List of works by Jeong Hyun Yoo

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

scientific article published in February 2016

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

scientific article

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

scientific article

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

scientific article published on 21 June 2013

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

scientific article

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy

scientific journal article

Cerebral white matter abnormalities in patients with charcot-marie-tooth disease

scientific article published on 18 November 2016

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

scientific article published on June 2008

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis

scientific article published on 18 April 2011

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

scientific article published on 12 July 2013

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene

scientific article

Proximal lower-limb weakness in Charcot-Marie-Tooth disease-reply

scientific article published on 01 December 2013

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

scientific article

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

scientific article published on 04 May 2016

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.

scientific article published on 7 June 2013

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