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Biochimica Et Biophysica Acta|May 16, 2015
The neuronal ceroid lipofuscinoses program: A translational research experience in ArgentinaRomina Kohan, Favio Pesaola, Norberto Guelbert, et al.Journal of Proteome Research|August 10, 2017
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential BiomarkersDavid E Sleat, Abla Tannous, Istvan Sohar, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|February 2, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experienceJeffrey A Brown, Jionghong Min, John F Staropoli, et al.Journal of Lipid Research|April 5, 2017
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrheaNina L Gluchowski, Chandramohan Chitraju, Joseph A Picoraro, et al.Plos One|January 12, 2012
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesMilen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, et al.Angiogenesis|November 13, 2012
Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stressShuping Li, Jinghao Sheng, Jamie K Hu, et al.Gene|December 26, 2012
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South AmericaRomina Kohan, María Noelia Carabelos, Winnie Xin, et al.American Journal of Human Genetics|July 4, 2012
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome systemJohn F Staropoli, Amel Karaa, Elaine T Lim, et al.Molecular Genetics and Metabolism|August 25, 2016
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosisMichael Fietz, Moeenaldeen AlSayed, Derek Burke, et al.Plos One|May 22, 2015
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryLouis Viollet, Gustavo Glusman, Kelley J Murphy, et al.Pageof 2