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

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.

dc.contributor.author	Grimmel, Mona
dc.contributor.author	Bevot, Andrea
dc.contributor.author	Buchert, Rebecca
dc.contributor.author	Laugwitz, Lucia
dc.contributor.author	Sturm, Marc
dc.contributor.author	Döbler-Neumann, Marion
dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Müller, Amelie Johanna
dc.contributor.author	Nägele, Thomas
dc.contributor.author	Rieß, Olaf
dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-12-07T10:05:22Z
dc.date.available	2020-12-07T10:05:22Z
dc.date.issued	2020
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/110330
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2020.06.015	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200929220116_00283
utue.publikation.seiten	364-373	de_DE
utue.personen.roh	Husain, Ralf A.
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Wagner, Matias
utue.personen.roh	Hennings, J. Christopher
utue.personen.roh	Marx, Christian
utue.personen.roh	Feichtinger, Rene G.
utue.personen.roh	Saadi, Abdelkrim
utue.personen.roh	Rostasy, Kevin
utue.personen.roh	Radelfahr, Florentine
utue.personen.roh	Bevot, Andrea
utue.personen.roh	Doebler-Neumann, Marion
utue.personen.roh	Hartmann, Hans
utue.personen.roh	Colleaux, Laurence
utue.personen.roh	Cordts, Isabell
utue.personen.roh	Kobeleva, Xenia
utue.personen.roh	Darvish, Hossein
utue.personen.roh	Bakhtiari, Somayeh
utue.personen.roh	Kruer, Michael C.
utue.personen.roh	Besse, Arnaud
utue.personen.roh	Ng, Andy Cheuk-Him
utue.personen.roh	Chiang, Diana
utue.personen.roh	Bolduc, Francois
utue.personen.roh	Tafakhori, Abbas
utue.personen.roh	Mane, Shrikant
utue.personen.roh	Firouzabadi, Saghar Ghasemi
utue.personen.roh	Huebner, Antje K.
utue.personen.roh	Buchert, Rebecca
utue.personen.roh	Beck-Woedl, Stefanie
utue.personen.roh	Mueller, Amelie J.
utue.personen.roh	Laugwitz, Lucia
utue.personen.roh	Naegele, Thomas
utue.personen.roh	Wang, Zhao-Qi
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Sturm, Marc
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Klockgether, Thomas
utue.personen.roh	Riess, Olaf
utue.personen.roh	Klopstock, Thomas
utue.personen.roh	Brandl, Ulrich
utue.personen.roh	Huebner, Christian A.
utue.personen.roh	Deschauer, Marcus
utue.personen.roh	Mayr, Johannes A.
utue.personen.roh	Bonnen, Penelope E.
utue.personen.roh	Kraegeloh-Mann, Ingeborg
utue.personen.roh	Wortmann, Saskia B.
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	107	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE