Journal Article (Letter)

DZNE-2022-00603

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.

Miranda, M. ; Harmuth, F. ; Bustamante, M. L. ; Rossi, M. ; Sturm, M. ; Magnusson, Ó. T. ; Bauer, P. ; Klockgether, T.DZNE* ; Ramirez, A. (Last author)DZNE*

2020
Elsevier Science Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.parkreldis.2020.10.004

Keyword(s): Adolescent (MeSH) ; Ataxia: physiopathology (MeSH) ; Cognitive Dysfunction: physiopathology (MeSH) ; Cognitive Dysfunction: psychology (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Motor Neuron Disease: physiopathology (MeSH) ; Muscle Spasticity: physiopathology (MeSH) ; Ocular Motility Disorders: physiopathology (MeSH) ; Parkinsonian Disorders: genetics (MeSH) ; Parkinsonian Disorders: physiopathology (MeSH) ; Parkinsonian Disorders: psychology (MeSH) ; Phenotype (MeSH) ; Proton-Translocating ATPases: genetics (MeSH) ; Psychotic Disorders: physiopathology (MeSH) ; Psychotic Disorders: psychology (MeSH) ; Siblings (MeSH) ; Spastic Paraplegia, Hereditary: genetics (MeSH) ; Spastic Paraplegia, Hereditary: physiopathology (MeSH) ; Spastic Paraplegia, Hereditary: psychology (MeSH) ; Young Adult (MeSH) ; ATP13A2 ; Kufor-Rakeb syndrome ; Parkinsonism ; SPG78 ; Spastic paraplegia ; ATP13A2 protein, human ; Proton-Translocating ATPases

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Contributing Institute(s):

1. Patient Studies Bonn (Patient Studies Bonn)
2. Patient Studies (AG Klockgether)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2020

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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