Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

Approved

Publication information

OKM publication type
A1
Category
Artikkelit ja abstraktit
Sub category
Tieteelliset aikakauslehtiartikkelit
Type
Alkuperäisartikkeli
Refereed
Kyllä

Authors of the publication

Number of authors
9
Authors
Koskenkorva P, Hyppönen J, Aikiä M, Mervaala E, Kiviranta T, Eriksson K, Lehesjoki AE, Vanninen R, Kälviäinen R.

Publication channel information

Title of journal/series
Neurodegenerative diseases
ISSN (print)
1660-2854
ISSN (electronic)
1660-2862
ISSN (linking)
1660-2854
Publication forum ID
63881
Country of publication
Switzerland
Internationality
Yes

Detailed publication information

Publication year
2011
Journal/series volume number
8
Journal/series issue number
6
Page numbers
515-522
Language of publication
English

Co-publication information

International co-publication
No

Classification and additional information

MinEdu field of science classification
3126 Surgery, anesthesiology, intensive care, radiology, 3112 Neurosciences, 3124 Neurology and psychiatry