Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

(2017) Eva Louwersheimer et al.   JOURNAL OF ALZHEIMERS DISEASE

A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function

(2017) Fan Liu et al.   JOURNAL OF ALZHEIMERS DISEASE

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

(2016) Jan Verheijen et al.   ACTA NEUROPATHOLOGICA

Risk factor SORL1: from genetic association to functional validation in Alzheimer’s disease

(2016) Olav M. Andersen et al.   ACTA NEUROPATHOLOGICA

2016 Alzheimer's disease facts and figures

(2016)   Alzheimers & Dementia

Coding mutations inSORL1and Alzheimer disease

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

The Rotterdam Study: 2016 objectives and design update

(2015) Albert Hofman et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

The genetic landscape of Alzheimer disease: clinical implications and perspectives

(2015) Caroline Van Cauwenberghe et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

(2015) G Nicolas et al.   MOLECULAR PSYCHIATRY

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SorLA Complement-type Repeat Domains Protect the Amyloid Precursor Protein against Processing

(2014) Arnela Mehmedbasic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Lysosomal Sorting of Amyloid-  by the SORLA Receptor Is Impaired by a Familial Alzheimer's Disease Mutation

(2014) S. Caglayan et al.   Science Translational Medicine

Sorting receptor SORLA - a trafficking path to avoid Alzheimer disease

(2013) T. E. Willnow et al.   JOURNAL OF CELL SCIENCE

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Identification of Alzheimer Disease Risk Genotype That Predicts Efficiency of SORL1 Expression in the Brain

(2012) Safak Caglayan   ARCHIVES OF NEUROLOGY

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease

(2011) Christiane Reitz   ARCHIVES OF NEUROLOGY

The Vps10p-domain receptor family

(2009) Guido Hermey   CELLULAR AND MOLECULAR LIFE SCIENCES

SORL1 is genetically associated with Alzheimer disease in a Japanese population

(2009) Ryo Kimura et al.   NEUROSCIENCE LETTERS

A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family

(2008) Feng Gu et al.   HUMAN MUTATION

SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese

(2007) E.K. Tan et al.   NEUROBIOLOGY OF AGING