Home > Publications Database > Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia. > print

001     163926
005     20240122111934.0
024 7 _ |a 10.1016/j.parkreldis.2020.10.004
|2 doi
024 7 _ |a pmid:33049588
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024 7 _ |a 1353-8020
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024 7 _ |a 1873-5126
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037 _ _ |a DZNE-2022-00603
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Miranda, Marcelo
|b 0
245 _ _ |a Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.
260 _ _ |a Amsterdam [u.a.]
|c 2020
|b Elsevier Science
336 7 _ |a article
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650 _ 7 |a ATP13A2
|2 Other
650 _ 7 |a Kufor-Rakeb syndrome
|2 Other
650 _ 7 |a Parkinsonism
|2 Other
650 _ 7 |a SPG78
|2 Other
650 _ 7 |a Spastic paraplegia
|2 Other
650 _ 7 |a ATP13A2 protein, human
|2 NLM Chemicals
650 _ 7 |a Proton-Translocating ATPases
|0 EC 3.6.3.14
|2 NLM Chemicals
650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Ataxia: physiopathology
|2 MeSH
650 _ 2 |a Cognitive Dysfunction: physiopathology
|2 MeSH
650 _ 2 |a Cognitive Dysfunction: psychology
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Motor Neuron Disease: physiopathology
|2 MeSH
650 _ 2 |a Muscle Spasticity: physiopathology
|2 MeSH
650 _ 2 |a Ocular Motility Disorders: physiopathology
|2 MeSH
650 _ 2 |a Parkinsonian Disorders: genetics
|2 MeSH
650 _ 2 |a Parkinsonian Disorders: physiopathology
|2 MeSH
650 _ 2 |a Parkinsonian Disorders: psychology
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
650 _ 2 |a Proton-Translocating ATPases: genetics
|2 MeSH
650 _ 2 |a Psychotic Disorders: physiopathology
|2 MeSH
650 _ 2 |a Psychotic Disorders: psychology
|2 MeSH
650 _ 2 |a Siblings
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: genetics
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: physiopathology
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: psychology
|2 MeSH
650 _ 2 |a Young Adult
|2 MeSH
700 1 _ |a Harmuth, Florian
|b 1
700 1 _ |a Bustamante, M Leonor
|b 2
700 1 _ |a Rossi, Malco
|b 3
700 1 _ |a Sturm, Marc
|b 4
700 1 _ |a Magnusson, Ólafur Th
|b 5
700 1 _ |a Bauer, Peter
|b 6
700 1 _ |a Klockgether, Thomas
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700 1 _ |a Ramirez, Alfredo
|0 P:(DE-2719)2812825
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773 _ _ |a 10.1016/j.parkreldis.2020.10.004
|g Vol. 81, p. 45 - 47
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|t Parkinsonism & related disorders
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|y 2020
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856 4 _ |u https://pub.dzne.de/record/163926/files/DZNE-2022-00603_Restricted.pdf
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