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1-7 of 7 results for haploinsufficient autosomal dominant disease

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Retricted access

Research article

First published 2026-2

Applying Synthetic Nucleic Acid Therapeutics to Gene Activation for Haploinsufficient Diseases

Victor Tse, David R. Corey

Nucleic Acid Therapeutics

Retricted access

Research article

First published 2015-1-6

The Novel GRN g.1159_1160delTG Mutation is Associated with Behavioral Variant Frontotemporal Dementia

Alberto Calvi, Sara M.G. Cioffi, Paolo Caffarra [...]

Journal of Alzheimer’s Disease

Retricted access

Review article

First published 2019-3

Gene Therapy for Inherited Retinal Degeneration

Amirmohsen Arbabi, Amelia Liu, Hossein Ameri

Journal of Ocular Pharmacology and Therapeutics

Free access

Research article

First published 2015-10

Vascular Permeability in Cerebral Cavernous Malformations

Abdul G Mikati, Omaditya Khanna, Lingjiao Zhang [...]

Journal of Cerebral Blood Flow & Metabolism

Retricted access

Research article

First published 2016-9-6

Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation

Sara M.G. Cioffi, Daniela Galimberti, Federica Barocco [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2024

Male Infertility associated with a Novel PRKAR1A Mutation in Carney Complex

Maja Dimitrovska, Dijana Plaseska-Karanfilska, Jean K. Gogusev [...]

Clinical Medicine Insights: Endocrinology and Diabetes

Open access

Research article

First published 2024-10

Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells

Aditya Venkatesh, Taylor Mckenty, Syed Ali [...]

Nucleic Acid Therapeutics