4.7 Article

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

Related references

Note: Only part of the references are listed.
Review Clinical Neurology

Prevalence of cerebral amyloid angiopathy: A systematic review and meta-analysis

Lieke Jakel et al.

Summary: Reported prevalence estimates of sporadic cerebral amyloid angiopathy (CAA) vary widely, with differences observed in AD patients and the general population. The study found that CAA prevalence based on pathology is higher than that based on presence of strictly lobar cerebral microbleeds. Both methods yield similar estimated prevalences in cognitively normal elderly, patients with intracerebral hemorrhage, and patients with lobar intracerebral hemorrhage. However, large heterogeneity among neuropathology and MRI protocols calls for standardized assessment and reporting of CAA.

ALZHEIMERS & DEMENTIA (2022)

Letter Clinical Neurology

Are the UK genetic testing criteria for dementia too exclusive?

Annita Christodoulidou et al.

JOURNAL OF NEUROLOGY (2021)

Article Neurosciences

Brain Transcriptome Analysis of a Protein-Truncating Mutation in Sortilin-Related Receptor 1 Associated With Early-Onset Familial Alzheimer's Disease Indicates Early Effects on Mitochondrial and Ribosome Function

Karissa Barthelson et al.

Summary: The study using zebrafish as a model organism found that EOfAD-like mutations in SORL1 affect mitochondrial and ribosomal function, independent of changes in the expression of A beta PP-related proteins.

JOURNAL OF ALZHEIMERS DISEASE (2021)

Review Neurosciences

Genetic architecture of common non-Alzheimer's disease dementias

Rita Guerreiro et al.

NEUROBIOLOGY OF DISEASE (2020)

Review Neurosciences

Sorting Out the Role of the Sortilin-Related Receptor 1 in Alzheimer's Disease

Karissa Barthelson et al.

JOURNAL OF ALZHEIMERS DISEASE REPORTS (2020)

Article Multidisciplinary Sciences

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing

Vo Van Giau et al.

SCIENTIFIC REPORTS (2019)

Article Medicine, Research & Experimental

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles

J. Nicholas Cochran et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2019)

Review Clinical Neurology

NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease

Clifford R. Jack et al.

ALZHEIMERS & DEMENTIA (2018)

Review Neurosciences

Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia

Chiara Fenoglio et al.

JOURNAL OF ALZHEIMERS DISEASE (2018)

Article Neurosciences

SORL1 Variants in Familial Alzheimer's Disease

Estrella Gomez-Tortosa et al.

JOURNAL OF ALZHEIMERS DISEASE (2018)

Article Neurosciences

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient

Kilan Le Guennec et al.

JOURNAL OF ALZHEIMERS DISEASE (2018)

Article Clinical Neurology

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

Neha S. Raghavan et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)

Article Biochemistry & Molecular Biology

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

Henne Holstege et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Review Neurosciences

State of Play in Alzheimer's Disease Genetics

Jin-Bao Zhu et al.

JOURNAL OF ALZHEIMERS DISEASE (2017)

Article Biochemistry & Molecular Biology

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

G. Nicolas et al.

MOLECULAR PSYCHIATRY (2016)

Review Clinical Neurology

Molecular genetics of early-onset Alzheimer's disease revisited

Rita Cacace et al.

ALZHEIMERS & DEMENTIA (2016)

Review Genetics & Heredity

From Common to Rare Variants: The Genetic Component of Alzheimer Disease

Gael Nicolas et al.

HUMAN HEREDITY (2016)

Article Biochemistry & Molecular Biology

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

Zhongwu Lai et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Genetics & Heredity

SORL1 mutations in early- and late-onset Alzheimer disease

Michael L. Cuccaro et al.

NEUROLOGY-GENETICS (2016)

Article Clinical Neurology

Coding Mutations in SORL1 and Alzheimer Disease

Badri N. Vardarajan et al.

ANNALS OF NEUROLOGY (2015)

Article Biochemical Research Methods

Fast gapped-read alignment with Bowtie 2

Ben Langmead et al.

NATURE METHODS (2012)

Article Clinical Neurology

Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population

M. Schuur et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)

Article Biochemistry & Molecular Biology

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

E. Genin et al.

MOLECULAR PSYCHIATRY (2011)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Clinical Neurology

The heritability and genetics of frontotemporal lobar degeneration

J. D. Rohrer et al.

NEUROLOGY (2009)

Article Clinical Neurology

Course of cerebral amyloid angiopathy - related inflammation

C. Kinnecom et al.

NEUROLOGY (2007)