Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Author: Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Mueller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B.; Haack, Tobias B.
Tübinger Autor(en):
Grimmel, Mona
Bevot, Andrea
Buchert, Rebecca
Laugwitz, Lucia
Sturm, Marc
Döbler-Neumann, Marion
Beck-Wödl, Stefanie
Müller, Amelie Johanna
Nägele, Thomas
Rieß, Olaf
Krägeloh-Mann, Ingeborg
Haack, Tobias
Published in: American Journal of Human Genetics (2020), Bd. 107, H. 2, S. 364-373
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2020.06.015
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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