Annals of Child Neurology

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Next-Generation Sequencing for the Early Diagnosis of Adolescent Patients with Suspected Charcot–Marie–Tooth Disease: A Case Series

Jongdae Park, Sanghoon Kim, Ji Young Ahn, Chul Hyun Park, Saeyoon Kim

Ann Child Neurol. 2022;30(2):64-66. Published online December 15, 2021
DOI: https://doi.org/10.26815/acn.2021.00528

Next-Generation Sequencing for the Early Diagnosis of Adolescent Patients with Suspected Charcot–Marie–Tooth Disease: A Case Series

Jongdae Park, Sanghoon Kim, Ji Young Ahn, Chul Hyun Park, Saeyoon Kim

Annals of Child Neurology. 2022;30(2):64-66

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A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome

Claudio Dello Russo, Francesco Padula, Gianluca Di Giacomo, Alvaro Mesoraca, Ivan Gabrielli, Domenico Bizzoco, Claudio Giorlandino

Prenatal Diagnosis. 2015;35(10):1018-1021

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Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

Menelaos Pipis, Alexander M. Rossor, Matilde Laura, Mary M. Reilly

Nature Reviews Neurology. 2019;15(11):644-656

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A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening

Baoheng Gui, Pu Yang, Zhongyuan Yao, Yanping Li, Donge Liu, Nenghui Liu, Sijia Lu, Desheng Liang, Lingqian Wu

Journal of Genetics and Genomics. 2016;43(3):155-159

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Corrigendum to “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing”

Helle Høyer, Geir J. Braathen, Øyvind L. Busk, Øystein L. Holla, Marit Svendsen, Hilde T. Hilmarsen, Linda Strand, Camilla F. Skjelbred, Michael B. Russell

BioMed Research International. 2015;2015:1-2

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Charcot-Marie-Tooth Disease

Harold Chen

Atlas of Genetic Diagnosis and Counseling. 2017;391-405

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Charcot-Marie-Tooth Disease

Harold Chen

Atlas of Genetic Diagnosis and Counseling. 2016;1-15

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Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Helle Høyer, Geir J. Braathen, Øyvind L. Busk, Øystein L. Holla, Marit Svendsen, Hilde T. Hilmarsen, Linda Strand, Camilla F. Skjelbred, Michael B. Russell

BioMed Research International. 2014;2014:1-13

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A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, Bruno Francou, Anne Guiochon-Mantel, Marie-Claire Malinge, Eric Leguern, Nicolas Lévy, Shahram Attarian, Philippe Latour, Nathalie Bonello-Palot

Genes. 2022;13(2):318

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Genetic landmarks through philately - Jean Martin Charcot (1825-1893) and Charcot-Marie-Tooth disease

Albert E Chudley

Clinical Genetics. 2000;57(6):420-422

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