Showing results (1-10 of 14) with videos related to
Sort By:
Pageof 2
Frontiers in Neurology|April 1, 2022
Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an OverviewAlessandro Simonati, Ruth E WilliamsNeurology|July 11, 2012
New nomenclature and classification scheme for the neuronal ceroid lipofuscinosesRuth E Williams, Sara E MoleNeurogenetics|June 21, 2005
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinosesSara E Mole, Ruth E Williams, Hans H GoebelSeizure|March 11, 2018
Ketogenic diet therapy in infants less than two years of age for medically refractory epilepsyNaila Ismayilova, Mary-Anne Leung, Ravi Kumar, et al.Biochimica Et Biophysica Acta|August 26, 2006
Diagnosis of the neuronal ceroid lipofuscinoses: an updateRuth E Williams, Laura Aberg, Taina Autti, et al.Human Mutation|June 20, 2003
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosisJulie D Sharp, Ruth B Wheeler, Keith A Parker, et al.American Journal of Human Genetics|December 1, 2001
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane proteinRuth B Wheeler, Julie D Sharp, Roger A Schultz, et al.Molecular Genetics & Genomic Medicine|January 25, 2017
CLN8 disease caused by large genomic deletionsClare Beesley, Rita J Guerreiro, Jose T Bras, et al.Developmental Medicine and Child Neurology|May 26, 2017
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5Alessandro Simonati, Ruth E Williams, Nardo Nardocci, et al.NPJ Genomic Medicine|May 16, 2018
Incorporating epilepsy genetics into clinical practice: a 360°evaluationStephanie Oates, Shan Tang, Richard Rosch, et al.Pageof 2