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 journalArticleScientificpeer-review

Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume27
Issue number8
Pages (from-to)1235-1243
Number of pages9
ISSN1018-4813
DOIs
Publication statusPublished - Aug 2019
MoE publication typeA1 Journal article-refereed

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

Cite this

Polla, Daniel L. ; Rahikkala, Elisa ; Bode, Michaela K. ; Määttä, Tuomo ; Varilo, Teppo ; Loman, Thyrza ; Philips, Anju K. ; Kurki, Mitja ; Palotie, Aarno ; Körkkö, Jarmo ; Avela, Kristiina ; Jacquemin, Valerie ; Pirson, Isabelle ; Abramowicz, Marc ; de Brouwer, Arjan P. M. ; Kuismin, Outi ; van Bokhoven, Hans ; Järvelä, Irma. / Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. In: European Journal of Human Genetics. 2019 ; Vol. 27, No. 8. pp. 1235-1243.
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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}",
year = "2019",
month = "8",
doi = "10.1038/541431-019-0383-8",
language = "English",
volume = "27",
pages = "1235--1243",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "8",

}

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. / Polla, Daniel L.; Rahikkala, Elisa; Bode, Michaela K.; Määttä, Tuomo; Varilo, Teppo; Loman, Thyrza; Philips, Anju K.; Kurki, Mitja; Palotie, Aarno; Körkkö, Jarmo ; Avela, Kristiina; Jacquemin, Valerie; Pirson, Isabelle; Abramowicz, Marc; de Brouwer, Arjan P. M.; Kuismin, Outi; van Bokhoven, Hans; Järvelä, Irma.

In: European Journal of Human Genetics, Vol. 27, No. 8, 08.2019, p. 1235-1243.

Research output: Contribution to journalArticleScientificpeer-review

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

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 - 10.1038/541431-019-0383-8

DO - 10.1038/541431-019-0383-8

M3 - Article

VL - 27

SP - 1235

EP - 1243

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 8

ER -