Hasil Pencarian - Matt C. Danzi

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  1. 1
    Beyond degree and betweenness centrality: Alternative topological measures to predict viral targets.

    Beyond degree and betweenness centrality: Alternative topological measures to predict viral targets. oleh Prajwal Devkota, Matt C Danzi, Stefan Wuchty

    Diterbitkan 2018-01-01
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  2. 2
    Treatment with analgesics after mouse sciatic nerve injury does not alter expression of wound healing-associated genes

    Treatment with analgesics after mouse sciatic nerve injury does not alter expression of wound healing-associated genes oleh Matt C Danzi, Dario Motti, Donna L Avison, John L Bixby, Vance P Lemmon

    Diterbitkan 2016-01-01
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  3. 3
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia oleh David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais

    Diterbitkan 2024-01-01
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  4. 4
    Deep structured learning for variant prioritization in Mendelian diseases

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

    Diterbitkan 2023-07-01
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  5. 5
    Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.

    Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. oleh Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David W Sant, Matt C Danzi, Alexander J Abrams, Julia E Dallman, Stephan Züchner

    Diterbitkan 2020-01-01
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  6. 6
    Identification of genome-wide targets of Olig2 in the adult mouse spinal cord using ChIP-Seq.

    Identification of genome-wide targets of Olig2 in the adult mouse spinal cord using ChIP-Seq. oleh Andrew J Darr, Matt C Danzi, Lee Brady, Dorothea Emig-Agius, Amber Hackett, Roozbeh Golshani, Nikita Warner, Jae Lee, Vance P Lemmon, Pantelis Tsoulfas

    Diterbitkan 2017-01-01
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  7. 7
    RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

    RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci oleh Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido

    Diterbitkan 2024-01-01
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  8. 8
    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism oleh Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner

    Diterbitkan 2024-04-01
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  9. 9
    Enriched conditioning expands the regenerative ability of sensory neurons after spinal cord injury via neuronal intrinsic redox signaling

    Enriched conditioning expands the regenerative ability of sensory neurons after spinal cord injury via neuronal intrinsic redox signaling oleh Francesco De Virgiliis, Thomas H. Hutson, Ilaria Palmisano, Sarah Amachree, Jian Miao, Luming Zhou, Rositsa Todorova, Richard Thompson, Matt C. Danzi, Vance P. Lemmon, John L. Bixby, Ilka Wittig, Ajay M. Shah, Simone Di Giovanni

    Diterbitkan 2020-12-01
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  10. 10
    GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context

    GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context oleh David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik

    Diterbitkan 2024-04-01
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  11. 11
    The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyResearch in context

    The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyResearch in context oleh Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang

    Diterbitkan 2024-04-01
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  12. 12
    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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  13. 13
    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B oleh Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anais Grosset, Ines Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie-Josée Dicaire, François Evoy, Marie-France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Zuchner, Bernard Brais, Mathilde Renaud

    Diterbitkan 2023-06-01
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  14. 14
    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats oleh Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

    Diterbitkan 2022-08-01
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