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Fernando Kok

universidade de sao paulo

47H指数
359论文数
8.2K被引数
收录论文 88
发表时间
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of OnsetVPS13D相关疾病:基于发病年龄描述新变异体和表型谱
err2025-11-25
err0
PREAI
errRenata Silva de Mendonça; Ana Beatriz Arruda Santana; Andreia Braga Mota Azzoni; Ana Luiza Viegas de Almeida; Matheus Augusto Araujo Castro; Leandro Tavares Lucato; Fernando Kok; Claudio M. de Gusmao
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function致病性UNC13A变异通过损害突触功能导致神经发育综合征
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10与杂合错义变异相关的青少年期肌张力障碍
err2025-07-31
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errOAAI
errClaudio M. de de Gusmao MD, PhD; Sara C.B. Casagrande MD, PhD; Matheus A. Castro MD; André Pessoa MD, PhD; Cleonisio Leite Rodrigues MD; Laura Silveira Moriyama MD, PhD; Fernando Kok MD, PhD; Paulo Ribeiro Nóbrega MD, PhD
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Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency酪氨酸羟化酶缺乏症的早期左旋多巴治疗
err2025-07-01
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errOAAI
errClaudio M. de Gusmao MD, PhD; Roser Pons MD, PhD; Ganeshwaran H. Mochida MD, MMSc, PhD; Laura Silveira-Moriyama MD, PhD; Fernando Kok MD, PhD
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PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) – A Case Report and Clinical-Focused Literature ReviewPHARC(多发性神经病、听力损失、共济失调、色素性视网膜炎和白内障)——病例报告及临床聚焦的文献综述
err2025-06-19
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PREAI
errSergio Roberto Pereira da Silva; Renata Montes Garcia Barbosa; Patricia Pontes Cruz; Lunielle da Cruz Caldeira; Daniel de Queiroz Omote; João Cláudio da Costa Urbano; Matheus Augusto Araújo Castro; Jacy Bezerra Parmera; Fernando Magri; Fernando Kok; Fernando Freua
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Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohortTK2-deficiency的临床和分子谱: 一个大型巴西队列
err2025-03-15
err0
errOAAI
errMoreno, Cristiane Araujo Martins; Artilheiro, Mariana Cunha; Fonseca, Alulin Tacio Quadros Santos Monteiro; da Silva, Andre Macedo Serafim; Fernandes, Tatiana Ribeiro; Camelo, Clara Gontijo; Paiva, Michelle Abdo; di Pace, Filipe Tupinamba; Pessoa, Andre Luiz Santos; Braga, Vitor Lucas Lopes; Mariano, Tamiris Carneiro; de Paula Estephan, Eduardo; da Penha Morita, Maria; Covaleski, Anna Paula Paranhos Miranda; van der Linden, Vanessa; Tomaselli, Pedro Jose; Scarpellini, Giuliano Roberto; Gurgel-Giannetti, Juliana; Sobrinho, Livia Maria Ferreira; de Oliveira, Thais Martins; Mendonca, Rodrigo Holanda; Lucas, Elizabeth Lemos Silveira; Cruzeiro, Marcelo Maroco; Junior, Carlos Wagner Pereira; Junior, Wilson Marques; Sobreira, Claudia Ferreira da Rosa; Oliveira, Acary Sousa Bulle; Kok, Fernando; Hirano, Michio; Nascimento-Osorio, Andres; Schlesinger, David; Zanoteli, Edmar
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Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishGTF3C3基因的双等位基因变异,该基因编码TFIIIC2复合物的亚基,与人类和斑马鱼中的神经发育表型相关。
err2025-02-05
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errOAAI
errAbdel-Hamid, Mohamed S.; Paimboeuf, Adeline; Zaki, Maha S.; Figueiredo, Fernanda; Abdel-Ghafar, Sherif F.; Maher, Sabrina; Fridriksdottir, Run; Sulem, Patrick; Hognason, Hakon Bjorn; Hallgrimsdottir, Sigrun; Rojas, Catarina Falleiros N.; Kok, Fernando; Suri, Mohnish; Alves, Cesar Augusto P. F.; Houlden, Henry; Maroofian, Reza; Patten, Shunmoogum A.
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Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
err2025-01-01
err0
PREAI
errNobrega, Paulo Ribeiro; Paiva, Anderson Rodrigues Brandao; Amorim Junior, Antonio Duarte; Lima, Pedro Lucas Grangeiro Sa Barreto; Cabral, Katiane Sayao Souza; Barcelos, Isabella Peixoto; Pessoa, Andre Luis Santos; Souza-Lima, Carlos Frederico Leite; Castro, Matheus Augusto Araujo; Freua, Fernando; Santos, Emerson de Santana; Rocha, Margleice Marinho Vieira; Maia, Rayana Elias; Araujo, Rodrigo Santos; Ramos, Juan David Guevara; Resende, Rosane Guazi; Carvalho, Gerson da Silva; Valen, Luciana Patrizia Andrade; de Carvalho Jr, Jose Ronaldo Lima; Melo, Eduardo Sousa; Pedroso, Jose Luiz; Barsottini, Orlando Graziani Povoas; Houlden, Henry; Kok, Fernando; Lynch, David S.
