Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

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 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

Molecular genetics of early-onset Alzheimer's disease revisited

(2016) Rita Cacace et al.   Alzheimers & Dementia

Coding mutations inSORL1and Alzheimer disease

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

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

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans

(2014) Mark W. Logue et al.   Alzheimers & Dementia

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

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

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

(2014) Manoj P. Menezes et al.   NEUROMUSCULAR DISORDERS

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

Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

(2013) Rita João Guerreiro et al.   JAMA Neurology

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

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

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

(2011) Rita João Guerreiro et al.   NEUROBIOLOGY OF AGING

The Genetics of Alzheimer Disease: Back to the Future

(2010) Lars Bertram et al.   NEURON

Genetics of Alzheimer's disease: recent advances

(2009) Dimitrios Avramopoulos   Genome Medicine