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The Journal of Molecular Diagnostics : JMD|June 28, 2011
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher diseaseArash Velayati, Melanie A Knight, Barbara K Stubblefield, et al.
Cerebellum (London, England)|May 18, 2005
Spinocerebellar ataxia type 20Elsdon Storey, Melanie A Knight, Susan M Forrest, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2008
Sir2 mediates apoptosis through JNK-dependent pathways in DrosophilaAnthony J Griswold, Karen T Chang, Alexander P Runko, et al.
Cerebellum (London, England)|May 18, 2005
Spinocerebellar ataxia type 15R J McKinlay Gardner, Melanie A Knight, Kenju Hara, et al.
Brain : a Journal of Neurology|March 5, 2004
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20Melanie A Knight, R J McKinlay Gardner, Melanie Bahlo, et al.
Neurobiology of Disease|June 28, 2003
Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutantMelanie A Knight, Marina L Kennerson, Richard J Anney, et al.
American Journal of Human Genetics|February 29, 2008
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceFanny Mochel, Melanie A Knight, Wing-Hang Tong, et al.
The Journal of Clinical Investigation|February 24, 2007
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophyAmy M Avila, Barrington G Burnett, Addis A Taye, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2008
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal DysplasiaMargaret M Timmons, James Garbern, Pamela G Robey, et al.
Human Molecular Genetics|September 20, 2008
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20Melanie A Knight, Dena Hernandez, Scott J Diede, et al.
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