Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
Ralf A. Husain, Tobias B. Haack(University of Tübingen), Amelie J. Müller(University of Tübingen), Thomas Meitinger(Ludwig-Maximilians-Universität München), Marcus Deschauer(Technical University of Munich), Hans Hartmann(Medizinische Hochschule Hannover), Laurence Colleaux(Inserm), Abbas Tafakhori(Tehran University of Medical Sciences), Andy Cheuk‐Him Ng(University of Alberta), Thomas Klopstock(Ludwig-Maximilians-Universität München), Thomas Klockgether(Allen Institute for Brain Science), Christian Marx(Leibniz Institute on Aging - Fritz Lipmann Institute (FLI)), Michael C. Kruer(Sanford Research), Mona Grimmel(University of Tübingen), Stefanie Beck‐Woedl(University of Tübingen), Lucia Laugwitz(University Children's Hospital Tübingen), Kevin Rostásy(Witten/Herdecke University), Shrikant Mane(Yale Cancer Center), Florentine Radelfahr(German Center for Neurodegenerative Diseases), Matias Wagner(Helmholtz Zentrum München), Xenia Kobeleva(University of Bonn), Marion Döbler‐Neumann(University Children's Hospital Tübingen), Arnaud Besse(The University of Texas MD Anderson Cancer Center), Olaf Rieß(STZ eyetrial), Rebecca Buchert(Institute of Human Genetics), Ingeborg Krägeloh‐Mann(University Children's Hospital Tübingen), René G. Feichtinger(Paracelsus Medical University), Johannes A. Mayr(Paracelsus Medical University), Ulrich Brandl(Jena University Hospital), Penelope E. Bonnen(Baylor College of Medicine), François V. Bolduc(A.S. Watson (Netherlands)), Isabell Cordts(Technical University of Munich), Marc Sturm(University of Tübingen), J. Christopher Hennings(Jena University Hospital), Zhao‐Qi Wang(Leibniz Institute on Aging - Fritz Lipmann Institute (FLI)), Hossein Darvish(University of Social Welfare and Rehabilitation Sciences), Abdelkrim Saadi(University of Algiers Benyoucef Benkhedda), Thomas Nägele, Antje K. Huebner(Jena University Hospital), Saskia B. Wortmann(Radboud University Medical Center), Christian A. Hübner(Jena University Hospital), Andrea Bevot(University Children's Hospital Tübingen), Somayeh Bakhtiari(Barrow Neurological Institute), Diana Chiang(University of Alberta), Tim M. Strom(Ludwig-Maximilians-Universität München), Saghar Ghasemi Firouzabadi(University of Social Welfare and Rehabilitation Sciences)
Cited by 54
Related Papers
A clinical approach to diagnosis of autoimmune encephalitis
|The Lancet Neurology|2016|4.4k
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
|Neuron|2015|1.5k
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
|Neuron|2011|1.3k