K. Alakurtti

发表

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

D. Lindhout, E. Weber, A. Lehesjoki, 2005, European Journal of Human Genetics.

Genome-wide association study of migraine implicates a common susceptibility variant on 8 q 22 . 1

A. Hofman, A. Uitterlinden, M. Daly, 2010 .

Noggin null allele mice exhibit a microform of holoprosencephaly.

F. Luyten, P. Tylzanowski, D. Rice, 2011, Human molecular genetics.

Prevention of Premature Fusion of Calvarial Suture in GLI-Kruppel Family Member 3 (Gli3)-deficient Mice by Removing One Allele of Runt-related Transcription Factor 2 (Runx2)*

D. Rice, K. Alakurtti, M. Takatalo, 2012, The Journal of Biological Chemistry.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

S. Myllykangas, J. Koskenvuo, K. Alakurtti, 2021, PloS one.

Molecular biology of progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1)

K. Alakurtti, Kirsi Alakurtti, 2006 .

Runx 2 Transcription Factor 2 ( Removing One Allele of Runt-related )-deficient Mice by Gli 3 Member 3 ( Calvarial Suture in GLI-Kruppel Family Prevention of Premature Fusion of Developmental

D. Rice, K. Alakurtti, M. Takatalo, 2012 .

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

Thomas Meitinger, Michael Inouye, Martin Dichgans, 2010, Nature Genetics.

A high-density association screen of 155 ion transport genes for involvement with common migraine.

M. Daly, L. Peltonen, D. Cox, 2008, Human molecular genetics.

Functional interaction of AIRE with PIAS1 in transcriptional regulation.

J. Seeler, J. Saharinen, J. Palvimo, 2008, Molecular immunology.

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

T. Joensuu, K. Virtaneva, J. Palvimo, 2000, Gene.

RAB23 regulates musculoskeletal development and patterning

Md. Rakibul Hasan, D. Rice, Md Rakibul Hasan, 2023, Frontiers in Cell and Developmental Biology.

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

T. Joensuu, A. Lehesjoki, L. Huopaniemi, 2007, European Journal of Human Genetics.