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

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The Rotterdam Study: 2018 update on objectives, design and main results.Endosomal Traffic Jams Represent a Pathogenic Hub and Therapeutic Target in Alzheimer's Disease.Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

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P2860

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

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Characterization of pathogenic ...... nical interpretation strategy.

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Characterization of pathogenic ...... nical interpretation strategy.

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André G Uitterlinden

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Eva Louwersheimer

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Frank J Wolters

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Jeroen Gj van Rooij

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John C van Swieten

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M Arfan Ikram

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Marc Hulsman

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Marcel Jt Reinders

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Marjan Weiss

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Tsz Hang Wong

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P2860

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Interaction of the cytosolic domains of sorLA/LR11 with the amyloid precursor protein (APP) and beta-secretase beta-site APP-cleaving enzyme

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

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

Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation

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

The genetic landscape of Alzheimer disease: clinical implications and perspectives

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

Rare-variant association analysis: study designs and statistical tests

P2888

ejhg.2017.87

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scholarly article

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10.1038/EJHG.2017.87

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Philip Scheltens

Cornelia M. van Duijn

Najaf Amin

André Uitterlinden

Albert Hofman

Hanne Meijers-Heijboer

Sven J van der Lee

Wiesje van der Flier

Henne Holstege

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2017-05-24T00:00:00Z

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Alzheimer's disease

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5567154

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

about

P2860

P2860

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

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