Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

WC Nichols, N Pankratz, DK Marek, MW Pauciulo… - Neurology, 2009 - AAN Enterprises
Objective: To characterize sequence variation within the glucocerebrosidase (GBA) gene in
a select subset of our sample of patients with familial Parkinson disease (PD) and then to
test in our full sample whether these sequence variants increased the risk for PD and were
associated with an earlier onset of disease. Methods: We performed a comprehensive study
of all GBA exons in one patient with PD from each of 96 PD families, selected based on the
family-specific lod scores at the GBA locus. Identified GBA variants were subsequently …

MUTATIONS IN GBA ARE ASSOCIATED WITH FAMILIAL PARKINSON DISEASE SUSCEPTIBILITY AND AGE AT ONSET

E Sidransky, T Samaddar, N Tayebi - Neurology, 2009 - AAN Enterprises
Reply from the Authors: We thank Dr. Menken for his interest in our editorial. 1 We are
committed to publish work that will be of value to our core audience—the members of the
American Academy of Neurology—most of whom are practicing neurologists. For this
reason, we created a mission statement, published in the front matter of each issue, which
reads as follows:“Neurology® will provide clinical neurologists with outstanding peer-
reviewed articles, editorials and reviews to enhance patient care, education, clinical …
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