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Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool
err2024-11-25
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errOAAI
errCarvalho, Gleyson Francisco da Silva; de Gusmao, Claudio Melo; Wolff, Beatriz Martins; Vieira, Lucas Liro; de Oliveira, Yanca Gasparini; Costa, Mariana Ribeiro; Mendes, Rafaela da Silva; Castro, Matheus Augusto Araujo; Sakuma, Mayara T.; Kok, Fernando; Sadikovic, Bekim; Kulikowski, Leslie Domenici
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Young-Onset Alzheimer Dementia Due to a Novel Pathogenic Presenilin 1 Variant Initially Misdiagnosed as Autoimmune Encephalitis
err2024-09-01
err1
errOAAI
errRonchi, Nathalia Rossoni; Castro, Matheus A.; Coutinho, Artur M.; Lucato, Leandro T.; Silva, Guilherme Diogo; Brucki, Sonia M.; Kok, Fernando; Tres, Eduardo Sturzeneker; Nobrega, Paulo Ribeiro; Freua, Fernando; Nitrini, Ricardo; Simabukuro, Mateus Mistieri
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Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia
err2024-06-01
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errOAAI
errRaslan, Ivana R.; Silva, Thiago Yoshinaga Tonholo; Kok, Fernando; Rodrigues, Marcelo M.; Aragao, Marcelo M.; Pinho, Ricardo S.; Franca, Marcondes C.; Barsottini, Orlando G.; Pedroso, Jose Luiz
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Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
err2023-10-17
err2
errOAAI
errNobrega, Paulo R.; R. B. de Paiva, Anderson; Souza, Katiane S.; de Souza, Jorge Luiz B.; G. S. B. Lima, Pedro Lucas; da Silva, Delson Jose; Pitombeira, Milena Sales; Borges, Viviennee K.; Dias, Daniel A.; Bispo, Luciana M.; Santos, Carolina F.; Freua, Fernando; Silva, Paulo Diego S.; Alves, Isabela S.; Portella, Leonardo B.; Cunha, Paulina R.; Salomao, Rubens Paulo A.; Pedroso, Jose Luiz; Miyajima, Veridiana P.; Miyajima, Fabio; Cali, Elisa; Wade, Charles; Sudarsanam, Annapurna; O'Driscoll, Mary; Hayton, Tom; Barsottini, Orlando G. P.; Klebe, Stephan; Kok, Fernando; Lucato, Leandro Tavares; Houlden, Henry; Depienne, Christel; Lynch, David S.; Braga-Neto, Pedro
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Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)
err2023-07-10
err1
errOAAI
errPessoa, Andre Luiz Santos; Quesada, Andrea Amaro; Nobrega, Paulo Ribeiro; Viana, Ana Priscila Oliveira; de Oliveira, Kecia Tavares; Figueiredo, Thalita; Santos, Silvana; Kok, Fernando
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A thermosensitive PCNA allele underlies an ataxia- telangiectasia-like disorder
err2023-05-01
err3
errOAAI
errMagrino, Joseph; Munford, Veridiana; Martins, Davi Jardim; Homma, Thais K.; Page, Brendan; Gaubitz, Christl; Freire, Bruna L.; Lerario, Antonio M.; Vilar, Juliana Brandstetter; Amorin, Antonio; Leao, Emilia K. E.; Kok, Fernand; Menck, Carlos F. M.; Jorge, Alexander A. L.; Kelch, Brian A.
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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
err2023-02-03
err1
errOAAI
errBrandao de Paiva, Anderson Rodrigues; Santos Pessoa, Andre Luiz; Nobrega, Paulo Ribeiro; Martins Moreno, Cristiane Araujo; Lynch, David S.; Taniguti, Lucas Mitsuo; Kitajima, Joao Paulo; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; de Barcelos, Isabella Peixoto; Macedo-Souza, Lucia Ines; Takeuchi, Carlos Augusto; Silva Garcia, Antonio Milton; Nardes, Flavia; Fontao, Ramiro; Antoniuk, Sergio Antonio; Troncoso, Monica; Specola, Norma; Durand, Consuelo; Coelho Silva Madeiro, Bianca de Aguiar; Rodovalho Doriqui, Maria Juliana; Vergara, Diane; Houlden, Henry; Kok, Fernando
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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsCLDN5的变异引起以癫痫、小头畸形和脑钙化为特征的综合征
errBRAIN
IF11.7
err2022-12-08
err9
errOAAI
errDeshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna
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Correspondence on A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes by Seaby et al
err2022-12-01
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errOAAI
errPires Ramos, Luiza Lorena; Kitajima, Joao Paulo; de Athayde Costa, Larissa Sampaio; Monteiro, Fabiola Paoli; Kok, Fernando
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Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia巴西共济失调和动眼运动性失用症患者的临床和遗传特征
err2022-04-14
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PREAI
errda Costa, Sophia Caldas Gonzaga; Flavio e de Rezende-Filho; de Freitas, Julian Leticia; de Assis Pereira Matos, Paula Camila Alves; Della-Ripa, Bruno; Franca, Marcondes Cavalcante, Jr.; Marques, Wilson, Jr.; Santos, Mariana; Cronemberger, Igor Vasconcelos Barros; Vale, Thiago Cardoso; Kok, Fernando; Alonso, Isabel; Pedroso, Jose Luiz; Barsottini, Orlando G. P.
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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing
err2022-03-09
err34
errOAAI
errCruz Guindalini, Rodrigo Santa; Viana, Danilo Vilela; Fumio Whitaker Kitajima, Joao Paulo; Rocha, Vinicius Marques; Mendoza Lopez, Rossana Veronica; Zheng, Yonglan; Freitas, Erika; Mendes Monteiro, Fabiola Paoli; Valim, Andre; Schlesinger, David; Kok, Fernando; Olopade, Olufunmilayo, I; Azevedo Koike Folgueira, Maria Aparecida
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