4.5 Article

Novel Rare SORL1 Variants in Early-Onset Dementia

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores

Philipp Rentzsch et al.

Summary: The study compared several machine learning methods that score variant effects on splicing using an experimental dataset, integrating the best methods into general variant effect prediction models and evaluating the impact on the classification of known pathogenic variants. The inclusion of splicing DNN effect scores substantially improved predictions across multiple variant categories in the new CADD-Splice model, without compromising overall performance.

GENOME MEDICINE (2021)

Review Neurosciences

The multiplex model of the genetics of Alzheimer's disease

Rebecca Sims et al.

NATURE NEUROSCIENCE (2020)

Review Neurosciences

Genetics of Alzheimer's disease: where we are, and where we are going

Celine Bellenguez et al.

CURRENT OPINION IN NEUROBIOLOGY (2020)

Review Neurosciences

TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis

Sheng-Lan Zhou et al.

JOURNAL OF ALZHEIMERS DISEASE (2019)

Review Cell Biology

Microglia in Alzheimer's disease

David V. Hansen et al.

JOURNAL OF CELL BIOLOGY (2018)

Article Neurosciences

SORL1 Variants in Familial Alzheimer's Disease

Estrella Gomez-Tortosa et al.

JOURNAL OF ALZHEIMERS DISEASE (2018)

Review Oncology

Innate immune activation in Alzheimer's disease

Ming-Ming Wang et al.

ANNALS OF TRANSLATIONAL MEDICINE (2018)

Review Biochemistry & Molecular Biology

Sorting receptor SORLA: cellular mechanisms and implications for disease

Vanessa Schmidt et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2017)

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)

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)

Article Biochemical Research Methods

SIFT missense predictions for genomes

Robert Vaser et al.

NATURE PROTOCOLS (2016)

Review Clinical Neurology

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

Olav M. Andersen et al.

ACTA NEUROPATHOLOGICA (2016)

Review Clinical Neurology

Molecular genetics of early-onset Alzheimer's disease revisited

Rita Cacace et al.

ALZHEIMERS & DEMENTIA (2016)

Review Medicine, Research & Experimental

The amyloid hypothesis of Alzheimer's disease at 25years

Dennis J. Selkoe et al.

EMBO MOLECULAR MEDICINE (2016)

Article Biochemistry & Molecular Biology

SORL1 variants across Alzheimer's disease European American cohorts

Maria Victoria Fernandez et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Genetics & Heredity

SORL1 mutations in early- and late-onset Alzheimer disease

Michael L. Cuccaro et al.

NEUROLOGY-GENETICS (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Clinical Neurology

Coding Mutations in SORL1 and Alzheimer Disease

Badri N. Vardarajan et al.

ANNALS OF NEUROLOGY (2015)

Review Neurosciences

Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis

Celeste M. Karch et al.

BIOLOGICAL PSYCHIATRY (2015)

Article Neurosciences

SORL1 gene polymorphism association with late-onset Alzheimer's disease

Xialu Feng et al.

NEUROSCIENCE LETTERS (2015)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Article Neurosciences

TREM2 R47H Variant as a Risk Factor for Early-Onset Alzheimer's Disease

Cyril Pottier et al.

JOURNAL OF ALZHEIMERS DISEASE (2013)

Article Genetics & Heredity

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

Jean-Charles Lambert et al.

NATURE GENETICS (2013)

Article Medicine, General & Internal

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

Thorlakur Jonsson et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

TREM2 Variants in Alzheimer's Disease

Rita Guerreiro et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Biochemistry & Molecular Biology

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

C. Pottier et al.

MOLECULAR PSYCHIATRY (2012)

Article Clinical Neurology

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

Christiane Reitz et al.

ARCHIVES OF NEUROLOGY (2011)

Article Mathematical & Computational Biology

Confidence intervals that match Fisher's exact or Blaker's exact tests

Michael P. Fay

BIOSTATISTICS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Clinical Neurology

Implication of Sex and SORL1 Variants in Italian Patients With Alzheimer Disease

Elena Cellini et al.

ARCHIVES OF NEUROLOGY (2009)

Article Neurosciences

Association of SORL1 gene variants with Alzheimer's disease

Heike Koelsch et al.

BRAIN RESEARCH (2009)

Article Neurosciences

SORL1 is genetically associated with Alzheimer disease in a Japanese population

Ryo Kimura et al.

NEUROSCIENCE LETTERS (2009)

Article Geriatrics & Gerontology

Genetic association between SORL1 polymorphisms and Alzheimer's disease in a Japanese population

Nobuto Shibata et al.

DEMENTIA AND GERIATRIC COGNITIVE DISORDERS (2008)

Article Neurosciences

SORL1 variants and risk of late-onset Alzheimer's disease

Yonghong Li et al.

NEUROBIOLOGY OF DISEASE (2008)

Article Biochemistry & Molecular Biology

SorLA/LR11 regulates processing of amyloid precursor protein via interaction with adaptors GGA and PACS-1

Vanessa Schmidt et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Genetics & Heredity

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

Ekaterina Rogaeva et al.

NATURE GENETICS (2007)

Article Multidisciplinary Sciences

Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein

OM Andersen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Clinical Neurology

Loss of apolipoprotein E receptor LR11 in Alzheimer disease

CR Scherzer et al.

ARCHIVES OF NEUROLOGY (2004)

Article Neurosciences

Local neuroinflammation and the progression of Alzheimer's disease

PL McGeer et al.

JOURNAL OF NEUROVIROLOGY (2002)