Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat; Karin Naess; Martin Engvall; Claus Klingenberg; Magnhild Rasmussen; Chantal M. E. Tallaksen; Eylert Brodtkorb; Elsebet Ostergaard; I. F. M. de Coo; Leticia Pias-Peleteiro; Pirjo Isohanni; Johanna Uusimaa; Niklas Darin; Shamima Rahman; Laurence A. Bindoff

doi:10.1002/jimd.12211

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Eylert Brodtkorb, Elsebet Ostergaard, I. F. M. de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff

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

Original language	English
Journal	Journal of Inherited Metabolic Disease
Volume	43
Issue number	4
Pages (from-to)	726-736
Number of pages	11
ISSN	0141-8955
DOIs	https://doi.org/10.1002/jimd.12211
Publication status	Published - Jul 2020
MoE publication type	A1 Journal article-refereed

Fields of Science

Alpers syndrome
epilepsy
mitochondrial disease
POLG
stroke-like episodes
MUTATIONS
SPECTRUM
PARKINSONISM
3112 Neurosciences
1184 Genetics, developmental biology, physiology
3121 General medicine, internal medicine and other clinical medicine

Access to Document

10.1002/jimd.12211

jimd.12211Final published version, 3.52 MBLicence: CC BY

Cite this

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Ostergaard, E., de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S., & Bindoff, L. A. (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Journal of Inherited Metabolic Disease, 43(4), 726-736. https://doi.org/10.1002/jimd.12211

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title = "Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases",

keywords = "Alpers syndrome, epilepsy, mitochondrial disease, POLG, stroke-like episodes, MUTATIONS, SPECTRUM, PARKINSONISM, 3112 Neurosciences, 1184 Genetics, developmental biology, physiology, 3121 General medicine, internal medicine and other clinical medicine",

author = "Omar Hikmat and Karin Naess and Martin Engvall and Claus Klingenberg and Magnhild Rasmussen and Tallaksen, {Chantal M. E.} and Eylert Brodtkorb and Elsebet Ostergaard and {de Coo}, {I. F. M.} and Leticia Pias-Peleteiro and Pirjo Isohanni and Johanna Uusimaa and Niklas Darin and Shamima Rahman and Bindoff, {Laurence A.}",

year = "2020",

month = jul,

doi = "10.1002/jimd.12211",

language = "English",

volume = "43",

pages = "726--736",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "4",

}

Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, CME, Brodtkorb, E, Ostergaard, E, de Coo, IFM, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, LA 2020, 'Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases', Journal of Inherited Metabolic Disease, vol. 43, no. 4, pp. 726-736. https://doi.org/10.1002/jimd.12211

TY - JOUR

T1 - Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

AU - Hikmat, Omar

AU - Naess, Karin

AU - Engvall, Martin

AU - Klingenberg, Claus

AU - Rasmussen, Magnhild

AU - Tallaksen, Chantal M. E.

AU - Brodtkorb, Eylert

AU - Ostergaard, Elsebet

AU - de Coo, I. F. M.

AU - Pias-Peleteiro, Leticia

AU - Isohanni, Pirjo

AU - Uusimaa, Johanna

AU - Darin, Niklas

AU - Rahman, Shamima

AU - Bindoff, Laurence A.

PY - 2020/7

Y1 - 2020/7

KW - Alpers syndrome

KW - epilepsy

KW - mitochondrial disease

KW - POLG

KW - stroke-like episodes

KW - MUTATIONS

KW - SPECTRUM

KW - PARKINSONISM

KW - 3112 Neurosciences

KW - 1184 Genetics, developmental biology, physiology

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.1002/jimd.12211

DO - 10.1002/jimd.12211

M3 - Article

SN - 0141-8955

VL - 43

SP - 726

EP - 736

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 4

ER -