Journal article

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function (MAR, 10.1007/s12035-023-03219-9, 2023)


Authors listHentschel, Andreas; Meyer, Nancy; Kohlschmidt, Nicolai; Gross, Claudia; Sickmann, Albert; Schara-Schmidt, Ulrike; Foerster, Fabian; Topf, Ana; Christiansen, Jon; Horvath, Rita; Vorgerd, Matthias; Thompson, Rachel; Polavarapu, Kiran; Lochmuller, Hanns; Preusse, Corinna; Hannappel, Luis; Schaenzer, Anne; Grueneboom, Anika; Gangfuss, Andrea; Roos, Andreas

Publication year2023

Pages4164-4164

JournalMolecular Neurobiology

Volume number60

Issue number7

ISSN0893-7648

eISSN1559-1182

Open access statusHybrid

DOI Linkhttps://doi.org/10.1007/s12035-023-03319-6

PublisherSpringer



Citation Styles

Harvard Citation styleHentschel, A., Meyer, N., Kohlschmidt, N., Gross, C., Sickmann, A., Schara-Schmidt, U., et al. (2023) A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function (MAR, 10.1007/s12035-023-03219-9, 2023), Molecular Neurobiology, 60(7), p. 4164. https://doi.org/10.1007/s12035-023-03319-6

APA Citation styleHentschel, A., Meyer, N., Kohlschmidt, N., Gross, C., Sickmann, A., Schara-Schmidt, U., Foerster, F., Topf, A., Christiansen, J., Horvath, R., Vorgerd, M., Thompson, R., Polavarapu, K., Lochmuller, H., Preusse, C., Hannappel, L., Schaenzer, A., Grueneboom, A., Gangfuss, A., ...Roos, A. (2023). A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function (MAR, 10.1007/s12035-023-03219-9, 2023). Molecular Neurobiology. 60(7), 4164. https://doi.org/10.1007/s12035-023-03319-6


Last updated on 2025-10-06 at 11:51