Search Result "disease causing mutation"


Research Article

Alz-Disc: A Tool to Discriminate Disease-causing and Neutral Mutations inAlzheimer's Disease

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 26 Issue: 4 Year: 2023 Page: 769-777
Author(s): S. Akila Parvathy Dharshini,M. Michael Gromiha

Frontotemporal Dementia Caused by CHMP2B Mutations

Journal: Current Alzheimer Research
Volume: 8 Issue: 3 Year: 2011 Page: 246-251
Author(s): A. M. Isaacs, P. Johannsen, I. Holm, J. E. Nielsen, FReJA Consortium

Review Article

Computational Approaches for Investigating Disease-causing Mutations in Membrane Proteins: Database Development, Analysis and Prediction

Journal: Current Topics in Medicinal Chemistry
Volume: 22 Issue: 21 Year: 2022 Page: 1766-1775
Author(s): M. Michael Gromiha

Research Article

Effect of Disease Causing Missense Mutations on Intrinsically DisorderedRegions in Proteins

Journal: Protein & Peptide Letters
Volume: 29 Issue: 3 Year: 2022 Page: 254-267
Author(s): Hampapathalu A. Nagarajaram,Suryanarayana Seera

Research Article open access plus

Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort

Journal: Current Alzheimer Research
Volume: 18 Issue: 3 Year: 2021 Page: 265-272
Author(s): Chenhui Mao,Jie Li,Liling Dong,Xinying Huang,Dan Lei,Jie Wang,Shanshan Chu,Caiyan Liu,Bin Peng,Gustavo C. Román,Liying Cui,Jing Gao

Syndromes Caused by the Mutations in GLI3 Gene

Journal: Current Pediatric Reviews
Volume: 6 Issue: 4 Year: 2010 Page: 219-225
Author(s): Ichiro Naruse, Etsuko Ueta, Yoshiki Sumino, Masaya Ogawa

Pharmacological Suppression of Premature Stop Mutations that Cause Genetic Diseases

Journal: Current Pharmacogenomics
Volume: 3 Issue: 4 Year: 2005 Page: 259-269
Author(s): K. M. Keeling, D. M. Bedwell

The Development of Drug Therapies for Frontotemporal Dementia Caused by Progranulin Mutations

Ebook: Frontiers in Clinical Drug Research - Alzheimer Disorders
Volume: 3 Year: 2015
Author(s): Louis De Muynck,Philip Van Damme
Doi: 10.2174/9781681080680115030007

Mutations of Mitochondrial DNA in Atherosclerosis and Atherosclerosis-Related Diseases

Journal: Current Pharmaceutical Design
Volume: 21 Issue: 9 Year: 2015 Page: 1158-1163
Author(s): Igor A. Sobenin,Andrey V. Zhelankin,Konstantin Y. Mitrofanov,Vasily V. Sinyov,Margarita A. Sazonova,Anton Y. Postnov,Alexander N. Orekhov

Review Article

Involvement of Gaucher Disease Mutations in Parkinson Disease

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 758-764
Author(s): Lluisa Vilageliu,Daniel Grinberg

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