Хайлтын үр дүнгүүд - Dana M. Bis‐Brewer

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  1. 1
    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 -н Renata de Moraes Maciel, Dana M. Bis‐Brewer, Adriana Rebelo, Cima Saghira, Stephan Züchner, Mario Saporta

    Хэвлэсэн 2018
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    Artigo
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  2. 2
    Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

    Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation -н Gaynor A. Smith, Tzu-Huai Lin, Amy E. Sheehan, Wynand van der Goes van Naters, Lukas J. Neukomm, Hillary K. Graves, Dana M. Bis‐Brewer, Stephan Züchner, Marc Freeman

    Хэвлэсэн 2019
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    Artigo
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  3. 3
    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 -н 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

    Хэвлэсэн 2016
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    Artigo
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  4. 4
    Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

    Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial -н Lüdger Schöls, Tim W. Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J. Fraidakis, Andrea Martinuzzi, Jonas Alex Morales Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenço, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M. Bis‐Brewer, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle

    Хэвлэсэн 2017
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    Artigo
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  5. 5
    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 -н 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

    Хэвлэсэн 2018
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    Artigo
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  6. 6
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup -н Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Хэвлэсэн 2023
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    Artigo
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  7. 7
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia -н 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

    Хэвлэсэн 2019
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    Artigo
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  8. 8
    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes -н Andrea Cortese, Yi Zhu, Adriana Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis‐Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna Feely, Alkyoni Athanasiou‐Fragkouli, Nourelhoda A. Haridy, Aixa Rodríguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett A. McCray, Brianna Blume, Carly E. Siskind, Charlotte J. Sumner, Daniela Calabrese, David Walk, Dragan Vujović, Eun Hye Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsádi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Perez Quiros Laura, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Sadjadi, Riccardo Zuccarino, Richard S. Finkel, Richard A. Lewis, Rosemary Shy, Sabrina W. Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens‐Spraggins, Tara Jones, Thomas E. Lloyd, Tiffany Grider, Tim Estilow, Vera Fridman, Rosario Isasi, Alaa Khan, Matilde Laurá, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. Sowden, Stefano Tozza, Jana Vandrovcová, Julia E. Dallman, Elena Grignani, Enrico Marchioni, Steven S. Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al‐Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer‐Grumbach, Mohamed A. Abdelhamed, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, Michael E. Shy, R. Grace Zhai, Stephan Züchner

    Хэвлэсэн 2020
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    Artigo
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