Associated Papers
Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.
Abdel-Hamid MS et al.
Clinical Genetics, 2025
Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.
Del Gamba C et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
Singh S et al.
Cells, 2024
Short- and long-interval intracortical inhibition in EPM1 is related to genotype.
Silvennoinen K et al.
Epilepsia, 2023
Human stefin B: from its structure, folding, and aggregation to its function in health and disease.
Žerovnik E
Frontiers in Molecular Neuroscience, 2022
Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy.
Silvennoinen K et al.
Epilepsia, 2020
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
Di Matteo F et al.
Embo Molecular Medicine, 2020
New discoveries in progressive myoclonus epilepsies: a clinical outlook.
Bhat S et al.
Expert Review of Neurotherapeutics, 2018
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
O'Brien A et al.
European Journal of Human Genetics : Ejhg, 2017
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.
Assenza G et al.
Epilepsia, 2017
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.
Dimassi S et al.
Applied & Translational Genomics, 2015
Gain in toxic function of stefin B EPM1 mutants aggregates: correlation between cell death, aggregate number/size and oxidative stress.
Polajnar M et al.
Biochimica Et Biophysica Acta, 2014
Influence of partial unfolding and aggregation of human stefin B (cystatin B) EPM1 mutants G50E and Q71P on selective cleavages by cathepsins B and S.
Polajnar M et al.
Biological Chemistry, 2013
Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.
Suoranta S et al.
Bone, 2012
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L et al.
Epilepsia, 2012
Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.
Polajnar M et al.
Frontiers in Molecular Neuroscience, 2012
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1).
Danner N et al.
Seizure, 2011
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.
Koskenkorva P et al.
Neuro-degenerative Diseases, 2011
Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB.
Brault V et al.
Plos One, 2011
Amyloid fibril formation by human stefins: Structure, mechanism & putative functions.
Zerovnik E et al.
Biochimie, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Intracellular aggregation of human stefin B: confocal and electron microscopy study.
Ceru S et al.
Biology of the Cell, 2010
Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T et al.
Epilepsia, 2008
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Joensuu T et al.
European Journal of Human Genetics : Ejhg, 2007
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
Alakurtti K et al.
European Journal of Human Genetics : Ejhg, 2005
Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
de Haan GJ et al.
Epilepsia, 2004
Molecular background of progressive myoclonus epilepsy.
Lehesjoki AE
The Embo Journal, 2003