ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies

por Christiansen, Jon, Güttsches, Anne-Katrin, Schara-Schmidt, Ulrike, Vorgerd, Matthias, Heute, Christoph, Preusse, Corinna, Stenzel, Werner, Roos, Andreas
Publicado 2022

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

por Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Publicado 2023

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

por Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, Andreas
Publicado 2023