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Journal Article
Miranda, Marcelo, Harmuth, Florian, Leonor Bustamante, M., Rossi, Malco, Sturm, Marc 
ORCID: 0000-0002-6552-8362, Magnusson, Olafur Th, Bauer, Peter, Klockgether, Thomas and Ramirez, Alfredo ORCID: 0000-0003-4991-763X
(2020).
Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
Parkinsonism Relat. Disord., 81.
S. 45 - 48.
OXFORD:
ELSEVIER SCI LTD.
ISSN 1873-5126
Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stoebe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan ORCID: 0000-0002-7416-9568, Schwaibold, Eva M. C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten and Haack, Tobias B.
(2022).
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Neurol.-Genet., 8 (1).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 2376-7839