Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Stingl, Katarina, Baumann, Britta, De Angeli, Pietro, Vincent, Ajoy, Héon, Elise, Cordonnier, Monique, De Baere, Elfriede, Raskin, Salmo, Sato, Mario Teruo, Shiokawa, Naoye, Kohl, Susanne, Wissinger, Bernd
Published in International journal of molecular sciences (20.06.2022)
Published in International journal of molecular sciences (20.06.2022)
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Journal Article
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients
Arruda, Walter Oleschko, Meira, Alex Tiburtino, Ono, Sergio Eiji, de Carvalho Neto, Arnolfo, Betting, Luiz Eduardo Gomes Garcia, Raskin, Salmo, Camargo, Carlos Henrique F., Teive, Hélio Afonso Ghizoni
Published in Cerebellum (London, England) (01.08.2020)
Published in Cerebellum (London, England) (01.08.2020)
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Targeted knockout of a chemokine-like gene increases anxiety and fear responses
Choi, Jung-Hwa, Jeong, Yun-Mi, Kim, Sujin, Lee, Boyoung, Ariyasiri, Krishan, Kim, Hyun-Taek, Jung, Seung-Hyun, Hwang, Kyu-Seok, Choi, Tae-Ik, Park, Chul O, Huh, Won-Ki, Carl, Matthias, Rosenfeld, Jill A., Raskin, Salmo, Ma, Alan, Gecz, Jozef, Kim, Hyung-Goo, Kim, Jin-Soo, Shin, Ho-Chul, Park, Doo-Sang, Gerlai, Robert, Jamieson, Bradley B., Kim, Joon S., Iremonger, Karl J., Lee, Sang H., Shin, Hee-Sup, Kim, Cheol-Hee
Published in Proceedings of the National Academy of Sciences - PNAS (30.01.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (30.01.2018)
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Journal Article
Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
NOVIS, Luiz Eduardo, SPITZ, Mariana, JARDIM, Marcia, RASKIN, Salmo, TEIVE, Hélio A. G.
Published in Arquivos de neuro-psiquiatria (01.09.2020)
Published in Arquivos de neuro-psiquiatria (01.09.2020)
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Journal Article
Neuroradiological Findings in the Spinocerebellar Ataxias
Meira, Alex Tiburtino, Arruda, Walter Oleschko, Ono, Sergio Eiji, Neto, Arnolfo de Carvalho, Raskin, Salmo, Camargo, Carlos Henrique F., Teive, Hélio Afonso G.
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (26.09.2019)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (26.09.2019)
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Multiple copy number variation in a patient with Kleefstra syndrome
Lee, Thomas Nohama, Rechetello, Henrique El Laden, Lima, João Batista De Arêa, Cornelio, João Pedro Fagoti Ferraz, Pegoraro, Naiara Bozza, Raskin, Salmo, Mikami, Liya Regina
Published in Revista Paulista de Pediatria (01.01.2024)
Published in Revista Paulista de Pediatria (01.01.2024)
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Autism and duplication of 17q12q21.2 by array-CGH: a case report
Weingartner, Alana, Pegoraro, Naiara Bozza, Maglioni, Rie Tiba, Moreira, Isabelle Caroline Fasolo Normandia, Rodrigues, Gabriela Esmanhoto, Kunz, Ana Clara, Piai, Caroline Brandão, Milano, Aline Sauzem, Raskin, Salmo, Ferrari, Lilian Pereira, Mikami, Liya Regina
Published in Revista Paulista de Pediatria (01.01.2023)
Published in Revista Paulista de Pediatria (01.01.2023)
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Journal Article
Is Ataxia an Underestimated Symptom of Huntington's Disease?
