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2022
Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muinos-Buehl, Anixa, Storbeck, Markus, Boixet, Jordina Guillen, Barresi, Sabina, Pizzi, Simone, Hoelker, Irmgard, Koerber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd 
ORCID: 0000-0003-1618-7386, Alberti, Simon, Tartaglia, Marco and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2022).
CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia.
Cell. Mol. Life Sci., 79 (10).
BASEL:
SPRINGER BASEL AG.
ISSN 1420-9071
Schorling, David C., Koelbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schara-Schmidt, Ulrike, Lochmuller, Hanns and Roos, Andreas
(2022).
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur. J. Neurol., 29 (7).
S. 2084 - 2097.
HOBOKEN:
WILEY.
ISSN 1468-1331