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Annals of Neurology|May 11, 2000
X-linked vacuolar myopathies: two separate loci and refined genetic mappingM Auranen, M Villanova, F Muntoni, et al.Clinical Genetics|November 19, 2011
Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizuresA K Vincent, A Noor, A Janson, et al.Neurology|August 12, 2004
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locusE M Chan, S Omer, M Ahmed, et al.Neurology|August 10, 2000
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsyB A Minassian, L Ianzano, M Meloche, et al.Journal of Medical Genetics|April 5, 2007
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil, B Ben-Zeev, I Greenbaum, et al.Annals of Neurology|February 28, 2001
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphataseB A Minassian, D M Andrade, L Ianzano, et al.Neurology|December 10, 2003
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfallsD M Andrade, C A Ackerley, T S C Minett, et al.Neuromuscular Disorders : NMD|February 17, 2015
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagyA Ruggieri, N Ramachandran, P Wang, et al.Journal of Medical Genetics|December 5, 2006
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil, B Benteer, Y P Galil, et al.Neurology|August 28, 2002
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagyB A Minassian, R Aiyar, S Alic, et al.Pageof 3