Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ et al.
Brain : a Journal of Neurology, 2024
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Kulsirichawaroj P et al.
Journal of Neuromuscular Diseases, 2024
Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
Uusitalo M et al.
The Febs Journal, 2021
Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
Geroldi A et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
Palaima P et al.
Orphanet Journal of Rare Diseases, 2019
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Punetha J et al.
Molecular Genetics and Metabolism, 2018
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
Zhao X et al.
Chinese Medical Journal, 2018
Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2.
Ruskamo S et al.
Scientific Reports, 2017
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW et al.
Brain : a Journal of Neurology, 2016
[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].
Luo W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002
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