In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Marjo K. Hytönen; Riika Sarviaho; Christopher B. Jackson; Pernilla Syrjä; Tarja Jokinen; Kaspar Matiasek; Marco Rosati; Cristina Dallabona; Enrico Baruffini; Ileana Quintero; Meharji Arumilli; Geoffray Monteuuis; Jonas Donner; Marjukka Anttila; Anu Suomalainen; Laurence A. Bindoff; Hannes Lohi

doi:10.1007/s00439-021-02279-y

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

Marjo K. Hytönen, Riika Sarviaho, Christopher B. Jackson, Pernilla Syrjä, Tarja Jokinen, Kaspar Matiasek, Marco Rosati, Cristina Dallabona, Enrico Baruffini, Ileana Quintero, Meharji Arumilli, Geoffray Monteuuis, Jonas Donner, Marjukka Anttila, Anu Suomalainen, Laurence A. Bindoff, Hannes Lohi

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

Original language	English
Journal	Human Genetics
Volume	140
Pages (from-to)	1593-1609
Number of pages	17
ISSN	0340-6717
DOIs	https://doi.org/10.1007/s00439-021-02279-y
Publication status	Published - 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

1184 Genetics, developmental biology, physiology

Access to Document

10.1007/s00439-021-02279-yLicence: CC BY

CaninePITRM1Final published version, 3.2 MBLicence: CC BY

Cite this

Hytönen, M. K., Sarviaho, R., Jackson, C. B., Syrjä, P., Jokinen, T., Matiasek, K., Rosati, M., Dallabona, C., Baruffini, E., Quintero, I., Arumilli, M., Monteuuis, G., Donner, J., Anttila, M., Suomalainen, A., Bindoff, L. A., & Lohi, H. (2021). In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Human Genetics, 140, 1593-1609. https://doi.org/10.1007/s00439-021-02279-y

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title = "In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration",

keywords = "1184 Genetics, developmental biology, physiology",

author = "Hyt{\"o}nen, {Marjo K.} and Riika Sarviaho and Jackson, {Christopher B.} and Pernilla Syrj{\"a} and Tarja Jokinen and Kaspar Matiasek and Marco Rosati and Cristina Dallabona and Enrico Baruffini and Ileana Quintero and Meharji Arumilli and Geoffray Monteuuis and Jonas Donner and Marjukka Anttila and Anu Suomalainen and Bindoff, {Laurence A.} and Hannes Lohi",

year = "2021",

doi = "10.1007/s00439-021-02279-y",

language = "English",

volume = "140",

pages = "1593--1609",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer",

}

Hytönen, MK, Sarviaho, R, Jackson, CB , Syrjä, P , Jokinen, T, Matiasek, K, Rosati, M, Dallabona, C, Baruffini, E, Quintero, I, Arumilli, M , Monteuuis, G, Donner, J, Anttila, M, Suomalainen, A, Bindoff, LA & Lohi, H 2021, 'In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration', Human Genetics, vol. 140, pp. 1593-1609. https://doi.org/10.1007/s00439-021-02279-y

TY - JOUR

T1 - In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

AU - Hytönen, Marjo K.

AU - Sarviaho, Riika

AU - Jackson, Christopher B.

AU - Syrjä, Pernilla

AU - Jokinen, Tarja

AU - Matiasek, Kaspar

AU - Rosati, Marco

AU - Dallabona, Cristina

AU - Baruffini, Enrico

AU - Quintero, Ileana

AU - Arumilli, Meharji

AU - Monteuuis, Geoffray

AU - Donner, Jonas

AU - Anttila, Marjukka

AU - Suomalainen, Anu

AU - Bindoff, Laurence A.

AU - Lohi, Hannes

PY - 2021

Y1 - 2021

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1007/s00439-021-02279-y

DO - 10.1007/s00439-021-02279-y

M3 - Article

SN - 0340-6717

VL - 140

SP - 1593

EP - 1609

JO - Human Genetics

JF - Human Genetics

ER -