- ►nih.gov S Singh, I Sethi, S Francheschetti, C … - British Medical Journal, 2006 - jmg.bmj.com Background: Lafora's progressive myoclonic epilepsy (Lafora's disease) is an
autosomal recessive neurodegenerative disorder characterised by the presence of
polyglucosan intracellular inclusions called Lafora bodies. Mutations in ... Cited by 6 - Related articles - All 5 versions
S Singh, P Satishchandra, SK Shankar, S … - Human Mutation, 2008 - interscience.wiley.com Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive
progressive myoclonus epilepsy. LD is more common among geographic isolates and
in populations with a higher rate of consanguinity. Mutations in two genes, ... Cited by 4 - Related articles - BL Direct - All 2 versions
S Singh, T Suzuki, A Uchiyama, S Kumada, N … - Journal of human genetics, 2005 - Springer Abstract Lafora disease (LD) is a rare autosomal recessive genetic disorder
characterized by epilepsy, myoclonus, and progressive neurological
deterioration. LD is caused by mutations in the EMP2A gene encoding a ... Cited by 11 - Related articles - BL Direct - All 6 versions
C Gomez-Abad, Z Afawi, AD Korczyn, A Misk, … - Epilepsia, 2007 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 3 - Related articles - BL Direct - All 6 versions
J Turnbull, S Kumar, ZP Ren, S Muralitharan, … - Journal of child neurology, 2008 - jcn.sagepub.com Two of the authors are characterizing inherited neurolog- ical disease in the
remote tribal villages of the Sultanate of Oman. 12,13 Fourteen patients with
clinical features of Lafora disease were identified in 5 tribes. All were ... Cited by 3 - Related articles - BL Direct - All 3 versions
P Striano, F Zara, J Turnbull, JM Girard, CA … - Nature Clinical Practice Neurology, 2008 - nature.com Federico Zara gained his PhD in Medical Genetics in 1996 at the University of
Genoa, Italy. From 1997 to 2001 he worked at the Department of Neurology, Baylor
College of Medicine, Houston, TX, USA, and at the Laboratory of Genetics, ... Cited by 4 - Related articles - BL Direct - All 7 versions
S Mittal, D Dubey, K Yamakawa, S Ganesh - Human molecular genetics, 2007 - Oxford Univ Press Lafora disease (LD), an autosomal recessive neurodegenerative disorder, is
characterized by the presence of cytoplasmic polyglucosan inclusions known as
Lafora bodies in several tissues including the brain. Laforin, a protein ... Cited by 18 - Related articles - BL Direct - All 8 versions
S Sociosanitarios, E de Atención Domiciliaria, … - estockley.com La enfermedad de Lafora es una forma de epilepsia pro- gresiva que se transmite
de manera autosómica recesiva y que aparece en la infancia o al principio de la
adolescencia1,2. Una de sus características anatomopatológicas es la ... Related articles - View as HTML - All 2 versions
- ►nih.gov M Traoré, G Landouré, W Motley, M Sangaré, … - neurogenetics, 2009 - Springer Abstract We studied a Malian family with parental consan- guinity and two of
eight siblings affected with late-childhood- onset progressive myoclonus
epilepsy and cognitive decline, consistent with the diagnosis of Lafora ... Related articles - All 3 versions
