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Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases|September 26, 2003
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputesPeter M Andersen, Katherine B Sims, Winnie W Xin, et al.
Neurology|May 11, 2016
Determinants of white matter hyperintensity burden in patients with Fabry diseaseNatalia S Rost, Lisa Cloonan, Allison S Kanakis, et al.
Molecular Genetics and Metabolism|October 4, 2012
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfaAns T van der Ploeg, Richard Barohn, Lisa Carlson, 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.
American Journal of Human Genetics|August 9, 2011
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosisLenka Nosková, Viktor Stránecký, Hana Hartmannová, et al.
American Journal of Human Genetics|May 22, 2012
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageKatherine R Smith, John Damiano, Silvana Franceschetti, et al.
Neurology|April 19, 2013
Targeted exome sequencing of suspected mitochondrial disordersDaniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Neurology|July 15, 2016
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)Samuel F Berkovic, John F Staropoli, Stirling Carpenter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 21, 2014
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencingMark B Consugar, Daniel Navarro-Gomez, Emily M Place, 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.
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