Результаты поиска - Matt C. Danzi

Отмена результатов
  1. 1
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

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

    Опубликовано 2024
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    Revisão
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  2. 2
    Deep structured learning for variant prioritization in Mendelian diseases

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

    Опубликовано 2023
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    Artigo
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  3. 3
    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 по Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David Sant, Matt C. Danzi, Alexander J. Abrams, Julia E. Dallman, Stephan Züchner

    Опубликовано 2020
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    Artigo
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  4. 4
    Opposing Functions of Microglial and Macrophagic TNFR2 in the Pathogenesis of Experimental Autoimmune Encephalomyelitis

    Opposing Functions of Microglial and Macrophagic TNFR2 in the Pathogenesis of Experimental Autoimmune Encephalomyelitis по Han Gao, Matt C. Danzi, Claire Choi, Mehran Taherian, Camilla Dalby Hansen, Ditte Gry Ellman, Pernille M. Madsen, John L. Bixby, Vance Lemmon, Kate Lykke Lambertsen, Roberta Brambilla

    Опубликовано 2017
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    Artigo
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  5. 5
    A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

    A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease по Michael Gonzalez, Shawna Feely, Fiorella Speziani, Alleene V. Strickland, Matt C. Danzi, Chelsea Bacon, Youjin Lee, Tsui‐Fen Chou, Susan H. Blanton, Conrad C. Weihl, Stephan Züchner, Michael E. Shy

    Опубликовано 2014
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    Artigo
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  6. 6
    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients по Catherine Ashton, Elisabetta Indelicato, David Pellerin, Guillemette Clément, Matt C. Danzi, Marie‐Josée Dicaire, Céline Bonnet, Henry Houlden, Stephan Züchner, Matthis Synofzik, Phillipa J. Lamont, M. Renaud, Sylvia Boesch, Bernard Brais

    Опубликовано 2023
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    Artigo
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  7. 7
    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 по 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

    Опубликовано 2021
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    Artigo
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  8. 8
    RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

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

    Опубликовано 2024
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    Artigo
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  9. 9
    The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations

    The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations по Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Marie‐Josée Dicaire, Matt C. Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Μάριος Πάνας, Leonidas Stefanis, Stephan Züchner, Bernard Brais, Henry Houlden, Georgia Karadima, Georgios Koutsis

    Опубликовано 2024
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    Artigo
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  10. 10
    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 по Francesco De Virgiliis, Thomas H. Hutson, Ilaria Palmisano, Sarah Amachree, Jian Miao, Luming Zhou, R. Todorova, Richard J. Thompson, Matt C. Danzi, Vance Lemmon, John L. Bixby, Ilka Wittig, Ajay M. Shah, Simone Di Giovanni

    Опубликовано 2020
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    Artigo
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  11. 11
    Thrombospondin-1 Mediates Axon Regeneration in Retinal Ganglion Cells

    Thrombospondin-1 Mediates Axon Regeneration in Retinal Ganglion Cells по Eric R. Bray, Benjamin J. Yungher, Konstantin Levay, Márcio Ribeiro, Gennady Dvoryanchikov, Ana C. Ayupe, Kinjal Thakor, Victoria S. Marks, Michael Randolph, Matt C. Danzi, Tiffany M. Schmidt, Nirupa Chaudhari, Vance Lemmon, Samer Hattar, Kevin K. Park

    Опубликовано 2019
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    Artigo
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  12. 12
    Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity

    Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity по Matt C. Danzi, Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd, Chloe M. Reuter, Jacinda B. Sampson, Chiara Folland, Matthew L. Wheeler, Anne O’Donnell‐Luria, Stefan Wuchty, Gianina Ravenscroft, Michael A. Eberle, Stephan Züchner

    Опубликовано 2025
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    Pré-impressão
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  13. 13
    GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

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

    Опубликовано 2024
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    Artigo
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  14. 14
    The gut metabolite indole-3 propionate promotes nerve regeneration and repair

