Abstract:
:A search for the defective gene causing torsion dystonia has been carried out in a family manifesting an autosomal dominant mode of inheritance of this movement disorder. Complete neurologic examination and establishment of lymphoblast lines have been carried out for over 50 members. Linkage analysis, using cloned DNA sequences and restriction fragment length polymorphisms, was evaluated by the LOD score method with requisite assumptions for mode of inheritance, age-of-onset and incomplete gene penetrance. Genes for pro-opiomelanocortin and glutamic acid decarboxylase, which have been implicated in the etiology of the disease in rat models, were excluded as being responsible for the disease state in this family. Other regions of the genome were also excluded using DNA probes for other genes and random "unique" sequences.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
Breakefield XO,Bressman SB,Kramer PL,Ozelius L,Moskowitz C,Tanzi R,Brin MF,Hobbs W,Kaufman D,Tobin Adoi
10.3109/01677068609106846subject
Has Abstract,Author List Incompletepub_date
1986-05-01 00:00:00pages
159-75issue
3eissn
0167-7063issn
1563-5260journal_volume
3pub_type
杂志文章abstract::A slide taped to a window at the Woods Hole Marine Biology Laboratory was my first introduction to the touch receptor neurons of the nematode Caenorhabditis elegans. Studying these cells as a postdoc with Sydney Brenner gave me a chance to work with John Sulston on a fascinating set of neurons. I would never have gues...
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abstract::The shape of a neuron, its morphological signature, dictates the neuron's function by establishing its synaptic partnerships. Here, we review various anatomical methods used to reveal neuron shape and the contributions these have made to our current understanding of neural function in the Drosophila brain, especially ...
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