Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

Johanna Palmio; Panu Kiviranta; Päivi H. Hartikainen; Pirjo Isohanni; Mari Auranen; Karoliina Videman; Sini Penttilä; Sara Lehtinen; Jarkko Kirjavainen; Susanna Hintikka; Katriina Paloviita; Janna Saarela; Bjarne Udd

doi:10.1212/NXG.0000000000200155

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

Johanna Palmio, Panu Kiviranta, Päivi H. Hartikainen, Pirjo Isohanni, Mari Auranen, Karoliina Videman, Sini Penttilä, Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita, Janna Saarela, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	e200155
Tidskrift	Neurology Genetics
Volym	10
Nummer	3
Antal sidor	7
ISSN	2376-7839
DOI	https://doi.org/10.1212/NXG.0000000000200155
Status	Publicerad - juni 2024
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3124 Neurologi och psykiatri
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1212/NXG.0000000000200155

palmio-et-al-2024-homozygosity-of-a-founder-variant-c-1508dupc-in-dok7-causes-congenital-myasthenia-with-variableSlutlig publicerad version, 171 KBLicens: CC BY-NC-ND

Citera det här

Palmio, J., Kiviranta, P., Hartikainen, P. H., Isohanni, P., Auranen, M., Videman, K., Penttilä, S., Lehtinen, S., Kirjavainen, J., Hintikka, S., Paloviita, K., Saarela, J., & Udd, B. (2024). Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity. Neurology Genetics, 10(3), Artikel e200155. https://doi.org/10.1212/NXG.0000000000200155

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title = "Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity",

keywords = "3124 Neurology and psychiatry, 1184 Genetics, developmental biology, physiology",

author = "Johanna Palmio and Panu Kiviranta and Hartikainen, {P{\"a}ivi H.} and Pirjo Isohanni and Mari Auranen and Karoliina Videman and Sini Penttil{\"a} and Sara Lehtinen and Jarkko Kirjavainen and Susanna Hintikka and Katriina Paloviita and Janna Saarela and Bjarne Udd",

year = "2024",

month = jun,

doi = "10.1212/NXG.0000000000200155",

language = "English",

volume = "10",

journal = "Neurology Genetics",

issn = "2376-7839",

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Palmio, J, Kiviranta, P, Hartikainen, PH, Isohanni, P , Auranen, M, Videman, K, Penttilä, S, Lehtinen, S, Kirjavainen, J, Hintikka, S, Paloviita, K, Saarela, J & Udd, B 2024, 'Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity', Neurology Genetics, vol. 10, nr. 3, e200155. https://doi.org/10.1212/NXG.0000000000200155

TY - JOUR

T1 - Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

AU - Palmio, Johanna

AU - Kiviranta, Panu

AU - Hartikainen, Päivi H.

AU - Isohanni, Pirjo

AU - Auranen, Mari

AU - Videman, Karoliina

AU - Penttilä, Sini

AU - Lehtinen, Sara

AU - Kirjavainen, Jarkko

AU - Hintikka, Susanna

AU - Paloviita, Katriina

AU - Saarela, Janna

AU - Udd, Bjarne

PY - 2024/6

Y1 - 2024/6

KW - 3124 Neurology and psychiatry

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1212/NXG.0000000000200155

DO - 10.1212/NXG.0000000000200155

M3 - Article

C2 - 38725677

SN - 2376-7839

VL - 10

JO - Neurology Genetics

JF - Neurology Genetics

IS - 3

M1 - e200155

ER -