AUTHOREA
Log in Sign Up Browse Preprints

loading page

The Natural History of Pelizaeus-Merzbacher Disease
  • +1
  • Angela Trepanier,
  • Sienna Aguilar,
  • John Kamholz,
  • Jeremy Laukka
Angela Trepanier
Wayne State University Center for Molecular Medicine and Genetics
Author Profile
Sienna Aguilar
Wayne State University Center for Molecular Medicine and Genetics
Author Profile
John Kamholz
Wayne State University Center for Molecular Medicine and Genetics
Author Profile
Jeremy Laukka
University of Toledo College of Medicine and Life Sciences

Corresponding Author:[email protected]

Author Profile

Abstract

Abstract Objective The objective of this study was to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus Merzbacher disease (PMD) associated with PLP1 gene duplications. Methods The study examined 16 PMD Patients ranging in age from 7 to 48, who had a documented PLP1 gene duplication. The

Peer review status:ACCEPTED

03 Apr 2023Submitted to Clinical Case Reports
Show details
Hide details
05 Apr 2023Submission Checks Completed
05 Apr 2023Assigned to Editor
07 Apr 2023Reviewer(s) Assigned
07 Apr 2023Review(s) Completed, Editorial Evaluation Pending
09 Apr 2023Editorial Decision: Revise Minor
03 Jul 20231st Revision Received
04 Jul 2023Submission Checks Completed
04 Jul 2023Assigned to Editor
04 Jul 2023Review(s) Completed, Editorial Evaluation Pending
07 Jul 2023Editorial Decision: Accept