Jensen MP, Hoffman AJ, Stoelb BL, et al. Chronic pain in persons with ... Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet 1998; ...
Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric ...
In this book, the authors use their extensive experience in the field of neurogenetics to provide readers with a practical approach for dealing with these conditions.
If the RED ladder continues beyond what is predicted by the known repeat sizes for genomic DNA samples then the RED reactions are likely not stringent enough and the primer may be binding non-specifically to CAG/CTG like repeat tracts ...
This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist.
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Current Topics in Cellular and Developmental Neurobiology Boris Egger ... to study human neurodegener- ative diseases, specifically iPSC technology models neurodegenerative diseases without the need for overexpressing the mutant gene.
... 54t , 56–57 type 2 ( EA - 2 ) and SCA6 , 241 Epitopes , 28 EPM locus , 345 EPMR locus , 345-346 Essential tremor ( ET ) , 364 ET ( essential tremor ) ... See Amyotrophic lateral sclerosis ( ALS ) Familial Alzheimer's disease ( FAD ) .