Fernando Kok (F Kok)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 16

Top Topics

Chronic Kidney Disease

Ejection Fraction

Top Venues

Arquivos de neuro-psiquiatria

American journal of medical genetics. Part A

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, Andre Luis Santos Pessoa, Bibiana Mello de Oliveira
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. Arquivos de neuro-psiquiatria 82 (5) (2024)
Guilherme Diogo da Silva, João Vitor Mahler, Sérgio Roberto Pereira da Silva Junior, Leonardo Oliveira Mendonça, Pedro Lucas Grangeiro de Sá Barreto Lima, Paulo Ribeiro Nóbrega, Fernando Kok, Fernando Freua
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? BMC neurology 24 (1) (2024)
Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando Grazianni Povoas Barsottini, José Luiz Pedroso
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 10 (3) (2024)
Guilherme Diogo da Silva, João Vitor Mahler, Sérgio Roberto Pereira da Silva Junior, Leonardo Oliveira Mendonça, Pedro Lucas Grangeiro de Sá Barreto Lima, Paulo Ribeiro Nóbrega, Fernando Kok, Fernando Freua
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? BMC neurology 24 (1) (2024)
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, Andre Luis Santos Pessoa, Bibiana Mello de Oliveira
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. Arquivos de neuro-psiquiatria 82 (5) (2024)
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, Andre Luis Santos Pessoa, Bibiana Mello de Oliveira
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. Arquivos de neuro-psiquiatria 82 (5) (2024)
Guilherme Diogo da Silva, João Vitor Mahler, Sérgio Roberto Pereira da Silva Junior, Leonardo Oliveira Mendonça, Pedro Lucas Grangeiro de Sá Barreto Lima, Paulo Ribeiro Nóbrega, Fernando Kok, Fernando Freua
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? BMC neurology 24 (1) (2024)
Guilherme Diogo da Silva, João Vitor Mahler, Sérgio Roberto Pereira da Silva Junior, Leonardo Oliveira Mendonça, Pedro Lucas Grangeiro de Sá Barreto Lima, Paulo Ribeiro Nóbrega, Fernando Kok, Fernando Freua
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing? BMC neurology 24 (1) (2024)
Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando Grazianni Povoas Barsottini, José Luiz Pedroso
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 10 (3) (2024)
Daniel de Faria Guimarães, Ana Luiza Viegas de Almeida, Felipe Alba Scortegagna, Renato Hoffmann Nunes, Simone Consuelo Amorim, Felipe Torres Pacheco, Fernando Kok, Antonio Jose da Rocha
Dysgenesis of the posterior segment of the corpus callosum: don't miss SPG45! Arquivos de neuro-psiquiatria 81 (3) (2023)
Letícia Pereira de Brito Sampaio, Maria Luíza Giraldes de Manreza, Andre Luis Santos Pessoa, Juliana Gurgel-Giannetti, Ana Carolina Coan, Hélio van der Linden Júnior, Emília Katiane E A Leão, Adélia Maria de Miranda Henriques Souza, Fernando Kok
Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group. Arquivos de neuro-psiquiatria 81 (3) (2023)
Paulo Ribeiro Nóbrega, Matheus Augusto Araujo Castro, Anderson Rodrigues Brandão de Paiva, Fernando Kok
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3. American journal of medical genetics. Part A 188 (12) (2022)
Thiago Gonçalves Guimarães, Lucas R Montanha, Fernando Freua, Anderson Rodrigues Brandão de Paiva, Lúcia I Macedo-Souza, Fernando Kok
Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients. Tremor and other hyperkinetic movements (New York, N.Y.) 12 (2022)
Darine Villela, Patricia C Mazzonetto, Michele P Migliavacca, Eduardo Perrone, Gustavo Guida, Maria Fernanda G Milanezi, Alexander Augusto de Lima Jorge, Lucilene A Ribeiro-Bicudo, Fernando Kok, Francine Campagnari, Liane de Rosso-Giuliani, Silvia Souza da Costa, Angela M Vianna-Morgante, Peter L Pearson, Ana C V Krepischi, Carla Rosenberg
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American journal of medical genetics. Part A 185 (8) (2021)
Luiza L P Ramos, Fabiola P Monteiro, Leticia P B Sampaio, Larissa A Costa, Mara D O Ribeiro, Erika L Freitas, Joao P Kitajima, Fernando Kok
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment. Clinical case reports 7 (8) (2019)
Uirá Souto Melo, F Freua, D S Lynch, B D Ripa, R B Tenorio, Jonas Alex Morales Saute, F de Souza Leite, J Kitajima, H Houlden, M Zatz, Fernando Kok
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clinical genetics 94 (5) (2018)