ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anna-Kaisa Anttonen; Anni Laari; Maria Kousi; Yawei J. Yang; Tiina Jääskeläinen; Mirja Somer; Eija Siintola; Eveliina Jakkula; Mikko Muona; Saara Tegelberg; Tuula Lönnqvist; Helena Pihko; Leena Valanne; Anders Paetau; Melody P. Lun; Johanna Hästbacka; Outi Kopra; Tarja Joensuu; Nicholas Katsanis; Maria K. Lehtinen; Jorma J. Palvimo; Anna-Elina Lehesjoki

doi:10.1093/brain/awx040

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J. Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P. Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K. LehtinenJorma J. Palvimo, Anna-Elina Lehesjoki

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Brain : a journal of neurology
Volym	140
Sidor (från-till)	1267-1279
Antal sidor	13
ISSN	0006-8950
DOI	https://doi.org/10.1093/brain/awx040
Status	Publicerad - maj 2017
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3124 Neurologi och psykiatri
3112 Neurovetenskaper

Åtkomst av dokument

10.1093/brain/awx040

awx040Slutlig publicerad version, 1,82 MB

Citera det här

Anttonen, A.-K., Laari, A., Kousi, M., Yang, Y. J., Jääskeläinen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lönnqvist, T., Pihko, H., Valanne, L., Paetau, A., Lun, M. P., Hästbacka, J., Kopra, O., Joensuu, T., Katsanis, N., ... Lehesjoki, A.-E. (2017). ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain : a journal of neurology, 140, 1267-1279. https://doi.org/10.1093/brain/awx040

@article{325938fe2f6643afa61a07834a045edd,

title = "ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss",

keywords = "PEHO syndrome, progressive encephalopathy, ZNHIT3, cerebellum, THYROID-HORMONE RECEPTOR, SYNDROME PROGRESSIVE ENCEPHALOPATHY, OPTIC ATROPHY, SEVERE IMPAIRMENT, OXIDATIVE-STRESS, EDEMA, HYPSARRHYTHMIA, DIFFERENTIATION, HYPOARRHYTHMIA, COACTIVATOR, 3124 Neurology and psychiatry, 3112 Neurosciences",

author = "Anna-Kaisa Anttonen and Anni Laari and Maria Kousi and Yang, {Yawei J.} and Tiina J{\"a}{\"a}skel{\"a}inen and Mirja Somer and Eija Siintola and Eveliina Jakkula and Mikko Muona and Saara Tegelberg and Tuula L{\"o}nnqvist and Helena Pihko and Leena Valanne and Anders Paetau and Lun, {Melody P.} and Johanna H{\"a}stbacka and Outi Kopra and Tarja Joensuu and Nicholas Katsanis and Lehtinen, {Maria K.} and Palvimo, {Jorma J.} and Anna-Elina Lehesjoki",

year = "2017",

month = may,

doi = "10.1093/brain/awx040",

language = "English",

volume = "140",

pages = "1267--1279",

journal = "Brain : a journal of neurology",

issn = "0006-8950",

publisher = "Oxford University Press",

}

Anttonen, A-K, Laari, A, Kousi, M, Yang, YJ, Jääskeläinen, T, Somer, M, Siintola, E, Jakkula, E, Muona, M, Tegelberg, S, Lönnqvist, T, Pihko, H , Valanne, L , Paetau, A, Lun, MP, Hästbacka, J, Kopra, O, Joensuu, T, Katsanis, N, Lehtinen, MK, Palvimo, JJ & Lehesjoki, A-E 2017, 'ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss', Brain : a journal of neurology, vol. 140, s. 1267-1279. https://doi.org/10.1093/brain/awx040

TY - JOUR

T1 - ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

AU - Anttonen, Anna-Kaisa

AU - Laari, Anni

AU - Kousi, Maria

AU - Yang, Yawei J.

AU - Jääskeläinen, Tiina

AU - Somer, Mirja

AU - Siintola, Eija

AU - Jakkula, Eveliina

AU - Muona, Mikko

AU - Tegelberg, Saara

AU - Lönnqvist, Tuula

AU - Pihko, Helena

AU - Valanne, Leena

AU - Paetau, Anders

AU - Lun, Melody P.

AU - Hästbacka, Johanna

AU - Kopra, Outi

AU - Joensuu, Tarja

AU - Katsanis, Nicholas

AU - Lehtinen, Maria K.

AU - Palvimo, Jorma J.

AU - Lehesjoki, Anna-Elina

PY - 2017/5

Y1 - 2017/5

KW - PEHO syndrome

KW - progressive encephalopathy

KW - ZNHIT3

KW - cerebellum

KW - THYROID-HORMONE RECEPTOR

KW - SYNDROME PROGRESSIVE ENCEPHALOPATHY

KW - OPTIC ATROPHY

KW - SEVERE IMPAIRMENT

KW - OXIDATIVE-STRESS

KW - EDEMA

KW - HYPSARRHYTHMIA

KW - DIFFERENTIATION

KW - HYPOARRHYTHMIA

KW - COACTIVATOR

KW - 3124 Neurology and psychiatry

KW - 3112 Neurosciences

U2 - 10.1093/brain/awx040

DO - 10.1093/brain/awx040

M3 - Article

SN - 0006-8950

VL - 140

SP - 1267

EP - 1279

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

ER -