Franklin, Gustavo L, Camargo, Carlos Henrique F, Meira, Alex T, Pavanelli, Giovana M, Milano, Sibele S, Germiniani, Francisco B, Lima, Nayra S C, Raskin, Salmo, Barsottini, Orlando Graziani Povoas, Pedroso, José Luiz, Maggi, Fernanda Aparecida, Tumas, Vitor, de Carvalho, Pedro Manzke, de Oliveira, Ana Carolina, Braga, Bárbara, Souza, Laura Cristina, Guimarães, Rachel Paes, Piovesana, Luiza Gonzaga, Lopes-Cendes, Íscia Teresinha, de Azevedo, Paula Christina, França, Jr, Marcondes Cavalcante, Martinez, Alberto Rolim Muro, Teive, Hélio A G
Published in Frontiers in neurology (12.11.2020)
Published in Frontiers in neurology (12.11.2020)
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Journal Article
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability
McFarland, Karen N, Liu, Jilin, Landrian, Ivette, Gao, Rui, Sarkar, Partha S, Raskin, Salmo, Moscovich, Mariana, Gatto, Emilia M, Teive, Hélio A G, Ochoa, Adriana, Rasmussen, Astrid, Ashizawa, Tetsuo
Published in European journal of human genetics : EJHG (01.11.2013)
Published in European journal of human genetics : EJHG (01.11.2013)
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Journal Article
Muscle cramps profile among spinocerebellar ataxias
Franklin, Gustavo, Ferreira Camargo, Carlos, Balaban, Daniel, Marcon, João, Raskin, Salmo, Meira, Alex, Ghizoni Teive, Hélio
Published in Annals of the Indian Academy of Neurology (01.07.2022)
Published in Annals of the Indian Academy of Neurology (01.07.2022)
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Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
Liberalesso, Paulo Breno Noronha, Cordeiro, Mara L, Karuta, Simone Carreiro Vieira, Koladicz, Karyn Regina Jordão, Nitsche, Anderson, Zeigelboim, Bianca Simone, Raskin, Salmo, Rauchman, Michael
Published in BMC medical genetics (06.11.2017)
Published in BMC medical genetics (06.11.2017)
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Journal Article
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
Efthymiou, Stephanie, Novis, Luiz E, Koutsis, Georgios, Koniari, Chrysoula, Maroofian, Reza, Turchetti, Valentina, Velonakis, Georgios, Vasconcellos, Luiz F, Raskin, Salmo, Srinivasan, Varunvenkat M, Pagnamenta, Alistair T, Arun, Yaramanchanahalli B, Kinhal, Uddhava V, Gowda, Vykuntaraju K, Teive, Helio A G, Houlden, Henry
Published in Annals of clinical and translational neurology (01.10.2023)
Published in Annals of clinical and translational neurology (01.10.2023)
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Journal Article
Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients
Moro, Adriana, Munhoz, Renato P, Arruda, Walter O, Raskin, Salmo, Moscovich, Mariana, Teive, Hélio A G
Published in Arquivos de neuro-psiquiatria (01.09.2014)
Published in Arquivos de neuro-psiquiatria (01.09.2014)
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Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10
White, Misti C, Gao, Rui, Xu, Weidong, Mandal, Santi M, Lim, Jung G, Hazra, Tapas K, Wakamiya, Maki, Edwards, Sharon F, Raskin, Salmo, Teive, Hélio A G, Zoghbi, Huda Y, Sarkar, Partha S, Ashizawa, Tetsuo
Published in PLoS genetics (10.06.2010)
Published in PLoS genetics (10.06.2010)
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Journal Article
Olfactory heterogeneity in LRRK2 related Parkinsonism
Silveira-Moriyama, Laura, Munhoz, Renato Pupi, de J. Carvalho, Margarete, Raskin, Salmo, Rogaeva, Ekaterina, de C. Aguiar, Patricia, Bressan, Rodrigo A., Felicio, Andre C., Barsottini, Orlando G.P., Andrade, Luiz Augusto F., Chien, Hsin F., Bonifati, Vincenzo, Barbosa, Egberto R., Teive, Helio A., Lees, Andrew J.
Published in Movement disorders (15.12.2010)
Published in Movement disorders (15.12.2010)
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