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Stephan Züchner

Showing results (121-130 of 198) with videos related to

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Annals of Human Genetics|July 13, 2013
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson diseaseKaren Nuytemans, Güney Bademci, Martin M Kohli, et al.
Plos One|August 31, 2013
Characterization of SLITRK1 variation in obsessive-compulsive disorderUzoezi Ozomaro, Guiqing Cai, Yuji Kajiwara, et al.
Human Mutation|April 12, 2011
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Byung-Ok Choi, Sung Hee Kang, Young Se Hyun, et al.
Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Brain Communications|March 18, 2024
Dominant <i>NARS1</i> mutations causing axonal Charcot-Marie-Tooth disease expand <i>NARS1</i>-associated diseasesDanique Beijer, Sheila Marte, Jiaxin C Li, et al.
Human Molecular Genetics|May 20, 2014
A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnoverOlivia S Long, Joshua A Benson, Joon Hyeok Kwak, et al.
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
Brain : a Journal of Neurology|May 21, 2016
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrumInès Mademan, Florian Harmuth, Ilaria Giordano, et al.
Pageof 20

Showing results (121-130 of 198) with videos related to

Sort By:
Pageof 20
Annals of Human Genetics|July 13, 2013
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson diseaseKaren Nuytemans, Güney Bademci, Martin M Kohli, et al.
Plos One|August 31, 2013
Characterization of SLITRK1 variation in obsessive-compulsive disorderUzoezi Ozomaro, Guiqing Cai, Yuji Kajiwara, et al.
Human Mutation|April 12, 2011
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Byung-Ok Choi, Sung Hee Kang, Young Se Hyun, et al.
Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
American Journal of Human Genetics|December 4, 2014
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegenerationMatthis Synofzik, Tobias B Haack, Robert Kopajtich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Brain Communications|March 18, 2024
Dominant <i>NARS1</i> mutations causing axonal Charcot-Marie-Tooth disease expand <i>NARS1</i>-associated diseasesDanique Beijer, Sheila Marte, Jiaxin C Li, et al.
Human Molecular Genetics|May 20, 2014
A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnoverOlivia S Long, Joshua A Benson, Joon Hyeok Kwak, et al.
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
Brain : a Journal of Neurology|May 21, 2016
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrumInès Mademan, Florian Harmuth, Ilaria Giordano, et al.
Pageof 20