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Human Molecular Genetics|November 10, 2005
Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington diseaseJeremy M Van Raamsdonk, Zoe Murphy, Elizabeth J Slow, et al.
Human Molecular Genetics|April 1, 1993
Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplicationV V Ionasescu, R Ionasescu, C Searby, et al.
Human Molecular Genetics|December 13, 2005
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partnersChristopher M Sanderson, James W Connell, Thomas L Edwards, et al.
Human Molecular Genetics|November 23, 2005
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2Jan Reiners, Erwin van Wijk, Tina Märker, et al.
Human Molecular Genetics|November 23, 2005
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsyIsraela Lerer, Michal Sagi, Vardiella Meiner, et al.
Human Molecular Genetics|December 3, 2005
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activityChristian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, et al.
Human Molecular Genetics|December 7, 2005
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disordersClark Lin, Brunella Franco, Marsha Rich Rosner
Human Molecular Genetics|November 29, 2005
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophyCaroline Sevin, Abdellatif Benraiss, Debby Van Dam, et al.
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