Rezultati - Adriana Rebelo

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  1. 1
    The role of PGC‐1 coactivators in aging skeletal muscle and heart

    The role of PGC‐1 coactivators in aging skeletal muscle and heart od Lloye M. Dillon, Adriana Rebelo, Carlos T. Moraes

    Izdano 2012
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  2. 2
    In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions

    In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions od Adriana Rebelo, Siôn L. Williams, Carlos T. Moraes

    Izdano 2009
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  3. 3
    The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

    The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport od Renata de Moraes Maciel, Dana M. Bis‐Brewer, Adriana Rebelo, Cima Saghira, Stephan Züchner, Mario Saporta

    Izdano 2018
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  4. 4
    Deep structured learning for variant prioritization in Mendelian diseases

    Deep structured learning for variant prioritization in Mendelian diseases od Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana Rebelo, Vívian Pedigone Cintra, Stephan Züchner

    Izdano 2023
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  5. 5
    Motor protein mutations cause a new form of hereditary spastic paraplegia

    Motor protein mutations cause a new form of hereditary spastic paraplegia od Andrés Caballero-Oteyza, Esra Battaloğlu, Levent Öcek, Tobias Lindig, Jennifer Reichbauer, Adriana Rebelo, Michael Gonzalez, Yaşar Zorlu, Burçak Özeş, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Lüdger Schöls, Rebecca Schüle

    Izdano 2014
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  6. 6
    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency od Adriana Rebelo, Dimah Saade, Cláudia V. Pereira, Amjad Farooq, Tyler C. Huff, Lisa Abreu, Carlos T. Moraes, Diana Mnatsakanova, Katherine D. Mathews, Hua Yang, Eric A. Schon, Stephan Züchner, Michael E. Shy

    Izdano 2017
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  7. 7
    Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI

    Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI od Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana Rebelo, Vincenzo Provitera, Filippo M. Santorelli, Michael E. Shy, Tommaso Russo, Stephan Züchner, Lucio Santoro

    Izdano 2017
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  8. 8
    Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

    Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort od Vívian Pedigone Cintra, Maike F. Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos, Luiz Sérgio Mageste Barbosa, Adriana Rebelo, Lisa Abreu, Matt C. Danzi, Wilson Marques, Stephan Züchner

    Izdano 2021
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  9. 9
    Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency

    Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency od Yi Zhu, Amanda G. Lobato, Adriana Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael E. Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai

    Izdano 2023
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  10. 10
    <scp>PLA2G6</scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

    <scp>PLA2G6</scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia od Burçak Özeş, N. Karagoz, Rebecca Schüle, Adriana Rebelo, María‐Jesús Sobrido, Florian Harmuth, Matthis Synofzik, Samuel Ignacio Pascual Pascual, M. Colak, Beyza Ciftci-Kavaklioglu, Bülent Kara, Andrés Ordóñez‐Ugalde, Beatriz Quintáns, Michael Gonzalez, Aysun Soysal, Stephan Züchner, Esra Battaloğlu

    Izdano 2017
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  11. 11
    PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

    PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum od Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Dürr, Lüdger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stévanin, Wilson Marques, Stephan Züchner

    Izdano 2013
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  12. 12
    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy od Adriana Rebelo, Alexander J. Abrams, Ellen Cottenie, Alejandro Horga, Michael Gonzalez, Dana M. Bis‐Brewer, Avencia Sánchez-Mejías, Milena Pinto, Elena Buglo, Kasey Markel, Jeffrey S. Prince, Matilde Laurá, Henry Houlden, Julian Blake, Cathy E. Woodward, Mary G. Sweeney, Janice L. Holton, Michael G. Hanna, Julia E. Dallman, Michaela Auer‐Grumbach, Mary M. Reilly, Stephan Züchner

    Izdano 2016
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  13. 13
    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 od Gladys Montenegro, Adriana Rebelo, James W. Connell, Rachel Allison, Carla Babalini, M -A. D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene V. Strickland, Michael Gonzalez, Lisa Baumbach‐Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak‐Vance, Lüdger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner

    Izdano 2012
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  14. 14
    Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

    Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks od Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocío Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel Vasata Furtado, Maria A.W.H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Züchner, Peter Pytel, Steven S. Scherer, Federica Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga

    Izdano 2018
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  15. 15
    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia od Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    Izdano 2019
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  16. 16
    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia od Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    Izdano 2019
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  17. 17
    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 od Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Fiore Manganelli, Shawna Feely, Chelsea Bacon, Dana Šafka Brožková, Jana Haberlová, Radim Mazanec, Feifei Tao, Cima Saghira, Lisa Abreu, Steve Courel, Eric Powell, Elena Buglo, Dana M. Bis‐Brewer, Megan F. Baxter, Royston Ong, Lorna Marns, Yi‐Chung Lee, Yunhong Bai, Daniel G. Isom, René Barro-Soria, Ki Wha Chung, Steven S. Scherer, H. Peter Larsson, Nigel G. Laing, Byung‐Ok Choi, Pavel Seeman, Michael E. Shy, Lucio Santoro, Stephan Züchner

    Izdano 2018
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  18. 18
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia od Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez‐Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole Belliard Martuscelli, Dana M. Bis‐Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra Tabatabaei, Masoume Yousefi, Hamid Reza Farpour, Christoph Keßler, Elisabeth Mangold, Xenia Kobeleva, Ivailo Tournev, Teodora Chamova, Amelie J. Mueller, Tobias B. Haack, Mark A. Tarnopolsky, Ziv Gan‐Or, Guy A. Rouleau, Matthis Synofzik, María‐Jesús Sobrido, Albena Jordanova, Rebecca Schüle, Stephan Züchner, Mohammad Ali Faghihi

    Izdano 2019
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  19. 19
    Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

    Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder od Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael Gonzalez, Ion John Campeanu, Laurie B. Griffin, Saskia Groenewald, Alleene V. Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar Abdul‐Rahman, Yaping Yang, Susan M. Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H. Németh, Valério Carelli, Taosheng Huang, Stephan Züchner, Julia E. Dallman

    Izdano 2015
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  20. 20
    Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

    Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia od David Pellerin, Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genı́s, Laura Molina‐Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard‐Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin Chalk, Anne‐Louise Lafontaine, François Evoy, Marie‐France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie‐Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario Saporta, Rebecca Schüle, Lüdger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Züchner, Bernard Brais

    Izdano 2022
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