Works by Mariotti, Caterina

Results: 108

May migraine attack response to triptans be a predictor of the efficacy of Onabotulinum toxin-A prophylaxis?

Published in:

2018

By:

Lovati, Carlo;
Giani, Luca;
Mariotti D′Alessandro, Caterina;
Tabaee Damavandi, Payam;
Mariani, Claudio;
Pantoni, Leonardo;
Mariotti D Alessandro, Caterina

Publication type:

journal article

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.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 412, doi. 10.3390/jcm9020412

By:

Pensato, Viviana;
Magri, Stefania;
Dalla Bella, Eleonora;
Tannorella, Pierpaola;
Bersano, Enrica;
Sorarù, Gianni;
Gatti, Marta;
Ticozzi, Nicola;
Taroni, Franco;
Lauria, Giuseppe;
Mariotti, Caterina;
Gellera, Cinzia

Publication type:

Article

Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.

Published in:

Cerebellum, 2024, v. 23, n. 4, p. 1466, doi. 10.1007/s12311-024-01657-2

By:

Weber, Niklas;
Buchholz, Maresa;
Rädke, Anika;
Faber, Jennifer;
Schmitz-Hübsch, Tanja;
Jacobi, Heike;
Klockgether, Thomas;
Hoffmann, Wolfgang;
Michalowsky, Bernhard;
du Montcel, Sophie Tezenas;
Bauer, Peter;
Giunti, Paola;
Cook, Arron;
Labrum, Robyn;
Parkinson, Michael H.;
Durr, Alexandra;
Brice, Alexis;
Charles, Perrine;
Marelli, Cecilia;
Mariotti, Caterina

Publication type:

Article

Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 1020, doi. 10.1007/s12311-023-01597-3

By:

Buchholz, Maresa;
Weber, Niklas;
Rädke, Anika;
Faber, Jennifer;
Schmitz-Hübsch, Tanja;
Jacobi, Heike;
Xie, Feng;
Klockgether, Thomas;
Michalowsky, Bernhard;
du Montcel, Sophie Tezenas;
Bauer, Peter;
Giunti, Paola;
Cook, Arron;
Labrum, Robyn;
Parkinson, Michael H.;
Durr, Alexandra;
Brice, Alexis;
Charles, Perrine;
Marelli, Cecilia;
Mariotti, Caterina

Publication type:

Article

Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 946, doi. 10.1007/s12311-023-01589-3

By:

Öz, Gülin;
Cocozza, Sirio;
Henry, Pierre-Gilles;
Lenglet, Christophe;
Deistung, Andreas;
Faber, Jennifer;
Schwarz, Adam J.;
Timmann, Dagmar;
Van Dijk, Koene R. A.;
Harding, Ian H.;
Adarmes-Gómez, Astrid;
Thieme, Andreas;
Reetz, Kathrin;
Rylski, Marcin;
Rezende, Thiago JR;
Gennarino, Vincenzo A.;
Ratai, Eva-Maria;
Mariotti, Caterina;
Nigri, Anna;
Nanetti, Lorenzo

Publication type:

Article

MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 931, doi. 10.1007/s12311-023-01572-y

By:

Öz, Gülin;
Cocozza, Sirio;
Henry, Pierre-Gilles;
Lenglet, Christophe;
Deistung, Andreas;
Faber, Jennifer;
Schwarz, Adam J.;
Timmann, Dagmar;
Van Dijk, Koene R. A.;
Harding, Ian H.;
Adarmes-Gomez, Astrid;
Thieme, Andreas;
Reetz, Kathrin;
Rylski, Marcin;
Rezende, Thiago JR;
Gennarino, Vincenzo A.;
Ratai, Eva-Maria;
Mariotti, Caterina;
Nigri, Anna;
Nanetti, Lorenzo

Publication type:

Article

SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.

Published in:

Cerebellum, 2024, v. 23, n. 3, p. 887, doi. 10.1007/s12311-023-01546-0

By:

Uebachs, Mischa;
Wegner, Philipp;
Schaaf, Sebastian;
Kugai, Simon;
Jacobi, Heike;
Kuo, Sheng-Han;
Ashizawa, Tetsuo;
Fluck, Juliane;
du Montcel, Sophie Tezenas;
Bauer, Peter;
Giunti, Paola;
Cook, Arron;
Labrum, Robyn;
Parkinson, Michael H.;
Durr, Alexandra;
Brice, Alexis;
Charles, Perrine;
Marelli, Cecilia;
Mariotti, Caterina;
Nanetti, Lorenzo

Publication type:

Article

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

Published in:

Cerebellum, 2022, v. 21, n. 1, p. 133, doi. 10.1007/s12311-021-01285-0

By:

Nigri, Anna;
Sarro, Lidia;
Mongelli, Alessia;
Castaldo, Anna;
Porcu, Luca;
Pinardi, Chiara;
Grisoli, Marina;
Ferraro, Stefania;
Canafoglia, Laura;
Visani, Elisa;
Bruzzone, Maria Grazia;
Nanetti, Lorenzo;
Taroni, Franco;
Mariotti, Caterina

Publication type:

Article

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.

Published in:

Cerebellum, 2012, v. 11, n. 1, p. 155, doi. 10.1007/s12311-011-0292-z

By:

Jacobi, Heike;
Hauser, Till-Karsten;
Giunti, Paola;
Globas, Christoph;
Bauer, Peter;
Schmitz-Hübsch, Tanja;
Baliko, László;
Filla, Alessandro;
Mariotti, Caterina;
Rakowicz, Maria;
Charles, Perine;
Ribai, Pascale;
Szymanski, Sandra;
Infante, Jon;
Warrenburg, Bart;
Dürr, Alexandra;
Timmann, Dagmar;
Boesch, Sylvia;
Fancellu, Roberto;
Rola, Rafal

Publication type:

Article

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

Published in:

Cerebellum, 2008, v. 7, n. 2, p. 184, doi. 10.1007/s12311-008-0053-9

By:

Mariotti, Caterina;
Brusco, Alfredo;
Bella, Daniela;
Cagnoli, Claudia;
Seri, Marco;
Gellera, Cinzia;
Donato, Stefano;
Taroni, Franco

Publication type:

Article

Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

Published in:

2022

By:

Nguyen, Quang Tuan Rémy;
Ortigoza Escobar, Juan Dario;
Burgunder, Jean-Marc;
Mariotti, Caterina;
Saft, Carsten;
Hjermind, Lena Elisabeth;
Youssov, Katia;
Landwehrmeyer, G. Bernhard;
Bachoud-Lévi, Anne-Catherine

Publication type:

Correction Notice

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.817753

By:

Nguyen, Quang Tuan Rémy;
Ortigoza Escobar, Juan Dario;
Burgunder, Jean-Marc;
Mariotti, Caterina;
Saft, Carsten;
Hjermind, Lena Elisabeth;
Youssov, Katia;
Landwehrmeyer, G. Bernhard;
Bachoud-Lévi, Anne-Catherine

Publication type:

Article

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.817753

By:

Nguyen, Quang Tuan Rémy;
Ortigoza Escobar, Juan Dario;
Burgunder, Jean-Marc;
Mariotti, Caterina;
Saft, Carsten;
Hjermind, Lena Elisabeth;
Youssov, Katia;
Landwehrmeyer, G. Bernhard;
Bachoud-Lévi, Anne-Catherine

Publication type:

Article

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

Published in:

2022

By:

Nanetti, Lorenzo;
Di Bella, Daniela;
Magri, Stefania;
Fichera, Mario;
Sarto, Elisa;
Castaldo, Anna;
Mongelli, Alessia;
Baratta, Silvia;
Fenu, Silvia;
Moscatelli, Marco;
Bonati, Maria Teresa;
Martinuzzi, Andrea;
Mariotti, Caterina;
Taroni, Franco

Publication type:

Case Study

Onset features and time to diagnosis in Friedreich's Ataxia.

