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Open access

Article commentary

First published 2018

CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?

Giorgia Canali, Laurence Goutebroze

Neuroscience Insights

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

Case report

First published 2023-9

Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report

Satoshi Marutani, Takako Nishino, Osamu Shimokawa [...]

Pediatric and Developmental Pathology

Retricted access

Case report

First published 2023-3

Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant

Sihem Darouich, Houda Bellamine, Ichrak Khamassi

Pediatric and Developmental Pathology

Retricted access

Research article

First published 2024-07

A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

Beatriz Villafuerte, Carlos Carrasco-López, Amanda Herranz [...]

Thyroid®

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Brief report

First published 2013-7-9

Novel Missense Progranulin Gene Mutation Associated with the Semantic Variant of Primary Progressive Aphasia

Chiara Cerami, Alessandra Marcone, Daniela Galimberti [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2018-06

Functional Evaluation of ZNF350 Missense Genetic Variants Associated with Breast Cancer Susceptibility

Nasha Zhang, Youhua Lu, Xijun Liu [...]

DNA and Cell Biology

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Research article

First published 2025-7

A novel missense variant in the RELN gene in sheep with lissencephaly and cerebellar hypoplasia

Leah K. Manning, Emily Winkenwerder, Louise Baskind [...]

Veterinary Pathology

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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 2020-2

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem [...]

Journal of Child Neurology

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