    The gut metabolite indole-3 propionate promotes nerve regeneration and repair по Elisabeth Serger, L. Gutiérrez, Jessica Chadwick, Guiping Kong, Luming Zhou, Greg Crawford, Matt C. Danzi, Antonis Myridakis, Alexander Brandis, Adesola T. Bello, Franziska Müller, Alexandros Sanchez-Vassopoulos, Francesco De Virgiliis, Phoebe Liddell, Marc‐Emmanuel Dumas, Jessica Strid, Sridhar Mani, Dylan Dodd, Simone Di Giovanni

    Опубликовано 2022
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    Artigo
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  15. 15
    Reversible CD8 T cell–neuron cross-talk causes aging-dependent neuronal regenerative decline

    Reversible CD8 T cell–neuron cross-talk causes aging-dependent neuronal regenerative decline по Luming Zhou, Guiping Kong, Ilaria Palmisano, Maria Teresa Cencioni, Matt C. Danzi, Francesco De Virgiliis, Jessica Chadwick, Greg Crawford, Zicheng Yu, Fred de Winter, Vance Lemmon, John L. Bixby, Radhika Puttagunta, Joost Verhaagen, Constandina Pospori, Cristina Lo Celso, Jessica Strid, Marina Botto, Simone Di Giovanni

    Опубликовано 2022
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    Artigo
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  16. 16
    PP4‐dependent HDAC3 dephosphorylation discriminates between axonal regeneration and regenerative failure

    PP4‐dependent HDAC3 dephosphorylation discriminates between axonal regeneration and regenerative failure по Arnau Hervera, Luming Zhou, Ilaria Palmisano, Eilidh McLachlan, Guiping Kong, Thomas H. Hutson, Matt C. Danzi, Vance Lemmon, John L. Bixby, Andreu Matamoros‐Angles, Kirsi Forsberg, Francesco De Virgiliis, Dina P. Matheos, Janine L. Kwapis, Marcelo A. Wood, Radhika Puttagunta, José Antonio del Rı́o, Simone Di Giovanni

    Опубликовано 2019
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    Artigo
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  17. 17
    Epigenomic signatures underpin the axonal regenerative ability of dorsal root ganglia sensory neurons

    Epigenomic signatures underpin the axonal regenerative ability of dorsal root ganglia sensory neurons по Ilaria Palmisano, Matt C. Danzi, Thomas H. Hutson, Luming Zhou, Eilidh McLachlan, Elisabeth Serger, Kirill Shkura, Prashant K. Srivastava, Arnau Hervera, Nick O’ Neill, Tong Liu, Hassen Dhrif, Zheng Wang, Miroslav Kubát, Stefan Wuchty, Matthias Merkenschlager, Liron Levi, Evan Elliott, John L. Bixby, Vance Lemmon, Simone Di Giovanni

    Опубликовано 2019
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    Artigo
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  18. 18
    Resolving the unsolved: Comprehensive assessment of tandem repeats at scale

    Resolving the unsolved: Comprehensive assessment of tandem repeats at scale по Egor Dolzhenko, Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell, Caitlin Karniski, Zev Kronenberg, Matt C. Danzi, Warren Cheung, Chengpeng Bi, Emily Farrow, Aaron M. Wenger, Verónica Martínez‐Cerdeño, Trevor Bartley, Peng Jin, David L. Nelson, Stephan Züchner, Tomi Pastinen, Aaron R. Quinlan, Fritz J. Sedlazeck, Michael A. Eberle

    Опубликовано 2023
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  19. 19
    Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

    Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia по Luiz Eduardo Novis, Rodrigo Siqueira Soares Frezatti, David Pellerin, Pedro José Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie‐Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini, Andrea Cortese, Matt C. Danzi, Marcondes C. França, Bernard Brais, Stephan Züchner, Henry Houlden, Salmo Raskin, Wilson Marques, Hélio Afonso Ghizoni Teive

    Опубликовано 2023
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    Artigo
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  20. 20
    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 по 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 de Araújo Lima, John Ravits, Guy A. Rouleau, Rebecca Schüle, Jishu Xu, Stephan Züchner, Johnathan Cooper‐Knock, Ziv Gan‐Or, Mary M. Reilly, Michael P. Coleman

    Опубликовано 2021
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    Artigo
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