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

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftEuropean Journal of Human Genetics
Volym25
Utgåva3
Sidor (från-till)315-323
Antal sidor9
ISSN1018-4813
DOI
StatusPublicerad - feb 2017
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper
  • 317 Farmaci
  • 1184 Genetik, utvecklingsbiologi, fysiologi
  • 1182 Biokemi, cell- och molekylärbiologi

Citera det här

Kara, Bulent ; Koroglu, Cigdem ; Peltonen, Karita ; Steinberg, Ruchama C. ; Genc, Hulya Maras ; Holtta-Vuori, Maarit ; Guven, Ayse ; Kanerva, Kristiina ; Kotil, Tugba ; Solakoglu, Seyhun ; Zhou, You ; Olkkonen, Vesa M. ; Ikonen, Elina ; Laiho, Marikki ; Tolun, Aslihan. / Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. I: European Journal of Human Genetics. 2017 ; Vol. 25, Nr. 3. s. 315-323.
@article{28e6c41144ae470b8c537044348dc967,
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",
year = "2017",
month = "2",
doi = "10.1038/ejhg.2016.183",
language = "English",
volume = "25",
pages = "315--323",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "3",

}

Kara, B, Koroglu, C, Peltonen, K, Steinberg, RC, Genc, HM, Holtta-Vuori, M, Guven, A, Kanerva, K, Kotil, T, Solakoglu, S, Zhou, Y, Olkkonen, VM, Ikonen, E, Laiho, M & Tolun, A 2017, 'Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A' European Journal of Human Genetics, vol. 25, nr. 3, s. 315-323. https://doi.org/10.1038/ejhg.2016.183

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. / Kara, Bulent; Koroglu, Cigdem; Peltonen, Karita; Steinberg, Ruchama C.; Genc, Hulya Maras; Holtta-Vuori, Maarit; Guven, Ayse; Kanerva, Kristiina; Kotil, Tugba; Solakoglu, Seyhun; Zhou, You; Olkkonen, Vesa M.; Ikonen, Elina; Laiho, Marikki; Tolun, Aslihan.

I: European Journal of Human Genetics, Vol. 25, Nr. 3, 02.2017, s. 315-323.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

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

VL - 25

SP - 315

EP - 323

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 3

ER -