Published in:

2020

By:

Indelicato, Elisabetta;
Nachbauer, Wolfgang;
Eigentler, Andreas;
Amprosi, Matthias;
Matteucci Gothe, Raffaella;
Giunti, Paola;
Mariotti, Caterina;
Arpa, Javier;
Durr, Alexandra;
Klopstock, Thomas;
Schöls, Ludger;
Giordano, Ilaria;
Bürk, Katrin;
Pandolfo, Massimo;
Didszdun, Claire;
Schulz, Jörg B.;
Boesch, Sylvia;
EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)

Publication type:

journal article

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

Published in:

Movement Disorders, 2023, v. 38, n. 4, p. 665, doi. 10.1002/mds.29352

By:

Nanetti, Lorenzo;
Magri, Stefania;
Fichera, Mario;
Castaldo, Anna;
Nigri, Anna;
Pinardi, Chiara;
Mongelli, Alessia;
Sarro, Lidia;
Pareyson, Davide;
Grisoli, Marina;
Gellera, Cinzia;
Di Bella, Daniela;
Mariotti, Caterina;
Taroni, Franco

Publication type:

Article

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension.

Published in:

Movement Disorders, 2023, v. 38, n. 2, p. 313, doi. 10.1002/mds.29286

By:

Lynch, David R.;
Chin, Melanie P.;
Boesch, Sylvia;
Delatycki, Martin B.;
Giunti, Paola;
Goldsberry, Angie;
Hoyle, J. Chad;
Mariotti, Caterina;
Mathews, Katherine D.;
Nachbauer, Wolfgang;
O'Grady, Megan;
Perlman, Susan;
Subramony, S.H.;
Wilmot, George;
Zesiewicz, Theresa;
Meyer, Colin J.

Publication type:

Article

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Published in:

2019

By:

Diallo, Alhassane;
Jacobi, Heike;
Cook, Arron;
Giunti, Paola;
Parkinson, Michael H.;
Labrum, Robyn;
Durr, Alexandra;
Brice, Alexis;
Charles, Perrine;
Marelli, Cecilia;
Mariotti, Caterina;
Nanetti, Lorenzo;
Panzeri, Marta;
Castaldo, Anna;
Rakowicz, Maria;
Rola, Rafal;
Sulek, Anna;
Schmitz‐Hübsch, Tanja;
Schöls, Ludger;
Hengel, Holger

Publication type:

journal article

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.

Published in:

Movement Disorders, 2014, v. 29, n. 7, p. 935, doi. 10.1002/mds.25836

By:

Boesch, Sylvia;
Nachbauer, Wolfgang;
Mariotti, Caterina;
Sacca, Francesco;
Filla, Alessandro;
Klockgether, Thomas;
Klopstock, Thomas;
Schöls, Ludger;
Jacobi, Heike;
Büchner, Boriana;
Hagen, Jennifer Müller;
Nanetti, Lorenzo;
Manicom, Karen

Publication type:

Article

Safety and Tolerability of Carbamylated Erythropoietin in Friedreich's Ataxia.

Published in:

Movement Disorders, 2014, v. 29, p. 935, doi. 10.1002/mds.25836

By:

Boesch, Sylvia;
Nachbauer, Wolfgang;
Mariotti, Caterina;
Sacca, Francesco;
Filla, Alessandro;
Klockgether, Thomas;
Klopstock, Thomas;
Schöls, Ludger;
Jacobi, Heike;
Büchner, Boriana;
Müller vom Hagen, Jennifer;
Nanetti, Lorenzo;
Manicom, Karen

Publication type:

Article

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

Published in:

Movement Disorders, 2012, v. 27, n. 3, p. 446, doi. 10.1002/mds.24066

By:

Mariotti, Caterina;
Fancellu, Roberto;
Caldarazzo, Serena;
Nanetti, Lorenzo;
Di Bella, Daniela;
Plumari, Massimo;
Lauria, Giuseppe;
Cappellini, Maria D.;
Duca, Lorena;
Solari, Alessandra;
Taroni, Franco

Publication type:

Article

Depression comorbidity in spinocerebellar ataxia.

