Genetics of COVID-19

por Raskin, Salmo
Publicado 2020

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular char...

por Souza, Josiane, Faucz, Fábio, Sotomaior, Vanessa, Filho, Aguinaldo Bonalumi, Rosenfeld, Jill, Raskin, Salmo
Publicado 2011

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)

por Dias, Francisco A, Munhoz, Renato P, Raskin, Salmo, Werneck, Lineu César, Teive, Hélio A G
Publicado 2011

Report of cluster headache in a pair of monozygous twins

por Kowacs, Pedro A., Piovesan, Elcio J., Werneck, Lineu C., Fameli, Hudson, Lange, Marcos C., Raskin, Salmo
Publicado 2004

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

por Camargo, Carlos Henrique F., Camargos, Sarah Teixeira, Raskin, Salmo, Cardoso, Francisco Eduardo C., Teive, Hélio Afonso G.
Publicado 2014

Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress

por Grabowski, Paulo André Pera, Bello, Alexandre Ferreira, Rodrigues, Diogo Lima, Forbeci, Murilo José, Motter, Vinicius, Raskin, Salmo
Publicado 2017

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

por Catai, Ligia Maria Perrucci, Camargo, Carlos Henrique Ferreira, Moro, Adriana, Ribas, Gustavo, Raskin, Salmo, Teive, Hélio Afonso Ghizoni
Publicado 2018

Phenocopy in a patient with triple negative breast cancer: a case report

por da Costa, Gustavo Henrique Morcelli, Dias, Eduarda Scoto, Pegoraro, Naiara Bozza, Kohler, Camila Nemetz, Raskin, Salmo, Mikami, Liya Regina
Publicado 2023

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families

por Teive, Hélio A. G., Munhoz, Renato P., Arruda, Walter O., Lopes-Cendes, Iscia, Raskin, Salmo, Werneck, Lineu C., Ashizawa, Tetsuo
Publicado 2012

Muscle Cramps Profile among Spinocerebellar Ataxias

por Franklin, Gustavo Leite, Ferreira Camargo, Carlos Henrique, Balaban, Daniel, Marcon, João Matheus, Raskin, Salmo, Meira, Alex Tiburtino, Ghizoni Teive, Hélio Afonso
Publicado 2022

Neuroradiological Findings in the Spinocerebellar Ataxias

por Meira, Alex Tiburtino, Arruda, Walter Oleschko, Ono, Sergio Eiji, Neto, Arnolfo de Carvalho, Raskin, Salmo, Camargo, Carlos Henrique F., Teive, Hélio Afonso G.
Publicado 2019

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

por Liberalesso, Paulo Breno Noronha, Cordeiro, Mara L., Karuta, Simone Carreiro Vieira, Koladicz, Karyn Regina Jordão, Nitsche, Anderson, Zeigelboim, Bianca Simone, Raskin, Salmo, Rauchman, Michael
Publicado 2017

Multiple copy number variation in a patient with Kleefstra syndrome

por 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
Publicado 2023

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

por Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo
Publicado 2023

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

por 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
Publicado 2022

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

por 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
Publicado 2023

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

por 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
Publicado 2010

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

por 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
Publicado 2023

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

por Novis, Luiz Eduardo, Frezatti, Rodrigo S., Pellerin, David, Tomaselli, Pedro J., Alavi, Shahryar, Della Coleta, Marcus Vinícius, Spitz, Mariana, Dicaire, Marie-Josée, Iruzubieta, Pablo, Pedroso, José Luiz, Barsottini, Orlando, Cortese, Andrea, Danzi, Matt C., França, Marcondes C., Brais, Bernard, Zuchner, Stephan, Houlden, Henry, Raskin, Salmo, Marques, Wilson, Teive, Helio A.
Publicado 2023

MBRS-54. POOR SURVIVAL IN REPLICATION REPAIR DEFICIENT HYPERMUTANT MEDULLOBLASTOMA AND CNS EMBRYONAL TUMORS: A REPORT FROM THE INTERNATIONAL RRD CONSORTIUM

por Das, Anirban, Bianchi, Vanessa, Edwards, Melissa, Varghese, Nobish, Sudhaman, Sumedha, Farah, Roula, Dvir, Rina, Reddy, Alyssa, Raskin, Salmo, Hansford, Jordan, Hamid, Syed Ahmer, Hsu, Saunders, Yen, Lee Yi, Quider, Abed Abu, Ghalibafian, Mithra, Koustenis, Elisabeth, Al-Battashi, Abeer, Mason, Gary, Lee, Joung, Bell, Danille, Stearns, Duncan, Ziegler, David, Zapotocky, Michal, Lasaletta, Alvaro, Kulkarni, Abhaya, Tsang, Derek S, Laperriere, Normand, Hawkins, Cynthia, Bouffet, Eric, Ramaswamy, Vijay, Tabori, Uri
Publicado 2020