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Stem Cell Reports|July 7, 2015
Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU ProteinMarc Ehrlich, Anna-Lena Hallmann, Peter Reinhardt, et al.
Brain Pathology (Zurich, Switzerland)|September 4, 2009
PET of brain prion protein amyloid in Gerstmann-Sträussler-Scheinker diseaseVladimir Kepe, Bernardino Ghetti, Martin R Farlow, et al.
Journal of Alzheimer'S Disease : JAD|November 1, 2015
Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba NigeriansSungeun Kim, Kwangsik Nho, Vijay K Ramanan, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.
Parkinsonism & Related Disorders|May 10, 2005
The effect of tau genotype on clinical features in FTDP-17Yasuhiko Baba, Yoshio Tsuboi, Matthew C Baker, et al.
The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndromeAlyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
JAMA|April 11, 2013
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African AmericansChristiane Reitz, Gyungah Jun, Adam Naj, et al.
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