Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

Autor: Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos

The original version of this article unfortunately contained mistake. One of the author name was missspelled during revision and finalization of the manuscript. Dr. Kiran Polavarapu's surname "Polaparapu" should be spelled "Polavarapu". The original

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ec3b2e90f12cf9ae2482b08593f490
https://www.ncbi.nlm.nih.gov/pubmed/36941504

Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRS

Autor: Frederik, Braun, Andreas, Hentschel, Albert, Sickmann, Theodore, Marteau, Swantje, Hertel, Fabian, Förster, Holger, Prokisch, Matias, Wagner, Saskia, Wortmann, Adela, Della Marina, Heike, Kölbel, Andreas, Roos, Ulrike, Schara-Schmidt

Publikováno v: Int. J. Mol. Sci. 22:7835 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences, Vol 22, Iss 7835, p 7835 (2021)

Mutations in the SPATA5 gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::595ad329dd7fe57850ae3f54b168820b
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62665