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Frederick Andermann

Showing results (101-110 of 115) with videos related to

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American Journal of Human Genetics|May 10, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Todor Arsov, Katherine R Smith, John Damiano, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.
Human Molecular Genetics|January 9, 2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisKatherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, et al.
Neurology. Genetics|March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related DisordersHendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
American Journal of Human Genetics|March 1, 2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisSamuel F Berkovic, Leanne M Dibbens, Alicia Oshlack, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.
Pageof 12

Showing results (101-110 of 115) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|May 10, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Todor Arsov, Katherine R Smith, John Damiano, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 16, 2010
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexiaSeo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, et al.
Human Molecular Genetics|January 9, 2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisKatherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, et al.
Neurology. Genetics|March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related DisordersHendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
American Journal of Human Genetics|March 1, 2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisSamuel F Berkovic, Leanne M Dibbens, Alicia Oshlack, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.
Pageof 12