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Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
Satolli, Sara, Rossi, Salvatore, Vegezzi, Elisa, Pellerin, David, Manca, Maria Laura, Barghigiani, Melissa, Battisti, Carla, Bilancieri, Giusi, Bruno, Giorgia, Capacci, Elena, Casali, Carlo, Ceravolo, Roberto, Cocozza, Sirio, Cotti Piccinelli, Stefano, Criscuolo, Chiara, Danzi, Matt C., De Micco, Rosa, De Michele, Giuseppe, Dicaire, Marie-Josée, Falcone, Grazia Maria Igea, Fancellu, Roberto, Ferchichi, Yasmine, Ferrari, Camilla, Filla, Alessandro, Fini, Nicola, Govoni, Alessandra, Lo Vecchio, Filomena, Malandrini, Alessandro, Mignarri, Andrea, Musumeci, Olimpia, Nesti, Claudia, Pappatà, Sabina, Pellecchia, Maria Teresa, Perna, Alessia, Petrucci, Antonio, Pomponi, Maria Grazia, Ravenni, Roberta, Ricca, Ivana, Rufa, Alessandra, Tabolacci, Elisabetta, Tessa, Alessandra, Tessitore, Alessandro, Zuchner, Stephan, Silvestri, Gabriella, Cortese, Andrea, Brais, Bernard, Santorelli, Filippo M.
Published in Journal of neurology (01.08.2024)
Published in Journal of neurology (01.08.2024)
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Journal Article
Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson’s disease? – A saccade study on pathophysiology
Terao, Yasuo, Fukuda, Hideki, Tokushige, Shinnichi, Inomata-Terada, Satomi, Yugeta, Akihiro, Hamada, Masashi, Ichikawa, Yaeko, Hanajima, Ritsuko, Ugawa, Yoshikazu
Published in Clinical neurophysiology (01.02.2016)
Published in Clinical neurophysiology (01.02.2016)
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Journal Article
Head tremor at disease onset: an ataxic phenotype of cervical dystonia
Merola, Aristide, Dwivedi, Alok K., Shaikh, Aasef G., Tareen, Tamour Khan, Da Prat, Gustavo A., Kauffman, Marcelo A., Hampf, Jennie, Mahajan, Abhimanyu, Marsili, Luca, Jankovic, Joseph, Comella, Cynthia L., Berman, Brian D., Perlmutter, Joel S., Jinnah, Hyder A., Espay, Alberto J.
Published in Journal of neurology (01.08.2019)
Published in Journal of neurology (01.08.2019)
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Journal Article
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time
Perez Maturo, J., Zavala, L., Vega, P., González-Morón, D., Medina, N., Salinas, V., Rosales, J., Córdoba, M., Arakaki, T., Garretto, N., Rodríguez-Quiroga, S., Kauffman, M. A.
Published in Journal of human genetics (01.10.2020)
Published in Journal of human genetics (01.10.2020)
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Journal Article
Impacts of the COVID-19 Pandemic on the Mental Health and Motor Deficits in Cuban Patients with Cerebellar Ataxias
González-Garcés, Yasmany, Domínguez-Barrios, Yennis, Zayas-Hernández, Arianna, Sigler-Villanueva, Aldo A., Canales-Ochoa, Nalia, Hernández Oliver, María O., Ramírez-Bautista, María B., Caballero-Laguna, Alberto, Arrufat-Pie, Eduardo, Carrillo-Rodes, Frank J., Medrano-Montero, Jacqueline, Rodríguez-Álvarez, Yanela, Gámez-Rodríguez, Osiel, Guerra-Rondón, Leonardo A., Aguilera-Batista, Osvaldo, Vazquez-Mojena, Yaimee, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis
Published in Cerebellum (London, England) (01.12.2021)
Published in Cerebellum (London, England) (01.12.2021)
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Journal Article
The Working Life of People with Degenerative Cerebellar Ataxia
Ranavolo, A., Serrao, M., Varrecchia, T., Casali, C., Filla, A., Roca, A., Silvetti, A., Marcotulli, C., Rondinone, B. M., Iavicoli, S., Draicchio, F.
Published in Cerebellum (London, England) (01.10.2019)
Published in Cerebellum (London, England) (01.10.2019)
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Journal Article
Frequency and Genetic Profile of Compound Heterozygous Friedreich’s Ataxia Patients—the Brazilian Experience
Peluzzo, Thiago Mazzo, Bonadia, Luciana Cardoso, Donatti, Amanda, Molck, Miriam Coelho, Jardim, Laura Bannach, Marques, Wilson, Lopes-Cendes, Iscia Teresinha, França, Marcondes C.
Published in Cerebellum (London, England) (01.12.2019)
Published in Cerebellum (London, England) (01.12.2019)
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Journal Article
Ataxia Prevalence in Primary Orthostatic Tremor
Thompson, Rebecca, Bhatti, Danish E., Hellman, Amy, Doss, Sarah J., Malgireddy, Kalyan, Shou, James, Srikanth-Mysore, Channaiah, Bendi, Sunil, Bertoni, John M., Torres-Russotto, Diego
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (16.12.2020)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (16.12.2020)
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Journal Article
Psychological profiles and quality of life differ between patients with dyssynergia and those with slow transit constipation
Rao, Satish S.C., Seaton, Kara, Miller, Megan J., Schulze, Konrad, Brown, C. Kice, Paulson, Jessica, Zimmerman, Bridget
Published in Journal of psychosomatic research (01.10.2007)
Published in Journal of psychosomatic research (01.10.2007)
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Journal Article
Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population
Zeng, Junsheng, Wang, Junling, Zeng, Sheng, He, Miao, Zeng, Xianfeng, Zhou, Yao, Liu, Zhen, Jiang, Hong, Tang, Beisha
Published in Journal of the neurological sciences (15.04.2015)
Published in Journal of the neurological sciences (15.04.2015)
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Journal Article
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)
Juncos, Jorge L., Lazarus, Joash T., Graves-Allen, Emily, Shubeck, Lisa, Rusin, Michelle, Novak, Gloria, Hamilton, Deborah, Rohr, Julia, Sherman, Stephanie L.
Published in Neurogenetics (01.05.2011)
Published in Neurogenetics (01.05.2011)
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Journal Article
Aging in Fragile X Premutation Carriers
Lozano, Reymundo, Saito, Naomi, Reed, Dallas, Eldeeb, Marwa, Schneider, Andrea, Hessl, David, Tassone, Flora, Beckett, Laurel, Hagerman, Randi
Published in Cerebellum (London, England) (01.10.2016)
Published in Cerebellum (London, England) (01.10.2016)
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Journal Article
Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome
Schneider, Andrea, Ballinger, Elizabeth, Chavez, Alyssa, Tassone, Flora, Hagerman, Randi J., Hessl, David
Published in Neurobiology of aging (01.06.2012)
Published in Neurobiology of aging (01.06.2012)
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Journal Article
Cerebellar and other neurological soft signs in antipsychotic-naïve schizophrenia
Varambally, S., Venkatasubramanian, G., Thirthalli, J., Janakiramaiah, N., Gangadhar, B. N.
Published in Acta psychiatrica Scandinavica (01.11.2006)
Published in Acta psychiatrica Scandinavica (01.11.2006)
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Journal Article