Schwann cell gene therapies in sight von Zuchner, Stephan

Volltext

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

Volltext

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

Volltext

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients von Schüle, Rebecca, Wiethoff, Sarah, Martus, Peter, Karle, Kathrin N., Otto, Susanne, Klebe, Stephan, Klimpe, Sven, Gallenmüller, Constanze, Kurzwelly, Delia, Henkel, Dorothea, Rimmele, Florian, Stolze, Henning, Kohl, Zacharias, Kassubek, Jan, Klockgether, Thomas, Vielhaber, Stefan, Kamm, Christoph, Klopstock, Thomas, Bauer, Peter, Züchner, Stephan, Liepelt-Scarfone, Inga, Schöls, Ludger

Volltext

Charcot‐Marie‐Tooth disease in Africa von Züchner, Stephan, Pareyson, Davide

Volltext

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures von Beijer, Danique, Züchner, Stephan L.

Volltext

Genetic modifiers and non-Mendelian aspects of CMT von Bis-Brewer, Dana M., Fazal, Sarah, Züchner, Stephan

Volltext

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

Volltext

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease von Buglo, Elena, Sarmiento, Evan, Martuscelli, Nicole Belliard, Sant, David W, Danzi, Matt C, Abrams, Alexander J, Dallman, Julia E, Züchner, Stephan

Volltext

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease von Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula

Volltext

Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling von Boulanger, Ana, Thinat, Camille, Züchner, Stephan, Fradkin, Lee G., Lortat-Jacob, Hugues, Dura, Jean-Maurice

Volltext

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport von Maciel, Renata, Bis, Dana M., Rebelo, Adriana P., Saghira, Cima, Züchner, Stephan, Saporta, Mario A.

Volltext

Replication studies of MIR149 association in Charcot–Marie–Tooth disease type 1A in a European population von Tao, Feifei, Züchner, Stephan

Volltext

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders von Gilley, Jonathan, Jackson, Oscar, Pipis, Menelaos, Estiar, Mehrdad A, Al-Chalabi, Ammar, Danzi, Matt C, van Eijk, Kristel R, Goutman, Stephen A, Harms, Matthew B, Houlden, Henry, Iacoangeli, Alfredo, Kaye, Julia, Lima, Leandro, Ravits, John, Rouleau, Guy A, Schüle, Rebecca, Xu, Jishu, Züchner, Stephan, Cooper-Knock, Johnathan, Gan-Or, Ziv, Reilly, Mary M, Coleman, Michael P

Volltext

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway von Osterloh, Jeannette M., Yang, Jing, Rooney, Timothy M., Fox, A. Nicole, Adalbert, Robert, Powell, Eric H., Sheehan, Amy E., Avery, Michelle A., Hackett, Rachel, Logan, Mary A., MacDonald, Jennifer M., Ziegenfuss, Jennifer S., Milde, Stefan, Hou, Ying-Ju, Nathan, Carl, Ding, Aihao, Brown, Robert H., Conforti, Laura, Coleman, Michael, Tessier-Lavigne, Marc, Züchner, Stephan, Freeman, Marc R.

Volltext

A network biology approach to unraveling inherited axonopathies von Bis-Brewer, Dana M., Danzi, Matt C., Wuchty, Stefan, Züchner, Stephan

Volltext

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

Volltext

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein von Farhan, Sali M. K., Howrigan, Daniel P., Abbott, Liam E., Klim, Joseph R., Topp, Simon D., Byrnes, Andrea E., Churchhouse, Claire, Phatnani, Hemali, Smith, Bradley N., Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Mordes, Daniel A., Ghosh, Sulagna, Eggan, Kevin, Rademakers, Rosa, McCauley, Jacob L., Schüle, Rebecca, Züchner, Stephan, Benatar, Michael, Taylor, J. Paul, Nalls, Michael, Gotkine, Marc, Shaw, Pamela J., Morrison, Karen E., Al-Chalabi, Ammar, Traynor, Bryan, Shaw, Christopher E., Goldstein, David B., Harms, Matthew B., Daly, Mark J., Neale, Benjamin M.

Volltext

Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease von Edwards, Todd L., Scott, William K., Almonte, Cherylyn, Burt, Amber, Powell, Eric H., Beecham, Gary W., Wang, Liyong, Züchner, Stephan, Konidari, Ioanna, Wang, Gaofeng, Singer, Carlos, Nahab, Fatta, Scott, Burton, Stajich, Jeffrey M., Pericak‐Vance, Margaret, Haines, Jonathan, Vance, Jeffery M., Martin, Eden R.

Volltext

Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia von Venincasa, Michael J., Randlett, Owen, Sumathipala, Sureni H., Bindernagel, Richard, Stark, Matthew J., Yan, Qing, Sloan, Steven A., Buglo, Elena, Meng, Qing Cheng, Engert, Florian, Züchner, Stephan, Kelz, Max B., Syed, Sheyum, Dallman, Julia E.

Volltext