Jaksch; Hanns Lochmüller; Rita Horvath; Marcus Deschauer; David R Thorburn; Laurence A Bindoff; Joanna Poulton; Robert W Taylor; J N S Matthews; Douglass M Turnbull
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Caterina Mariotti; Cinzia Gellera; M Rimoldi; Rossana Mineri; Graziella Uziel; G Zorzi; Davide Pareyson; G Piccolo; D Gambi; Sylvie Piacentini; Ferdinando Squitieri; R Capra; Barbara Castellotti; Stefano Di Donato
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2004;25(3):130-7.
2004: Alfredo Brusco; Cinzia Gellera; Claudia Cagnoli; Alessandro Saluto; Alessia Castucci; Chiara Michielotto; Vincenza Fetoni; Caterina Mariotti; Nicola Migone; Stefano Di Donato; Franco Taroni
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Archives of neurology 2004;61(5):727-33.
2003: Katia Varani; Maria P Abbracchio; Milena Cannella; giuliana cislaghi; Patrizia Giallonardo; Caterina Mariotti; Elena Cattabriga; Flaminio Nicola Cattabeni; Pier Andrea Borea; Ferdinando Squitieri; Elena Cattaneo
Aberrant A2A receptor function in peripheral blood cells in Huntington's disease.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003;17(14):2148-50.
2003: Caterina Mariotti; Francesco Feliciotti; Maddalena Baldarelli; L Serri; Alfredo Santinelli; Guidalberto Fabris; Mariagrazia Baccarini; S Maggi; L Angelini; M De Marco; Emanuele Lezoche
Digital stereotactic biopsies for nonpalpable breast lesion.
Surgical endoscopy 2003;17(6):911-7.
2003: Caterina Mariotti; A Solari; Daniela Torta; Lidia Marano; Cesare Fiorentini; Stefano Di Donato
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.
Neurology 2003;60(10):1676-9.
2003: Ferdinando Squitieri; Cinzia Gellera; Milena Cannella; Caterina Mariotti; giuliana cislaghi; David C Rubinsztein; Elisabeth W Almqvist; David Turner; Anne-Catherine Bachoud-Lévi; Sheila A Simpson; Martin B Delatycki; Vittorio Maglione; Michael R Hayden; Stefano Di Donato
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.
Brain : a journal of neurology 2003;126(Pt 4):946-55.
2002: Paola Soliveri; Daniela Monza; Sylvie Piacentini; D Paridi; C Nespolo; Cinzia Gellera; Caterina Mariotti; Alberto Albanese; Floriano Girotti
Cognitive and psychiatric characterization of patients with Huntington's disease and their at-risk relatives.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S105-6.
2002: Lucia Angelini; Anna Erba; Caterina Mariotti; Cinzia Gellera; Claudia Ciano; Nardo Nardocci
Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
Movement disorders : official journal of the Movement Disorder Society 2002;17(3):612-4.
2002: P Corona; Eleonora Lamantea; M Greco; Franco Carrara; Alessandro Agostino; Donata Guidetti; Maria Teresa Dotti; Caterina Mariotti; Massimo Zeviani
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
Annals of neurology 2002;51(1):118-22.
2002: Eleonora Lamantea; Franco Carrara; Caterina Mariotti; Lucia Morandi; Valeria Tiranti; Massimo Zeviani
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.
Neuromuscular disorders : NMD 2002;12(1):49-52.
2001: Caterina Mariotti; Stefano Di Donato
Cerebellar/spinocerebellar syndromes.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22 Suppl 2():S88-92.
2001: Ferdinando Squitieri; Milena Cannella; Patrizia Giallonardo; Vittorio Maglione; Caterina Mariotti; Michael R Hayden
Onset and pre-onset studies to define the Huntington's disease natural history.
Brain research bulletin 2001;56(3-4):233-8.
2001: Caterina Mariotti; Cinzia Gellera; Marina Grisoli; Rossana Mineri; Alessia Castucci; Stefano Di Donato
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.
Neurology 2001;57(8):1502-4.
2001: Stefano Di Donato; Cinzia Gellera; Caterina Mariotti
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(3):219-28.
2001: Cinzia Gellera; Barbara Castellotti; Marilisa Riggio; V Silani; L Morandi; Daniela Testa; C Casali; Franco Taroni; Stefano Di Donato; Massimo Zeviani; Caterina Mariotti
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
Neuromuscular disorders : NMD 2001;11(4):404-10.
2000: Caterina Mariotti; Barbara Castellotti; Davide Pareyson; Daniela Testa; Marica Eoli; C Antozzi; V Silani; R Marconi; F Tezzon; G Siciliano; C Marchini; Cinzia Gellera; S D Donato
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.
Neuromuscular disorders : NMD 2000;10(6):391-7.
2000: Ferdinando Squitieri; A Berardelli; E Nargi; Barbara Castellotti; Caterina Mariotti; Milena Cannella; M L Lavitrano; U de Grazia; Cinzia Gellera; S Ruggieri
Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis.
Clinical genetics 2000;58(1):50-6.
2000: Angelo Sghirlanzoni; Alessandra Solari; Claudia Ciano; Caterina Mariotti; E Fallica; Davide Pareyson
Chronic inflammatory demyelinating polyradiculoneuropathy: long-term course and treatment of 60 patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(1):31-7.
2000: Alessandro Filla; Caterina Mariotti; G Caruso; Giangennaro Coppola; Sergio Cocozza; Imma Castaldo; O Calabrese; Elena Salvatore; Giuseppe De Michele; Marilisa Riggio; Davide Pareyson; Cinzia Gellera; Stefano Di Donato
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.
European neurology 2000;44(1):31-6.
1999: Davide Pareyson; Cinzia Gellera; Barbara Castellotti; A Antonelli; Marilisa Riggio; F Mazzucchelli; Floriano Girotti; Vladimiro Pietrini; Caterina Mariotti; Stefano Di Donato
Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.
Journal of neurology 1999;246(5):389-93.