Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

Tarja Linnankivi; Nirajan Neupane; Uwe Richter; Pirjo Isohanni; Henna Tyynismaa

doi:10.1002/humu.23021

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

Tarja Linnankivi, Nirajan Neupane, Uwe Richter, Pirjo Isohanni, Henna Tyynismaa

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Human Mutation
Volume	37
Issue number	9
Pages (from-to)	884-888
Number of pages	5
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.23021
Publication status	Published - Sep 2016
MoE publication type	A1 Journal article-refereed

Fields of Science

SARS2
aminoacyl-tRNA synthetase
seryl-tRNA synthetase
splicing defect
spastic paresis
SPINAL-CORD INVOLVEMENT
HUMAN-DISEASE
BRAIN-STEM
MUTATIONS
TRNA(SER(AGY))
RECOGNITION
DEFICIENCY
TRNAS(SER)
EPILEPSY
1184 Genetics, developmental biology, physiology
3111 Biomedicine

Access to Document

10.1002/humu.23021

Cite this

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title = "Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome",

keywords = "SARS2, aminoacyl-tRNA synthetase, seryl-tRNA synthetase, splicing defect, spastic paresis, SPINAL-CORD INVOLVEMENT, HUMAN-DISEASE, BRAIN-STEM, MUTATIONS, TRNA(SER(AGY)), RECOGNITION, DEFICIENCY, TRNAS(SER), EPILEPSY, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine",

author = "Tarja Linnankivi and Nirajan Neupane and Uwe Richter and Pirjo Isohanni and Henna Tyynismaa",

year = "2016",

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language = "English",

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journal = "Human Mutation",

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publisher = "John Wiley & Sons, Ltd",

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T1 - Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

AU - Linnankivi, Tarja

AU - Neupane, Nirajan

AU - Richter, Uwe

AU - Isohanni, Pirjo

AU - Tyynismaa, Henna

PY - 2016/9

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KW - spastic paresis

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KW - HUMAN-DISEASE

KW - BRAIN-STEM

KW - MUTATIONS

KW - TRNA(SER(AGY))

KW - RECOGNITION

KW - DEFICIENCY

KW - TRNAS(SER)

KW - EPILEPSY

KW - 1184 Genetics, developmental biology, physiology

KW - 3111 Biomedicine

U2 - 10.1002/humu.23021

DO - 10.1002/humu.23021

M3 - Article

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SP - 884

EP - 888

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

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ER -