检索结果 - Lúcia Inês Macedo‐Souza

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  1. 1
    Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD)

    Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD) 由 Fernando Freua, Jacy Bezerra Parmera, Denise Dória, Anderson Rodrigues Brandão de Paiva, Lúcia Inês Macedo‐Souza, Fernando Kok

    出版 2015
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  2. 2
    Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients

    Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients 由 Thiago Gonçalves Guimarães, Lucas R. Montanha, Fernando Freua, Anderson Rodrigues Brandão de Paiva, Lúcia Inês Macedo‐Souza, Fernando Kok

    出版 2022
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  3. 3
    Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

    Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN) 由 Zódja Graciani, Silvana Santos, Lúcia Inês Macedo‐Souza, Carlos Bandeira de Mello Monteiro, Maria Isabel Veras, Simone Amorim, Mayana Zatz, Fernando Kok

    出版 2010
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  4. 4
    Typical clinical and neuroimaging features in Sjögren-Larsson syndrome

    Typical clinical and neuroimaging features in Sjögren-Larsson syndrome 由 Anderson Rodrigues Brandão de Paiva, Uirá Souto Melo, Fernando Freua, Denise Dória, Katiane Sayão Souza Cabral, Lúcia Inês Macedo‐Souza, Leandro Tavares Lucato, Fernando Kok

    出版 2018
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  5. 5
    Mutation in <i>PNKP</i> presenting initially as axonal Charcot-Marie-Tooth disease

    Mutation in <i>PNKP</i> presenting initially as axonal Charcot-Marie-Tooth disease 由 José Luiz Pedroso, Clarissa Ribeiro Reily Rocha, Lúcia Inês Macedo‐Souza, Vitor De Mario, Wilson Marques, Orlando Graziani Póvoas Barsottini, Acary S.B. Oliveira, Carlos Frederico Martins Menck, Fernando Kok

    出版 2015
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  6. 6
    Mutation in the <i>Scyl1</i> gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration

    Mutation in the <i>Scyl1</i> gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration 由 Wolfgang M. Schmidt, Cornelia Kraus, Harald Höger, Sonja Hochmeister, Felicitas Oberndorfer, Manuela Branka, Sonja Bingemann, Hans Lassmann, Markus Müller, Lúcia Inês Macedo‐Souza, Mariz Vainzof, Mayana Zatz, André Reis, Reginald E. Bittner

    出版 2007
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  7. 7
    <i>ATP6V1B2</i>‐related epileptic encephalopathy

    <i>ATP6V1B2</i>‐related epileptic encephalopathy 由 Luciana Midori Inuzuka, Lúcia Inês Macedo‐Souza, Bruno Della‐Rippa, Fabíola Paoli Monteiro, Daniel de Souza Delgado, Luís Filipe de Souza Godoy, Luiza Ramos, Larissa Sampaio de Athayde Costa, Eliana Garzón, Fernando Kok

    出版 2020
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  8. 8
    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] 由 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

    出版 2021
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  9. 9
    Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

    Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. 由 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

    出版 2022
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  10. 10
    <i>PUS3</i> mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

    <i>PUS3</i> mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy 由 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

    出版 2019
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  11. 11
    Overexpression of<i>KLC2</i>due to a homozygous deletion in the non-coding region causes SPOAN syndrome

    Overexpression of<i>KLC2</i>due to a homozygous deletion in the non-coding region causes SPOAN syndrome 由 Uirá Souto Melo, Lúcia Inês Macedo‐Souza, Thalita Figueiredo, Alysson R. Muotri, Joseph G. Gleeson, Gabriela Coux, Pablo Armas, Nora B. Calcaterra, João Paulo Kitajima, Simone Amorim, Thiago Rosa Olávio, Karina Griesi‐Oliveira, Giuliana Castello Coatti, Clarissa Ribeiro Reily Rocha, Marinalva Martins-Pinheiro, Carlos Frederico Martins Menck, Maha S. Zaki, Fernando Kok, Mayana Zatz, Silvana Santos

    出版 2015
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  12. 12
    Clinical and genetic characterization of leukoencephalopathies in adults

    Clinical and genetic characterization of leukoencephalopathies in adults 由 David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lúcia Inês Macedo‐Souza, Rahul Lakshmanan, Justin Kinsella, Áine Merwick, Alexander M. Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J. Morrison, Deborah Hughes, Alan Pittman, Matilde Laurá, Mary M. Reilly, Jason D. Warren, Catherine J. Mummery, Jonathan M. Schott, Matthew Adams, Nick C. Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden

    出版 2017
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  13. 13
    Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

    Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings 由 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

    出版 2023
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