Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A Article Swipe

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Andrew B. Stergachis , Elizabeth Blue , Madelyn A. Gillentine , Lee-kai Wang , Ulrike Schwarze , Adriana E. Sedeño-Cortés , Jane Ranchalis , Aimee Allworth , Austin E. Bland , Sirisak Chanprasert , Jingheng Chen , Daniel Doherty , Andrew B. Folta , Ian Glass , Martha Horike‐Pyne , Alden Huang , Alyna Khan , Kathleen A. Leppig , Danny E. Miller , Ghayda Mirzaa , Azma Parhin , Wendy H. Raskind , Elisabeth A. Rosenthal , Sam Sheppeard , Samuel Strohbehn , Virginia P. Sybert , Thao Tran , Mark H. Wener , Peter H. Byers , Stanley F. Nelson , Michael J. Bamshad , Katrina M. Dipple , Gail P. Jarvik , Suzanne Hoppins , Fuki M. Hisama ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1212/nxg.0000000000200090

This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.

Related Topics

Computational Biology

Molecular Biology

Mitochondrial Dna

Rna

Concepts

Biology RNA splicing Alternative splicing Gene isoform Genetics Intron MFN2 Nonsense-mediated decay Complementary DNA Gene Computational biology Molecular biology Mitochondrial DNA RNA mitochondrial fusion

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Type: article
Language: en
Landing Page: https://doi.org/10.1212/nxg.0000000000200090
PDF: https://ng.neurology.org/content/nng/9/5/e200090.full.pdf
OA Status: gold
Cited By: 6
References: 16
Related Works: 10
OpenAlex ID: https://openalex.org/W4385650857

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OpenAlex ID: https://openalex.org/W4385650857

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DOI: https://doi.org/10.1212/nxg.0000000000200090

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Title: Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

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Type: article

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Language: en

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Publication year: 2023

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Publication date: 2023-08-08

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Authors: Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine, Lee-kai Wang, Ulrike Schwarze, Adriana E. Sedeño-Cortés, Jane Ranchalis, Aimee Allworth, Austin E. Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Ian Glass, Martha Horike‐Pyne, Alden Huang, Alyna Khan, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Azma Parhin, Wendy H. Raskind, Elisabeth A. Rosenthal, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Thao Tran, Mark H. Wener, Peter H. Byers, Stanley F. Nelson, Michael J. Bamshad, Katrina M. Dipple, Gail P. Jarvik, Suzanne Hoppins, Fuki M. Hisama

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Landing page: https://doi.org/10.1212/nxg.0000000000200090

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PDF URL: https://ng.neurology.org/content/nng/9/5/e200090.full.pdf

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OA URL: https://ng.neurology.org/content/nng/9/5/e200090.full.pdf

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Concepts: Biology, RNA splicing, Alternative splicing, Gene isoform, Genetics, Intron, MFN2, Nonsense-mediated decay, Complementary DNA, Gene, Computational biology, Molecular biology, Mitochondrial DNA, RNA, mitochondrial fusion

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Cited by: 6

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Citations by year (recent): 2025: 4, 2024: 1, 2023: 1

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References (count): 16

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Related works (count): 10

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