Related references
Note: Only part of the references are listed.A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression
Silvana Franceschetti et al.
NEUROBIOLOGY OF DISEASE (2007)
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
Tarja Joensuu et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Cystatin B as an intracellular modulator of bone resorption
T Laitala-Leinonen et al.
MATRIX BIOLOGY (2006)
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping
SF Berkovic et al.
BRAIN (2005)
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
K Alakurtti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Univerricht-Lundborg disease: Underdiagnosed in the Netherlands
GJ de Haan et al.
EPILEPSIA (2004)
Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1)
MK Houseweart et al.
JOURNAL OF NEUROBIOLOGY (2003)
Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes
K Brännvall et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease
P Shannon et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2002)
New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B
R Di Giaimo et al.
HUMAN MOLECULAR GENETICS (2002)
Unverricht-Lundborg disease with cystatin B gene abnormalities
K Kagitani-Shimono et al.
PEDIATRIC NEUROLOGY (2002)
Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy
R Rinne et al.
ANNALS OF MEDICINE (2002)
Progressive Myoclonus Epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.
SS Pataskar et al.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS (2001)
Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases
T Saha et al.
FEBS LETTERS (2001)
Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1)
M Riccio et al.
EXPERIMENTAL CELL RESEARCH (2001)
Lysosomal cysteine proteases: more than scavengers
B Turk et al.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY (2000)
Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons
E D'amato et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2000)
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1
K Alakurtti et al.
GENE (2000)