Published in:

Movement Disorders, 2011, v. 26, n. 5, p. 870, doi. 10.1002/mds.23698

By:

Schmitz-Hübsch, Tanja;
Coudert, Mathieu;
Tezenas du Montcel, Sophie;
Giunti, Paola;
Labrum, Robyn;
Dürr, Alexandra;
Ribai, Pascale;
Charles, Perrine;
Linnemann, Christoph;
Schöls, Ludger;
Rakowicz, Maryla;
Rola, Rafal;
Zdzienicka, Elszbieta;
Fancellu, Roberto;
Mariotti, Caterina;
Baliko, Lazlo;
Melegh, Bela;
Filla, Alessandro;
Salvatore, Elena;
van de Warrenburg, Bart P.C.

Publication type:

Article

Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study.

Published in:

Movement Disorders, 2010, v. 25, n. 5, p. 587, doi. 10.1002/mds.22740

By:

Schmitz-Hübsch, Tanja;
Coudert, Mathieu;
Giunti, Paola;
Globas, Christoph;
Baliko, Laszlo;
Fancellu, Roberto;
Mariotti, Caterina;
Filla, Alessandro;
Rakowicz, Maryla;
Charles, Perrine;
Ribai, Pascale;
Szymanski, Sandra;
Infante, Jon;
van de Warrenburg, Bart P.C.;
Dürr, Alexandra;
Timmann, Dagmar;
Boesch, Sylvia;
Rola, Rafal;
Depondt, Chantal;
Schöls, Ludger

Publication type:

Article

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.

Published in:

Movement Disorders, 2008, v. 23, n. 15, p. 2232, doi. 10.1002/mds.22288

By:

Globas, Christoph;
du Montcel, Sophie Tezenas;
Baliko, Laslo;
Boesch, Syliva;
Depondt, Chantal;
DiDonato, Stefano;
Durr, Alexandra;
Filla, Alessandro;
Klockgether, Thomas;
Mariotti, Caterina;
Melegh, Bela;
Rakowicz, Maryla;
Ribai, Pascale;
Rola, Rafal;
Schmitz-Hubsch, Tanja;
Szymanski, Sandra;
Timmann, Dagmar;
Van de Warrenburg, Bart P.;
Bauer, Peter;
Schols, Ludger

Publication type:

Article

Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients.

Published in:

Movement Disorders, 2006, v. 21, n. 5, p. 699, doi. 10.1002/mds.20781

By:

Schmitz-Hübsch, Tanja;
Tezenas du Montcel, Sophie;
Baliko, Laszlo;
Boesch, Sylvia;
Bonato, Sara;
Fancellu, Roberto;
Giunti, Paola;
Globas, Christoph;
Kang, Jun-Suk;
Kremer, Berry;
Mariotti, Caterina;
Melegh, Bela;
Rakowicz, Maryla;
Rola, Rafal;
Romano, Sylvie;
Schöls, Lodger;
Szymanski, Sandra;
van de Warrenburg, Bart P.C.;
Zdzienicka, Elzbieta;
Dürr, Alexandra

Publication type:

Article

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

Published in:

Experimental Brain Research, 2015, v. 233, n. 1, p. 197, doi. 10.1007/s00221-014-4103-x

By:

Bruttini, Carlo;
Esposti, Roberto;
Bolzoni, Francesco;
Vanotti, Alessandra;
Mariotti, Caterina;
Cavallari, Paolo

Publication type:

Article

Italian cross-cultural adaptation of the patient-reported outcome measure of ataxia.

Published in:

Neurological Sciences, 2023, v. 44, n. 8, p. 2773, doi. 10.1007/s10072-023-06714-y

By:

Castaldo, Anna;
Farinotti, Mariangela;
Fichera, Mario;
Nanetti, Lorenzo;
Fortuna, Filippo;
Mariotti, Caterina;
Solari, Alessandra

Publication type:

Article

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.

