Do we need a new look in the definition of X-linked recessive disorders? by Iscia Lopes-Cendes

Get full text

Pharmacogenetics: reality or fiction? Or are we there yet? by Iscia Lopes-Cendes, Carlos A.M. Guerreiro

Get full text

Molecular diagnosis of Huntington disease in Brazilian patients by TEREZA C. LIMA E SILVA, HELIANE GUERRA SERRA, CARMEN S. BERTUZZO, ISCIA LOPES-CENDES

Get full text

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders Diagnóstico laboratorial da síndrome do cromossomo X frág... by Carlos Eduardo Steiner, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria, Iscia Lopes-Cendes

Get full text

Machado-Joseph disease versus hereditary spastic paraplegia: case report by Hélio A. Ghizoni Teive, Fabio Massaiti Iwamoto, Carlos Henrique Camargo, Iscia Lopes-Cendes, Lineu Cesar Werneck

Get full text

Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1 Características clínicas e moleculares de uma família Brasileira com ataxia espinoce... by Iscia Lopes-Cendes, Carlos E. Steiner, Isabel Silveira, Walter Pinto-Junior, Jayme A. Maciel, Guy A. Rouleau

Get full text

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice by Marina C. Gonsales, Maria Augusta Montenegro, Camila V. Soler, Ana Carolina Coan, Marilisa M. Guerreiro, Iscia Lopes-Cendes

Get full text

The clinical spectrum of malformations of cortical development Espectro clínico das malformações do desenvolvimento cortical by Maria Augusta Montenegro, Fernando Cendes, Iscia Lopes-Cendes, Carlos A.M. Guerreiro, Li M. Li, Marilisa M. Guerreiro

Get full text

Clinical features and management of hereditary spastic paraplegia by Ingrid Faber, Katiane R. Servelhere, Alberto R. M. Martinez, Anelyssa D?Abreu, Iscia Lopes-Cendes, Marcondes C. França Jr

Get full text

Linkage study of voltage-gated potassium channels in familial mesial temporal lobe epilepsy Análise de ligação dos canais de potássio voltagem-dependente na epilepsia de lobo tempo... by Cláudia Vianna Maurer-Morelli, Rafael Breglio Marchesini, Rodrigo Secolin, Neide Ferreira Santos, Eliane Kobayashi, Fernando Cendes, Iscia Lopes-Cendes

Get full text

Epilepsias parciais familiares by ELIANE KOBAYASHI, FERNANDO CENDES, SOLANGE C. SOUSA, ANNA E. SCOTONI, MARIA IMACULADA CARVALHO, MARILISA M. GUERREIRO, CARLOS A.M. GUERREIRO, ISCIA LOPES-CENDES

Get full text

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype by Guilherme Riccioppo Rodrigues, Ruth H. Walker, Benedikt Bader, Adrian Danek, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Iscia Lopes-Cendes, Wilson Marques Jr., Vitor Tumas

Get full text

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1 by Carlos Roberto Martins Junior, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Júnior

Get full text

Síndrome peri-sylviana: estudo de uma família brasileira com ênfase na modalidade de transmissão genética e espectro clínico Perisylvian syndrome: report of one Brazilian family wi... by Eliane P. Herrera, Iara L. Brandão-Almeida, Catarina A. Guimarães, Ecila P. M. Oliveira, Maria Augusta Montenegro, Fernando Cendes, Iscia Lopes-Cendes, Carlos A.M. Guerreiro, Simone R.V. Hage, Marilisa M. Guerreiro

Get full text

Expression of concern for global biomedical research by the human genome organization (HUGO) by Ada Hamosh, Fabiana Arzuaga, Karen B. Avraham, Zilfalil Bin Alwi, Anne Bowcock, Sir John Burn, Piero Carninci, Collet Dandara, Iscia Lopes-Cendes, Leon Mutesa, Partha P. Majumder, Juergen K.V. Reichardt, Joris A. Veltman

Get full text

Joinville stroke biobank: study protocol and first year’s results by Leslie Ecker Ferreira, Paulo Henrique Condeixa de França, Vivian Nagel, Vanessa Venancio, Juliana Safanelli, Felipe Ibiapina dos Reis, Luis Furtado, Rui Kleber Martins, Gustavo Weiss, Elder Oda, Iscia Lopes-Cendes, Octavio Pontes-Neto, Norberto Luiz Cabral

Get full text

Multimodal single-cell profiling reveals neuronal vulnerability and pathological cell states in focal cortical dysplasia by Isabella C. Galvão, Manuela Lemoine, Lauana A. Messias, Patrícia A.O.R.A. Araújo, Jaqueline C. Geraldis, Clarissa L. Yasuda, Marina K.M. Alvim, Enrico Ghizoni, Helder Tedeschi, Fernando Cendes, Fabio Rogerio, Iscia Lopes-Cendes, Diogo F.T. Veiga

Get full text

Conceptualizing the public good for genomics in the global South: a cross-disciplinary roundtable dialogue by Tayyaba Jiwani, Adjua Akinwumi, Jocelyn Cheé-Santiago, Yulia Egorova, Gabriel Frassetto, Ricardo di Lazzaro Filho, Iscia Lopes-Cendes, Mercedes Okumura, José Antonio Alonso Pavón, Alice B. Popejoy, David Skinner, Peter Wade, Matthias Wienroth, Ernesto Schwartz-Marin, Michel Satya Naslavsky, Michel Satya Naslavsky

Get full text

Gut microbiome in neuropsychiatric disorders by Diana Marcela MEJÍA-GRANADOS, Benjamín VILLASANA-SALAZAR, Ana Carolina COAN, Liara RIZZI, Marcio Luiz Figueredo BALTHAZAR, Alexandre Barcia de GODOI, Amanda Morato do CANTO, Douglas Cescon da ROSA, Lucas Scárdua SILVA, Rafaella do Rosario TACLA, Alfredo DAMASCENO, Amanda DONATTI, Wagner Mauad AVELAR, Alessandro SOUSA, Iscia LOPES-CENDES

Get full text