Sage Journals: Discover world-class research

Open access

Research article

First published 2025-7

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population

Akinori Miyashita, Ai Obinata, Norikazu Hara [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2024-10

Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants

Garima Nagar, Shradheya R.R. Gupta, Vanshika Rustagi [...]

OMICS: A Journal of Integrative Biology

Open access

Research article

First published 2020-4

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Christopher Ronald Funk, Elizabeth S. Huey, Melanie M. May [...]

Journal of International Medical Research

Free access

Brief report

First published 2022

Rare Variant Analysis of PTRHD1 in Parkinson’s Disease in the Chinese Population

Chunyu Li, Ruwei Ou, Yanbing Hou [...]

Journal of Parkinson’s Disease

Retricted access

Brief report

First published 2023-08-15

SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer’s Disease-Associated SORL1 Missense Variants

Laetitia Miguel, Juliette Gervais, Gaël Nicolas [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2025-10

Immune system-associated genes in patients with Alzheimer's disease

Rui Yao, Ziyu Ouyang, Tianyan Xu [...]

Journal of Alzheimer’s Disease

Retricted access

Brief report

First published 2017-2-20

Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer’s Disease Genes in African Americans Identifies Novel PSEN Variants

Aurelie N’Songo, Minerva M. Carrasquillo, Xue Wang [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2019-07

Identification of Rare Variants Predisposing to Thyroid Cancer

Yanqiang Wang, Sandya Liyanarachchi, Katherine E. Miller [...]

Thyroid®

Open access

Research article

First published 2019-6

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

Julia Y Mescheriakova, Annemieke JMH Verkerk, Najaf Amin [...]

Multiple Sclerosis Journal

Retricted access

Research article

First published 2021-07-21

Novel Rare SORL1 Variants in Early-Onset Dementia

Anita Korpioja, Johanna Krüger, Susanna Koivuluoma [...]

Journal of Alzheimer’s Disease

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