%0 Journal Article
%A Miranda, Marcelo
%A Harmuth, Florian
%A Bustamante, M Leonor
%A Rossi, Malco
%A Sturm, Marc
%A Magnusson, Ólafur Th
%A Bauer, Peter
%A Klockgether, Thomas
%A Ramirez, Alfredo
%T Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
%J Parkinsonism & related disorders
%V 81
%@ 1353-8020
%C Amsterdam [u.a.]
%I Elsevier Science
%M DZNE-2022-00603
%P 45 - 47
%D 2020
%K Adolescent
%K Ataxia: physiopathology
%K Cognitive Dysfunction: physiopathology
%K Cognitive Dysfunction: psychology
%K Female
%K Humans
%K Male
%K Motor Neuron Disease: physiopathology
%K Muscle Spasticity: physiopathology
%K Ocular Motility Disorders: physiopathology
%K Parkinsonian Disorders: genetics
%K Parkinsonian Disorders: physiopathology
%K Parkinsonian Disorders: psychology
%K Phenotype
%K Proton-Translocating ATPases: genetics
%K Psychotic Disorders: physiopathology
%K Psychotic Disorders: psychology
%K Siblings
%K Spastic Paraplegia, Hereditary: genetics
%K Spastic Paraplegia, Hereditary: physiopathology
%K Spastic Paraplegia, Hereditary: psychology
%K Young Adult
%K ATP13A2 (Other)
%K Kufor-Rakeb syndrome (Other)
%K Parkinsonism (Other)
%K SPG78 (Other)
%K Spastic paraplegia (Other)
%K ATP13A2 protein, human (NLM Chemicals)
%K Proton-Translocating ATPases (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33049588
%R 10.1016/j.parkreldis.2020.10.004
%U https://pub.dzne.de/record/163926