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Research article

First published 2017-7

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia

Paolo Rubba, Marco Gentile, Gennaro Marotta [...]

European Journal of Preventive Cardiology

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Research article

First published 2010-1-28

Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

Estrella Gómez-Tortosa, Sagrario Barquero, Manuel Barón [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2019-08

Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations

Lulu Huang, Mariam Aghajan, Tianna Quesenberry [...]

Nucleic Acid Therapeutics

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Research article

First published 2012-05

A Polymerase Chain Reaction-Based Genotyping Assay for Detecting a Novel Sandhoff Disease-Causing Mutation

Braden B. Fitterer, Nick A. Antonishyn, Patricia L. Hall [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2017-11

Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

Jianping Xiao, Xueqin Guo, Yong Wang [...]

European Journal of Ophthalmology

Free access

Research article

First published 2022

Early-Onset Parkinson’s Disease and Brain Iron Accumulation Caused by a Novel Homozygous DJ-1 Mutation

Rong-Rong Lin, Qing-Qing Tao, Zhi-Ying Wu

Journal of Parkinson’s Disease

Free access

Research article

First published 2003-5

Neuropsychological stydy of familial Alzheimer's disease caused by mutation E280A in the presenilin 1 gene

Juan Carlos Arango Lasprilla, Jaime Iglesias, Francisco Lopera

American Journal of Alzheimer's Disease & Other Dementias®

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Review article

First published 2012-9-25

Phenotypic Profile of Early-Onset Familial Alzheimer's Disease Caused by Presenilin-1 E280A Mutation

Diego Sepulveda-Falla, Markus Glatzel, Francisco Lopera

Journal of Alzheimer’s Disease

Open access

Research article

First published 2025-8

Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157

Leah Holm-Mercer, Tze How Mok, Danielle Sequeira [...]

Journal of Alzheimer’s Disease

Open access

Case report

First published 2025

Secretory Diarrhea Caused by Activating GUCY2C Mutation in a Patient With Atypical Kawasaki Disease: A Rare Case Report

Ramzi Mujahed, Mohamad A. Banat, Mahmoud Jawabreh [...]

Sage Open Pediatrics

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