Genetics of COVID-19 von Raskin, Salmo

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Clinical and epidemiological study of orofacial clefts von Souza, Josiane, Raskin, Salmo

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Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement von Giugliani, Roberto, de Siqueira, Ana Cecília Menezes, Santos, Emerson Santana, Leão, Emília Katiane E A, Carvalho, Gerson da Silva, Santos, Mara Lúcia Schmitz Ferreira, Raskin, Salmo, Martins, Ana Maria

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Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction von 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

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Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients von 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

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Targeted knockout of a chemokine-like gene increases anxiety and fear responses von 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

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Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review von NOVIS, Luiz Eduardo, SPITZ, Mariana, JARDIM, Marcia, RASKIN, Salmo, TEIVE, Hélio A. G.

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Neuroradiological Findings in the Spinocerebellar Ataxias von Meira, Alex Tiburtino, Arruda, Walter Oleschko, Ono, Sergio Eiji, Neto, Arnolfo de Carvalho, Raskin, Salmo, Camargo, Carlos Henrique F., Teive, Hélio Afonso G.

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Multiple copy number variation in a patient with Kleefstra syndrome von 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

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Phenocopy in a patient with triple negative breast cancer: a case report von Costa, Gustavo Henrique Morcelli da, Dias, Eduarda Scoto, Pegoraro, Naiara Bozza, Kohler, Camila Nemetz, Raskin, Salmo, Mikami, Liya Regina

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Autism and duplication of 17q12q21.2 by array-CGH: a case report von 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

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Is Ataxia an Underestimated Symptom of Huntington's Disease? von 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, Jose Luiz, Maggi, Fernanda Aparecida, Tumas, Vitor, de Carvalho, Pedro Manzke, de Oliveira, Ana Carolina, Braga, Barbara, Souza, Laura Cristina, Guimaraes, Rachel Paes, Piovesana, Luiza Gonzaga, Lopes-Cendes, Iscia Teresinha, de Azevedo, Paula Christina, Franca, Marcondes Cavalcante, Martinez, Alberto Rolim Muro, Teive, Helio A. G.

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Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability von 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

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Muscle cramps profile among spinocerebellar ataxias von Franklin, Gustavo, Ferreira Camargo, Carlos, Balaban, Daniel, Marcon, João, Raskin, Salmo, Meira, Alex, Ghizoni Teive, Hélio

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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 von Liberalesso, Paulo Breno Noronha, Cordeiro, Mara L, Karuta, Simone Carreiro Vieira, Koladicz, Karyn Regina Jordão, Nitsche, Anderson, Zeigelboim, Bianca Simone, Raskin, Salmo, Rauchman, Michael

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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn von 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

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JUVENILE HUNTINGTON DISEASE Pediatric neurologist: look at the neuroimage von dos Santos, Lúcia H. Coutinho, MD, PhD, de Carvalho Neto, Arnolfo, MD, PhD, Raskin, Salmo, MD, PhD, Bruck, Isac, MD

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Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families von Teive, Hélio A.G., Munhoz, Renato P., Arruda, Walter O., Lopes-Cendes, Iscia, Raskin, Salmo, Werneck, Lineu C., Ashizawa, Tetsuo

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Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients von Moro, Adriana, Munhoz, Renato P, Arruda, Walter O, Raskin, Salmo, Moscovich, Mariana, Teive, Hélio A G

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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 von 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

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