Published in:

2022

By:

Fichera, Mario;
Castaldo, Anna;
Mongelli, Alessia;
Marchini, Gloria;
Gellera, Cinzia;
Nanetti, Lorenzo;
Mariotti, Caterina

Publication type:

journal article

Ketogenic diet in refractory migraine: possible efficacy and role of ketone bodies-a pilot experience.

Published in:

2022

By:

Lovati, Carlo;
d'Alessandro, Caterina Mariotti;
Ventura, Stefania Della;
Muzio, Fulvio;
Pantoni, Leonardo

Publication type:

journal article

Deep brain stimulation in Huntington's disease: a literature review.

Published in:

Neurological Sciences, 2021, v. 42, n. 11, p. 4447, doi. 10.1007/s10072-021-05527-1

By:

Bonomo, Roberta;
Elia, Antonio E.;
Bonomo, Giulio;
Romito, Luigi M.;
Mariotti, Caterina;
Devigili, Grazia;
Cilia, Roberto;
Giossi, Riccardo;
Eleopra, Roberto

Publication type:

Article

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

Published in:

Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0

By:

Gatti, Marta;
Magri, Stefania;
Di Bella, Daniela;
Sarto, Elisa;
Taroni, Franco;
Mariotti, Caterina;
Nanetti, Lorenzo

Publication type:

Article

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

Published in:

2020

By:

Mongelli, Alessia;
Magri, Stefania;
Salvatore, Elena;
Rizzo, Elena;
De Rosa, Anna;
Fico, Tommasina;
Gatti, Marta;
Gellera, Cinzia;
Taroni, Franco;
Mariotti, Caterina;
Nanetti, Lorenzo

Publication type:

journal article

Late-onset Huntington's disease with 40-42 CAG expansion.

Published in:

2020

By:

Capiluppi, Elisa;
Romano, Luca;
Rebora, Paola;
Nanetti, Lorenzo;
Castaldo, Anna;
Gellera, Cinzia;
Mariotti, Caterina;
Macerollo, Antonella;
Cislaghi, M. Giuliana

Publication type:

journal article

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

Published in:

2016

By:

Querin, Giorgia;
DaRe, Elisa;
Martinelli, Ilaria;
Bello, Luca;
Bertolin, Cinzia;
Pareyson, Davide;
Mariotti, Caterina;
Pegoraro, Elena;
Sorarù, Gianni;
Sorarù, Gianni

Publication type:

journal article

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia.

Published in:

Case Reports in Neurology, 2014, v. 6, n. 3, p. 287, doi. 10.1159/000370062

By:

Rota, Silvia;
Marchina, Eleonora;
Todeschini, Alice;
Nanetti, Lorenzo;
Rinaldi, Fabrizio;
Vanotti, Alessandra;
Mariotti, Caterina;
Padovani, Alessandro;
Filosto, Massimiliano

Publication type:

Article

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 462, doi. 10.1038/sj.ejhg.5201995

By:

Bachetti, Tiziana;
Caroli, Francesco;
Bocca, Paola;
Prigione, Ignazia;
Balbi, Pietro;
Biancheri, Roberta;
Filocamo, Mirella;
Mariotti, Caterina;
Pareyson, Davide;
Ravazzolo, Roberto;
Ceccherini, Isabella

Publication type:

Article

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.

Published in:

Brain Pathology, 2010, v. 20, n. 1, p. 96, doi. 10.1111/j.1750-3639.2008.00249.x

By:

Marullo, Manuela;
Valenza, Marta;
Mariotti, Caterina;
Di Donato, Stefano;
Cattaneo, Elena;
Zuccato, Chiara

Publication type:

Article

Dysfunction of the Cholesterol Biosynthetic Pathway in Huntington's Disease.

