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Publications by Michael N. Weedon

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

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A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine

Molecular Biology

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Exome Sequencing Reveals a Novel MFN2 Missense Mutation in a Chinese Family With Charcot‑Marie‑Tooth Type 2A

Experimental and Therapeutic Medicine

Cancer Research

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A1

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2U

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MORC2mutations Cause Axonal Charcot-Marie-Tooth Disease With Pyramidal Signs

Annals of Neurology

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Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family

Annals of Neurology

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M

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A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

American Journal of Human Genetics

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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2O

English