[HTML][HTML] A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the�…
MD Lalioti, HS Scott, P Genton, R Ouazzani…�- The American Journal of�…, 1998 - cell.com
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is a rare,
autosomal recessive disorder characterized by onset at age 6–16 years, generalized�…
autosomal recessive disorder characterized by onset at age 6–16 years, generalized�…
Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1
MD Lalioti, HS Scott…�- Human molecular�…, 1999 - academic.oup.com
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1; MIM 254800) is an
autosomal recessive disorder characterized by seizures, myoclonus and progression to�…
autosomal recessive disorder characterized by seizures, myoclonus and progression to�…
Progressive myoclonus epilepsy of Unverricht‐Lundborg type
AE Lehesjoki, M Koskiniemi�- Epilepsia, 1999 - Wiley Online Library
Progressive myoclonus epilepsy of Unverricht‐Lundborg type (EPM1) is characterized by
onset at age 6–15 years, stimulus‐sensitive myoclonus, tonic‐clonic seizures, and typical�…
onset at age 6–15 years, stimulus‐sensitive myoclonus, tonic‐clonic seizures, and typical�…
Novel cystatin B mutation and diagnostic PCR assay in an unverricht‐lundborg progressive myoclonus epilepsy patient
IN Bespalova, S Adkins, M Pranzatelli…�- American journal of�…, 1997 - Wiley Online Library
Progressive myoclonus epilepsy (PME) of the Unverricht-Lundborg type (UL) is an inherited
autosomal recessive disorder (gene locus EPM1) characterized by stimulus-sensitive�…
autosomal recessive disorder (gene locus EPM1) characterized by stimulus-sensitive�…
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
MD Lalioti, M Mirotsou, C Buresi…�- American journal of�…, 1997 - ncbi.nlm.nih.gov
Progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder, characterized
by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The EPM1 locus was�…
by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The EPM1 locus was�…
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene‐associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht�…
A Weinhaeusel, MA Morris, SE Antonarakis…�- Human�…, 2003 - Wiley Online Library
Abstract The Unverricht‐Lundborg type of progressive myoclonus epilepsy (EPM1) is an
autosomal recessive disorder that is caused by the dysfunction of the cystatin B (CSTB)�…
autosomal recessive disorder that is caused by the dysfunction of the cystatin B (CSTB)�…
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1
K Alakurtti, K Virtaneva, T Joensuu, JJ Palvimo…�- Gene, 2000 - Elsevier
Mutations in the gene encoding cystatin B (CSTB) are responsible for the primary defect in
progressive myoclonus epilepsy of Unverricht–Lundborg type (EPM1). A novel and unique�…
progressive myoclonus epilepsy of Unverricht–Lundborg type (EPM1). A novel and unique�…
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion
MD Lalioti, SE Antonarakis, HS Scott�- Cytogenetic and genome�…, 2003 - karger.com
Abstract Progressive myoclonus epilepsy 1 (EPM1) or Unverricht-Lundborg disease is a
human autosomal recessive neurodegenerative disorder caused by mutations in cystatin B�…
human autosomal recessive neurodegenerative disorder caused by mutations in cystatin B�…
Instability of the EPM1 minisatellite
GP Larson, S Ding, RG Lafreni�re…�- Human molecular�…, 1999 - academic.oup.com
Inherited mutations in the cystatin B gene (CSTB) are responsible for progressive myoclonus
epilepsy type 1 (EPM1; MIM 254800). This autosomal recessive disease is characterized by�…
epilepsy type 1 (EPM1; MIM 254800). This autosomal recessive disease is characterized by�…
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
MD Lalioti, HS Scott, C Buresi, C Rossier, A Bottani…�- Nature, 1997 - nature.com
Progressive myoclonus epilepsy of the Unverricht–Lundborg type (EPM1; MIM 254800) is
an autosomal recessive disorder with onset between 6 and 13 years followed by variable�…
an autosomal recessive disorder with onset between 6 and 13 years followed by variable�…
Related searches
- myoclonus epilepsy dodecamer repeat
- age at onset dodecamer repeat
- myoclonus epilepsy age at onset
- pcr amplification repeat expansion
- pcr amplification unverricht lundborg
- myoclonus epilepsy unverricht lundborg
- myoclonus epilepsy identification of mutations
- myoclonus epilepsy protease inhibitor
- pcr amplification dna deamination
- repeat expansion unverricht lundborg
- repeat expansion protease inhibitor
- repeat expansion dna deamination
- identification of mutations unverricht lundborg
- dna deamination unverricht lundborg
- myoclonus epilepsy repeat expansion
- pcr assay unverricht lundborg