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
AV Delgado-Escueta - Current Neurology and Neuroscience Reports, 2007 - Springer Abstract Lafora progressive myoclonus epilepsy is an autosomal recessive, fatal,
generalized polyglucosan stor- age disorder that occurs in childhood or
adolescence with stimulus sensitive epilepsy (resting and action ... Cited by 12 - Related articles - BL Direct - All 2 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
- ►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
S Singh, S Ganesh - Human Mutation, 2009 - interscience.wiley.com Lafora disease (LD) is an autosomal recessive and fatal form of progressive
myoclonus epilepsy. LD patients manifest myoclonus and tonic-clonic seizures,
visual hallucinations, and progressive neurologic deterioration beginning ... Related articles - All 2 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