Hasil Pencarian - Matthew B Harms

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  1. 1
    Evidence‐based consensus guidelines for ALS genetic testing and counseling

    Evidence‐based consensus guidelines for ALS genetic testing and counseling oleh Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel

    Diterbitkan 2023-11-01
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  2. 2
    Precision genetic cellular models identify therapies protective against ER stress

    Precision genetic cellular models identify therapies protective against ER stress oleh Irina V. Lebedeva, Michelle V. Wagner, Sunil Sahdeo, Yi-Fan Lu, Anuli Anyanwu-Ofili, Matthew B. Harms, Jehangir S. Wadia, Gunaretnam Rajagopal, Michael J. Boland, David B. Goldstein

    Diterbitkan 2021-08-01
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  3. 3
    Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

    Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease oleh Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio

    Diterbitkan 2020-10-01
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  4. 4
    Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

    Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age oleh Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis

    Diterbitkan 2013-10-01
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  5. 5
    Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

    Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS oleh Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J. Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein, Matthew B. Harms

    Diterbitkan 2024-06-01
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  6. 6
    Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders

    Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders oleh Jonathan Gilley, Oscar Jackson, Menelaos Pipis, Mehrdad A Estiar, Ammar Al-Chalabi, Matt C Danzi, Kristel R van Eijk, Stephen A Goutman, Matthew B Harms, Henry Houlden, Alfredo Iacoangeli, Julia Kaye, Leandro Lima, Queen Square Genomics, John Ravits, Guy A Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper-Knock, Ziv Gan-Or, Mary M Reilly, Michael P Coleman

    Diterbitkan 2021-11-01
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