檢索結果 - Stephan Züchner

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  1. 1
    Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

    Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success 由 Vincent Timmerman, Alleene V. Strickland, Stephan Züchner

    出版 2014
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  2. 2
    Regulation of the Epigenome by Vitamin C

    Regulation of the Epigenome by Vitamin C 由 Juan I. Young, Stephan Züchner, Gaofeng Wang

    出版 2015
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  3. 3
    Somatic mtDNA Mutation Spectra in the Aging Human Putamen

    Somatic mtDNA Mutation Spectra in the Aging Human Putamen 由 Siôn L. Williams, Deborah C. Mash, Stephan Züchner, Carlos T. Moraes

    出版 2013
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  4. 4
    Rapid in vivo forward genetic approach for identifying axon death genes in <i>Drosophila</i>

    Rapid in vivo forward genetic approach for identifying axon death genes in <i>Drosophila</i> 由 Lukas J. Neukomm, Thomas C. Burdett, Michael Gonzalez, Stephan Züchner, Marc Freeman

    出版 2014
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  5. 5
    Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

    Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform 由 Michael Gonzalez, Marni J. Falk, Xiaowu Gai, Richard Postrel, Rebecca Schüle, Stephan Züchner

    出版 2015
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  6. 6
    Ascorbate-induced generation of 5-hydroxymethylcytosine is unaffected by varying levels of iron and 2-oxoglutarate

    Ascorbate-induced generation of 5-hydroxymethylcytosine is unaffected by varying levels of iron and 2-oxoglutarate 由 Kevin M. Dickson, Christopher B. Gustafson, Juan I. Young, Stephan Züchner, Gaofeng Wang

    出版 2013
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  7. 7
    SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

    SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies 由 Eden R. Martin, Daniel D. Kinnamon, Michael A. Schmidt, Eric Powell, Stephan Züchner, Richard Morris

    出版 2010
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  8. 8
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

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

    出版 2024
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  9. 9
    Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

    Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia 由 Wolfgang M. Schmidt, S. Lane Rutledge, Rebecca Schüle, Benjamin Mayerhofer, Stephan Züchner, Eugen Boltshauser, Reginald E. Bittner

    出版 2015
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  10. 10
    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 由 Renata de Moraes Maciel, Dana M. Bis‐Brewer, Adriana Rebelo, Cima Saghira, Stephan Züchner, Mario Saporta

    出版 2018
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  11. 11
    Deep structured learning for variant prioritization in Mendelian diseases

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

    出版 2023
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  12. 12
    Identification of Risk and Age-at-Onset Genes on Chromosome 1p in Parkinson Disease

    Identification of Risk and Age-at-Onset Genes on Chromosome 1p in Parkinson Disease 由 Sofia A. Oliveira, Yi‐Ju Li, Maher Noureddine, Stephan Züchner, Xuejun Qin, Margaret A. Pericak‐Vance, Jeffery M. Vance

    出版 2005
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  13. 13
    Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

    Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints 由 Mary M. Reilly, David N. Herrmann, Davide Pareyson, Steven S. Scherer, Richard S. Finkel, Stephan Züchner, Joshua Burns, Michael E. Shy

    出版 2023
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  14. 14
    Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations

    Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations 由 Laurie B. Griffin, Reiko Sakaguchi, David B. McGuigan, Michael Gonzalez, Charles Searby, Stephan Züchner, Ya‐Ming Hou, Anthony Antonellis

    出版 2014
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  15. 15
    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 由 Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David Sant, Matt C. Danzi, Alexander J. Abrams, Julia E. Dallman, Stephan Züchner

    出版 2020
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  16. 16
    A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease

    A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease 由 Dolzhanskaya, Natalia, Gonzalez, Michael A., Sperziani, Fiorella, Stefl, Shannon, Messing, Jeffrey, Wen, Guang Y, Alexov, Emil, Stephan Zuchner, S, Velinov, Milen

    出版 2014
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  17. 17
    Vitamin D Receptor Gene as a Candidate Gene for Parkinson Disease

    Vitamin D Receptor Gene as a Candidate Gene for Parkinson Disease 由 Megan W. Butler, Amber Burt, Todd L. Edwards, Stephan Züchner, William K. Scott, Eden R. Martin, Jeffery M. Vance, Liyong Wang

    出版 2011
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  18. 18
    GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

    GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis 由 Michael Gonzalez, Rafael F. Acosta Lebrigio, Derek Van Booven, Rick H. Ulloa, Eric Powell, Fiorella Speziani, Mustafa Tekin, Rebecca Schüle, Stephan Züchner

    出版 2013
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  19. 19
    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) 由 Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero-Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, Fiorella Speziani, Lüdger Schöls, Stephan Züchner, Rebecca Schüle

    出版 2013
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  20. 20
    SNPselector: a web tool for selecting SNPs for genetic association studies

    SNPselector: a web tool for selecting SNPs for genetic association studies 由 Hong Xu, Simon G. Gregory, Elizabeth R. Hauser, Judith E. Stenger, Margaret A. Pericak‐Vance, Jeffery M. Vance, Stephan Züchner, Michael A. Hauser

    出版 2005
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