Improved coverage and accuracy with strand-conserving sequence enrichment

Tekijä Guettouche, Toumy, Zuchner, Stephan
Julkaistu 2013

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Tekijä Bis-Brewer, Dana M., Züchner, Stephan
Julkaisussa Front Neurol (2018)

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

Tekijä Timmerman, Vincent, Strickland, Alleene V., Züchner, Stephan
Julkaistu 2014

Regulation of the Epigenome by Vitamin C

Tekijä Young, Juan I., Züchner, Stephan, Wang, Gaofeng
Julkaisussa Annu Rev Nutr (2015)

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

Tekijä Motley, William W., Züchner, Stephan, Scherer, Steven S.
Julkaisussa Neurol Genet (2020)

A Potential Novel Variant of Hereditary Sensory Neuropathy in a 61-Year-Old Man With Cough-Induced Syncope and Vertebral Artery Dissection

Tekijä Lou, Emil, Züchner, Stephan, Vance, Jeffery, Morgenlander, Joel
Julkaistu 2010

A Novel Missense Mutation of CMT2P Alters Transcription Machinery

Tekijä Hu, Bo, Arpag, Sezgi, Zuchner, Stephan, Li, Jun
Julkaisussa Ann Neurol (2016)

Genetic Modifiers and Non-Mendelian Aspects of CMT

Tekijä Bis-Brewer, Dana M., Fazal, Sarah, Züchner, Stephan
Julkaisussa Brain Res (2019)

Somatic mtDNA Mutation Spectra in the Aging Human Putamen

Tekijä Williams, Siôn L., Mash, Deborah C., Züchner, Stephan, Moraes, Carlos T.
Julkaistu 2013

Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen

Tekijä Williams, Siôn L., Mash, Deborah C., Züchner, Stephan, Moraes, Carlos T.
Julkaistu 2013

Innovative genomic collaboration using the GENESIS (GEM.app) platform

Tekijä Gonzalez, Michael, Falk, Marni, Gai, Xiaowu, Schüle, Rebecca, Zuchner, Stephan
Julkaisussa Hum Mutat (2015)

Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man

Tekijä Harada, Yohei, Zuchner, Stephan L., Herrmann, David N., Veerapandiyan, Aravindhan
Julkaisussa Neurology (2020)

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

Tekijä Dankwa, Lois, Richardson, Jessica, Motley, William W., Züchner, Stephan, Scherer, Steven S.
Julkaisussa J Peripher Nerv Syst (2018)

A network biology approach to unraveling inherited axonopathies

Tekijä Bis-Brewer, Dana M., Danzi, Matt C., Wuchty, Stefan, Züchner, Stephan
Julkaisussa Sci Rep (2019)

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

Tekijä Dickson, Kevin M., Gustafson, Christopher B., Young, Juan I., Züchner, Stephan, Wang, Gaofeng
Julkaisussa Biochem Biophys Res Commun (2013)

Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila

Tekijä Neukomm, Lukas J., Burdett, Thomas C., Gonzalez, Michael A., Züchner, Stephan, Freeman, Marc R.
Julkaistu 2014

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

Tekijä Thal, Dietmar R., Züchner, Stephan, Gierer, Stephan, Schulte, Claudia, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis
Julkaisussa Int J Mol Sci (2015)

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Tekijä Maciel, Renata, Bis, Dana M., Rebelo, Adriana P., Saghira, Cima, Züchner, Stephan, Saporta, Mario A.
Julkaisussa Exp Neurol (2018)

Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling

Tekijä Boulanger, Ana, Thinat, Camille, Züchner, Stephan, Fradkin, Lee G., Lortat-Jacob, Hugues, Dura, Jean-Maurice
Julkaisussa Nat Commun (2021)

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

Tekijä Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.
Julkaisussa Am J Hum Genet (2015)