Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Daniel L. Polla; Elisa Rahikkala; Michaela K. Bode; Tuomo Määttä; Teppo Varilo; Thyrza Loman; Anju K. Philips; Mitja Kurki; Aarno Palotie; Jarmo  Körkkö; Kristiina Avela; Valerie Jacquemin; Isabelle Pirson; Marc Abramowicz; Arjan P. M. de Brouwer; Outi Kuismin; Hans van Bokhoven; Irma Järvelä

doi:10.1038/s41431-019-0383-8

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Daniel L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Kristiina Avela, Valerie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P. M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä

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

Original language	English
Journal	European Journal of Human Genetics
Volume	27
Issue number	8
Pages (from-to)	1235-1243
Number of pages	9
ISSN	1018-4813
DOIs	https://doi.org/10.1038/s41431-019-0383-8
Publication status	Published - Aug 2019
MoE publication type	A1 Journal article-refereed

Bibliographical note

Correction: Volume: 28 Issue: 4 Pages: 532-532
DOI: 10.1038/s41431-019-0491-5

Fields of Science

ADAPTER PROTEIN
SALLA DISEASE
MALFORMATIONS
APOPTOSIS
GENETICS
MUTATIONS
GENES
RAIDD
PIDD
3111 Biomedicine
1182 Biochemistry, cell and molecular biology
1184 Genetics, developmental biology, physiology

Access to Document

10.1038/s41431-019-0383-8

Cite this

Polla, D. L., Rahikkala, E., Bode, M. K., Määttä, T., Varilo, T., Loman, T., Philips, A. K., Kurki, M., Palotie, A., Körkkö, J., Avela, K., Jacquemin, V., Pirson, I., Abramowicz, M., de Brouwer, A. P. M., Kuismin, O., van Bokhoven, H., & Järvelä, I. (2019). Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. European Journal of Human Genetics, 27(8), 1235-1243. https://doi.org/10.1038/s41431-019-0383-8

@article{2a2461a0325743238e200fe0c76cb255,

title = "Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population",

keywords = "ADAPTER PROTEIN, SALLA DISEASE, MALFORMATIONS, APOPTOSIS, GENETICS, MUTATIONS, GENES, RAIDD, PIDD, 3111 Biomedicine, 1182 Biochemistry, cell and molecular biology, 1184 Genetics, developmental biology, physiology",

author = "Polla, {Daniel L.} and Elisa Rahikkala and Bode, {Michaela K.} and Tuomo M{\"a}{\"a}tt{\"a} and Teppo Varilo and Thyrza Loman and Philips, {Anju K.} and Mitja Kurki and Aarno Palotie and Jarmo K{\"o}rkk{\"o} and Kristiina Avela and Valerie Jacquemin and Isabelle Pirson and Marc Abramowicz and {de Brouwer}, {Arjan P. M.} and Outi Kuismin and {van Bokhoven}, Hans and Irma J{\"a}rvel{\"a}",

note = "Correction: Volume: 28 Issue: 4 Pages: 532-532 DOI: 10.1038/s41431-019-0491-5",

year = "2019",

month = aug,

doi = "10.1038/s41431-019-0383-8",

language = "English",

volume = "27",

pages = "1235--1243",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

number = "8",

}

Polla, DL, Rahikkala, E, Bode, MK, Määttä, T, Varilo, T, Loman, T, Philips, AK, Kurki, M, Palotie, A, Körkkö, J, Avela, K, Jacquemin, V, Pirson, I, Abramowicz, M, de Brouwer, APM, Kuismin, O, van Bokhoven, H & Järvelä, I 2019, 'Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population', European Journal of Human Genetics, vol. 27, no. 8, pp. 1235-1243. https://doi.org/10.1038/s41431-019-0383-8

TY - JOUR

T1 - Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

AU - Polla, Daniel L.

AU - Rahikkala, Elisa

AU - Bode, Michaela K.

AU - Määttä, Tuomo

AU - Varilo, Teppo

AU - Loman, Thyrza

AU - Philips, Anju K.

AU - Kurki, Mitja

AU - Palotie, Aarno

AU - Körkkö, Jarmo

AU - Avela, Kristiina

AU - Jacquemin, Valerie

AU - Pirson, Isabelle

AU - Abramowicz, Marc

AU - de Brouwer, Arjan P. M.

AU - Kuismin, Outi

AU - van Bokhoven, Hans

AU - Järvelä, Irma

N1 - Correction: Volume: 28 Issue: 4 Pages: 532-532 DOI: 10.1038/s41431-019-0491-5

PY - 2019/8

Y1 - 2019/8

KW - ADAPTER PROTEIN

KW - SALLA DISEASE

KW - MALFORMATIONS

KW - APOPTOSIS

KW - GENETICS

KW - MUTATIONS

KW - GENES

KW - RAIDD

KW - PIDD

KW - 3111 Biomedicine

KW - 1182 Biochemistry, cell and molecular biology

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41431-019-0383-8

DO - 10.1038/s41431-019-0383-8

M3 - Article

SN - 1018-4813

VL - 27

SP - 1235

EP - 1243

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 8

ER -