Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

Bulent Kara; Cigdem Koroglu; Karita Peltonen; Ruchama C. Steinberg; Hulya Maras Genc; Maarit Holtta-Vuori; Ayse Guven; Kristiina Kanerva; Tugba Kotil; Seyhun Solakoglu; You Zhou; Vesa M. Olkkonen; Elina Ikonen; Marikki Laiho; Aslihan Tolun

doi:10.1038/ejhg.2016.183

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

Bulent Kara, Cigdem Koroglu, Karita Peltonen, Ruchama C. Steinberg, Hulya Maras Genc, Maarit Holtta-Vuori, Ayse Guven, Kristiina Kanerva, Tugba Kotil, Seyhun Solakoglu, You Zhou, Vesa M. Olkkonen, Elina Ikonen, Marikki Laiho, Aslihan Tolun

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

Original language	English
Journal	European Journal of Human Genetics
Volume	25
Issue number	3
Pages (from-to)	315-323
Number of pages	9
ISSN	1018-4813
DOIs	https://doi.org/10.1038/ejhg.2016.183
Publication status	Published - Feb 2017
MoE publication type	A1 Journal article-refereed

Fields of Science

RNA-POLYMERASE-I
III CAUSE
LEUKODYSTROPHY
CHOLESTEROL
PREDICTION
TRANSPORT
PROTEINS
SUBUNITS
FAMILY
GENES
3111 Biomedicine
317 Pharmacy
1184 Genetics, developmental biology, physiology
1182 Biochemistry, cell and molecular biology

Access to Document

10.1038/ejhg.2016.183

Cite this

Kara, B., Koroglu, C., Peltonen, K., Steinberg, R. C., Genc, H. M., Holtta-Vuori, M., Guven, A., Kanerva, K., Kotil, T., Solakoglu, S., Zhou, Y., Olkkonen, V. M., Ikonen, E., Laiho, M., & Tolun, A. (2017). Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. European Journal of Human Genetics, 25(3), 315-323. https://doi.org/10.1038/ejhg.2016.183

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title = "Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A",

keywords = "RNA-POLYMERASE-I, III CAUSE, LEUKODYSTROPHY, CHOLESTEROL, PREDICTION, TRANSPORT, PROTEINS, SUBUNITS, FAMILY, GENES, 3111 Biomedicine, 317 Pharmacy, 1184 Genetics, developmental biology, physiology, 1182 Biochemistry, cell and molecular biology",

author = "Bulent Kara and Cigdem Koroglu and Karita Peltonen and Steinberg, {Ruchama C.} and Genc, {Hulya Maras} and Maarit Holtta-Vuori and Ayse Guven and Kristiina Kanerva and Tugba Kotil and Seyhun Solakoglu and You Zhou and Olkkonen, {Vesa M.} and Elina Ikonen and Marikki Laiho and Aslihan Tolun",

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doi = "10.1038/ejhg.2016.183",

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pages = "315--323",

journal = "European Journal of Human Genetics",

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T1 - Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

AU - Kara, Bulent

AU - Koroglu, Cigdem

AU - Peltonen, Karita

AU - Steinberg, Ruchama C.

AU - Genc, Hulya Maras

AU - Holtta-Vuori, Maarit

AU - Guven, Ayse

AU - Kanerva, Kristiina

AU - Kotil, Tugba

AU - Solakoglu, Seyhun

AU - Zhou, You

AU - Olkkonen, Vesa M.

AU - Ikonen, Elina

AU - Laiho, Marikki

AU - Tolun, Aslihan

PY - 2017/2

Y1 - 2017/2

KW - RNA-POLYMERASE-I

KW - III CAUSE

KW - LEUKODYSTROPHY

KW - CHOLESTEROL

KW - PREDICTION

KW - TRANSPORT

KW - PROTEINS

KW - SUBUNITS

KW - FAMILY

KW - GENES

KW - 3111 Biomedicine

KW - 317 Pharmacy

KW - 1184 Genetics, developmental biology, physiology

KW - 1182 Biochemistry, cell and molecular biology

U2 - 10.1038/ejhg.2016.183

DO - 10.1038/ejhg.2016.183

M3 - Article

SN - 1018-4813

VL - 25

SP - 315

EP - 323

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -