Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

by Dana M. Bis-Brewer, Dana M. Bis-Brewer, Stephan Züchner, Stephan Züchner
Published 2018-11-01

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

by Vincent Timmerman, Alleene V. Strickland, Stephan Züchner
Published 2014-01-01

No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes

by Maike F. Dohrn, Christina Dumke, Ingo Kurth, Stephan Züchner
Published 2023-04-01

Somatic mtDNA mutation spectra in the aging human putamen.

by Siôn L Williams, Deborah C Mash, Stephan Züchner, Carlos T Moraes
Published 2013-01-01

Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen.

by Siôn L. Williams, Deborah C. Mash, Stephan Züchner, Carlos T. Moraes
Published 2013-12-01

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy

by Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta
Published 2024-08-01

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

by David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Published 2024-01-01

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

by Ana Boulanger, Camille Thinat, Stephan Züchner, Lee G. Fradkin, Hugues Lortat-Jacob, Jean-Maurice Dura
Published 2021-03-01

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

by Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik
Published 2015-10-01

Restoring Shank3 in the rostral brainstem of shank3ab−/− zebrafish autism models rescues sensory deficits

by Robert A. Kozol, David M. James, Ivan Varela, Sureni H. Sumathipala, Stephan Züchner, Julia E. Dallman
Published 2021-12-01

P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

by Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales
Published 2024-01-01

Deep structured learning for variant prioritization in Mendelian diseases

by Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner
Published 2023-07-01

O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

by Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin
Published 2024-01-01

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

by Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews
Published 2023-06-01

COPI-regulated mitochondria-ER contact site formation maintains axonal integrity

by Daniel C. Maddison, Bilal Malik, Leonardo Amadio, Dana M. Bis-Brewer, Stephan Züchner, Owen M. Peters, Gaynor A. Smith
Published 2023-08-01

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

by Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David W Sant, Matt C Danzi, Alexander J Abrams, Julia E Dallman, Stephan Züchner
Published 2020-01-01

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens

by Jeannette Osterloh, Mary Logan, Marc Freeman, Rafael F. Acosta Lebrigio, Rick H. Ulloa, Derek Van Booven, William Hulme, Michael A. Gonzalez, Stephan Zuchner
Published 2012-12-01

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

by Federica Morani, Federica Morani, Stefano Doccini, Giovanna Chiorino, Fabiana Fattori, Daniele Galatolo, Elisa Sciarrillo, Federica Gemignani, Stephan Züchner, Enrico Silvio Bertini, Filippo Maria Santorelli
Published 2021-01-01

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson
Published 2015-01-01

Correction: Exome Sequencing of a Multigenerational Human Pedigree.

by Dale J. Hedges, Dan Burges, Eric Powell, Cherylyn Almonte, Jia Huang, Stuart Young, Benjamin Boese, Mike Schmidt, Margaret A. Pericak-Vance, Eden Martin, Xinmin Zhang, Timothy T. Harkins, Stephan Züchner
Published 2009-01-01