Výsledky vyhledávání - Bruno Della‐Ripa

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  1. 1
    “Ears of the lynx” sign in hereditary spastic paraplegias is not always the same!

    “Ears of the lynx” sign in hereditary spastic paraplegias is not always the same! Autor Victor Hugo Rocha Marussi, Bruno Della Ripa Rodrigues Assis, Fernando Freua

    Vydáno 2024
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  2. 2
    Quantitative EEG evaluation in patients with acute encephalopathy

    Quantitative EEG evaluation in patients with acute encephalopathy Autor Aline Souza Marques da Silva Braga, Bruno Della Ripa Rodrigues Assis, Jamil Thiago Rosa Ribeiro, Patricia Maria Sales Polla, Breno José Hülle Pereira, Ronaldo Guimarães Fonseca, Luiz Eduardo Betting

    Vydáno 2013
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  3. 3
    Quantitative EEG evaluation in patients with acute encephalopathy

    Quantitative EEG evaluation in patients with acute encephalopathy Autor Braga, Aline Souza Marques da Silva, Assis, Bruno Della Ripa Rodrigues, Ribeiro, Jamil Thiago Rosa, Polla, Patricia Maria Sales, Pereira, Breno Jose Hulle, Fonseca, Ronaldo Guimaraes, Betting, Luiz Eduardo

    Vydáno 2013
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    Online
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  4. 4
    A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

    A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) Autor Sanjay Budhdeo, Anderson Rodrigues Brandão de Paiva, Charles Wade, Laura Cardia Gomes Lopes, Bruno Della‐Ripa, Indran Davagnanam, Leandro Tavares Lucato, Catherine Mummery, Fernando Kok, Henry Houlden, David J. Werring, David S. Lynch

    Vydáno 2022
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  5. 5
    Corrigendum to “Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature” [Brain Dev. 42(2) (2020) 211–216]

    Corrigendum to “Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature” [Brain Dev. 42(2) (2020) 211–216] Autor Luciana Midori Inuzuka, Lúcia Inês Macedo‐Souza, Bruno Della‐Ripa, Katiane Sayão Souza Cabral, Fabíola Paoli Monteiro, João Paulo Kitajima, Luís Filipe de Souza Godoy, Daniel de Souza Delgado, Fernando Kok, Eliana Garzón

    Vydáno 2021
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  6. 6
    Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

    Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. Autor Fernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandão de Paiva, Bruno Della-Ripa, Paulina Cunha, Lúcia Inês Macedo‐Souza, Clarissa Bueno, David S. Lynch, Henry Houlden, Leandro Tavares Lucato, Fernando Kok

    Vydáno 2022
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  7. 7
    PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

    PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy Autor de Paiva, Anderson Rodrigues Brandão, Lynch, David S., Melo, Uirá Souto, Lucato, Leandro Tavares, Freua, Fernando, de Assis, Bruno Della Ripa, Barcelos, Isabella, Listik, Clarice, de Castro dos Santos, Diego, Macedo-Souza, Lúcia Inês, Houlden, Henry, Kok, Fernando

    Vydáno 2019
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  8. 8
    <i>PUS3</i> mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

    <i>PUS3</i> mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy Autor Anderson Rodrigues Brandão de Paiva, David S. Lynch, Uirá Souto Melo, Leandro Tavares Lucato, Fernando Freua, Bruno Della Ripa de Assis, Isabella Peixoto de Barcelos, Clarice Listik, Diego de Castro dos Santos, Lúcia Inês Macedo‐Souza, Henry Houlden, Fernando Kok

    Vydáno 2019
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  9. 9
    Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype

    Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype Autor Isabella Peixoto de Barcelos, Clarissa Bueno, Luís Filipe de Souza Godoy, André Luiz Santos Pessoa, Larissa A. Costa, Fernanda C. Monti, Katiane Souza-Cabral, Clarice Listik, Diego de Castro dos Santos, Bruno Della‐Ripa, Fernando Freua, Laís C. Pires, Lia T. Krüger, José Luiz Dias Gherpelli, Flávia Piazzon, Fabíola Paoli Monteiro, Leandro Tavares Lucato, Fernando Kok

    Vydáno 2023
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  10. 10
    Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

    Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings Autor Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega, Cristiane Araújo Martins Moreno, David S. Lynch, Lucas Mitsuo Taniguti, João Paulo Kitajima, Fernando Freua, Bruno Della‐Ripa, Paulina Cunha, Isabella Peixoto de Barcelos, Lúcia Inês Macedo‐Souza, Carlos Augusto Takeuchi, Antônio Milton Silva Garcia, Flávia Nardes, Ramiro Fontão, Sérgio Antônio Antoniuk, M. Troncoso, Norma Spécola, Consuelo Durand, Bianca de Aguiar Coelho Silva Madeiro, Maria Juliana Rodovalho Doriqui, Diane Vergara, Henry Houlden, Fernando Kok

    Vydáno 2023
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  11. 11
    A novel complex neurological phenotype due to a homozygous mutation in FDX2

    A novel complex neurological phenotype due to a homozygous mutation in FDX2 Autor Gurgel-Giannetti, Juliana, Lynch, David S, de Paiva, Anderson Rodrigues Brandão, Lucato, Leandro Tavares, Yamamoto, Guilherme, Thomsen, Christer, Basu, Somsuvro, Freua, Fernando, Giannetti, Alexandre Varella, de Assis, Bruno Della Ripa, Ribeiro, Mara Dell Ospedale, Barcelos, Isabella, Sayão Souza, Katiane, Monti, Fernanda, Melo, Uirá Souto, Amorim, Simone, Silva, Leonardo G L, Macedo-Souza, Lúcia Inês, Vianna-Morgante, Angela M, Hirano, Michio, Van der Knaap, Marjo S, Lill, Roland, Vainzof, Mariz, Oldfors, Anders, Houlden, Henry, Kok, Fernando

    Vydáno 2018
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  12. 12
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Autor Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Vydáno 2024
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  13. 13
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Autor Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Vydáno 2025
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