Litcius/Paper detail

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

Ralf A. Husain, Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler‐Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Arnaud Besse, Andy Cheuk‐Him Ng, Diana Chiang, François V. Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K. Huebner, Rebecca Buchert, Stefanie Beck‐Woedl, Amelie J. Müller, Lucia Laugwitz, Thomas Nägele, Zhao‐Qi Wang, Tim M. Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Rieß, Thomas Klopstock, Ulrich Brandl, Christian A. Hübner, Marcus Deschauer, Johannes A. Mayr, Penelope E. Bonnen, Ingeborg Krägeloh‐Mann, Saskia B. Wortmann, Tobias B. Haack

2020The American Journal of Human Genetics54 citationsDOIOpen Access PDF

Topics & Concepts

MedicineSpasticParaplegiaAlleleHereditary spastic paraplegiaEncephalopathyDiseaseCerebral palsyPediatricsBiologyGeneticsInternal medicinePhysical therapyPsychiatryPhenotypeGeneSpinal cordNeurological diseases and metabolismMetabolism and Genetic DisordersGlycogen Storage Diseases and Myoclonus