Published in:

Journal of Neuroscience, 2005, v. 25, n. 43, p. 9932, doi. 10.1523/JNEUROSCI.3355-05.2005

By:

Valenza, Marta;
Rigamonti, Dorotea;
Goffredo, Donato;
Zuccato, Chiara;
Fenu, Simone;
Jamot, Laure;
Strand, Andrew;
Tarditi, Alessia;
Woodman, Ben;
Racchi, Marco;
Mariotti, Caterina;
Di Donato, Stefano;
Corsini, Alberto;
Bates, Gillian;
Pruss, Rebecca;
Olson, James M.;
Sipione, Simonetta;
Tartari, Marzia;
Cattaneo, Elena

Publication type:

Article

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

Published in:

Expert Review of Neurotherapeutics, 2017, v. 17, n. 9, p. 919, doi. 10.1080/14737175.2017.1364628

By:

Sarro, Lidia;
Nanetti, Lorenzo;
Castaldo, Anna;
Mariotti, Caterina

Publication type:

Article

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.

Published in:

Nature Genetics, 2011, v. 43, n. 3, p. 259, doi. 10.1038/ng.761

By:

Ghezzi, Daniele;
Arzuffi, Paola;
Zordan, Mauro;
Da Re, Caterina;
Lamperti, Costanza;
Benna, Clara;
D'Adamo, Pio;
Diodato, Daria;
Costa, Rodolfo;
Mariotti, Caterina;
Uziel, Graziella;
Smiderle, Cristina;
Zeviani, Massimo

Publication type:

Article

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

Published in:

Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544

By:

Di Bella, Daniela;
Lazzaro, Federico;
Brusco, Alfredo;
Plumari, Massimo;
Battaglia, Giorgio;
Pastore, Annalisa;
Finardi, Adele;
Cagnoli, Claudia;
Tempia, Filippo;
Frontali, Marina;
Veneziano, Liana;
Sacco, Tiziana;
Boda, Enrica;
Brussino, Alessandro;
Bonn, Florian;
Castellotti, Barbara;
Baratta, Silvia;
Mariotti, Caterina;
Gellera, Cinzia;
Fracasso, Valentina

Publication type:

Article

Prediction of the disease course in Friedreich ataxia.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23666-z

By:

Hohenfeld, Christian;
Terstiege, Ulrich;
Dogan, Imis;
Giunti, Paola;
Parkinson, Michael H.;
Mariotti, Caterina;
Nanetti, Lorenzo;
Fichera, Mario;
Durr, Alexandra;
Ewenczyk, Claire;
Boesch, Sylvia;
Nachbauer, Wolfgang;
Klopstock, Thomas;
Stendel, Claudia;
Rodríguez de Rivera Garrido, Francisco Javier;
Schöls, Ludger;
Hayer, Stefanie N.;
Klockgether, Thomas;
Giordano, Ilaria;
Didszun, Claire

Publication type:

Article

Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2010, doi. 10.1093/hmg/ddac005

By:

Quatrana, Andrea;
Morini, Elena;
Tiano, Francesca;
Vancheri, Chiara;
Panarello, Luca;
Romano, Silvia;
Marcotulli, Christian;
Casali, Carlo;
Mariotti, Caterina;
Mongelli, Alessia;
Fichera, Mario;
Rufini, Alessandra;
Condò, Ivano;
Novelli, Giuseppe;
Testi, Roberto;
Amati, Francesca;
Malisan, Florence

Publication type:

Article

Immunological Reactivity against Neuronal and Non-Neuronal Antigens in Sporadic Adult-Onset Cerebellar Ataxia.

Published in:

European Neurology, 2009, v. 62, n. 6, p. 356, doi. 10.1159/000242010

By:

Fancellu, Roberto;
Pareyson, Davide;
Corsini, Elena;
Salsano, Ettore;
Laurà, Matilde;
Bernardi, Gaetano;
Antozzi, Carlo;
Andreetta, Francesca;
Colecchia, Maurizio;
Di Donato, Stefano;
Mariotti, Caterina

Publication type:

Article

Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments.

Published in:

Journal of Neurology, 2023, v. 270, n. 11, p. 5408, doi. 10.1007/s00415-023-11804-0

By:

Horta-Barba, Andrea;
Martinez-Horta, Saul;
Pérez-Pérez, Jesús;
Puig-Davi, Arnau;
de Lucia, Natascia;
de Michele, Giuseppe;
Salvatore, Elena;
Kehrer, Stefanie;
Priller, Josef;
Migliore, Simone;
Squitieri, Ferdinando;
Castaldo, Anna;
Mariotti, Caterina;
Mañanes, Veronica;
Lopez-Sendon, Jose Luis;
Rodriguez, Noelia;
Martinez-Descals, Asunción;
Júlio, Filipa;
Januário, Cristina;
Delussi, Marianna

Publication type:

Article

Correction to: Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.

Published in:

2021

By:

Martinez-Horta, Saul;
Horta-Barba, Andrea;
Perez-Perez, Jesús;
Sampedro, Frederic;
de Lucia, Natascia;
De Michele, Giuseppe;
Kehrer, Stefanie;
Priller, Josef;
Migliore, Simone;
Squitieri, Ferdinando;
Castaldo, Anna;
Mariotti, Caterina;
Mañanes, Veronica;
Lopez-Sendon, Jose Luis;
Rodriguez, Noelia;
Martinez-Descals, Asunción;
Garcia-Ruiz, Pedro;
Júlio, Filipa;
Januário, Cristina;
Delussi, Marianna

Publication type:

Correction Notice

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

Published in:

Journal of Neurology, 2020, v. 267, n. 5, p. 1527, doi. 10.1007/s00415-020-09730-6

By:

Martinez-Horta, Saul;
Horta-Barba, Andrea;
Perez-Perez, Jesús;
Sampedro, Frederic;
de Lucia, Natascia;
De Michele, Giuseppe;
Kehrer, Stefanie;
Priller, Josef;
Migliore, Simone;
Squitieri, Ferdinando;
Castaldo, Anna;
Mariotti, Caterina;
Mañanes, Veronica;
Lopez-Sendon, Jose Luis;
Rodriguez, Noelia;
Martinez-Descals, Asunción;
Garcia-Ruiz, Pedro;
Júlio, Filipa;
Januário, Cristina;
Delussi, Marianna

Publication type:

Article

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

Published in:

Journal of Neurology, 2019, v. 266, n. 2, p. 378, doi. 10.1007/s00415-018-9141-z

By:

Nanetti, Lorenzo;
Sarto, Elisa;
Castaldo, Anna;
Magri, Stefania;
Mongelli, Alessia;
Rossi Sebastiano, Davide;
Canafoglia, Laura;
Grisoli, Marina;
Malaguti, Chiara;
Rivieri, Francesca;
D'Amico, Maria Chiara;
Di Bella, Daniela;
Franceschetti, Silvana;
Mariotti, Caterina;
Taroni, Franco

Publication type:

Article

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

Published in:

Journal of Neurology, 2018, v. 265, n. 9, p. 2040, doi. 10.1007/s00415-018-8954-0

By:

Jacobi, Heike;
du Montcel, Sophie Tezenas;
Bauer, Peter;
Giunti, Paola;
Cook, Arron;
Labrum, Robyn;
Parkinson, Michael H.;
Durr, Alexandra;
Brice, Alexis;
Charles, Perrine;
Marelli, Cecilia;
Mariotti, Caterina;
Nanetti, Lorenzo;
Sarro, Lidia;
Rakowicz, Maria;
Sulek, Anna;
Sobanska, Anna;
Schmitz-Hübsch, Tanja;
Schöls, Ludger;
Hengel, Holger

Publication type:

Article

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

Published in:

Journal of Neurology, 2016, v. 263, n. 2, p. 245, doi. 10.1007/s00415-015-7951-9

By:

Cazzato, Daniele;
Bella, Eleonora;
Dacci, Patrizia;
Mariotti, Caterina;
Lauria, Giuseppe

Publication type:

Article