List of works - Heasoo Koo

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 published on April 7, 2011

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

scientific article

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

scientific article published on 4 December 2014

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

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

scientific article published on 5 October 2015

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

scientific article

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

scientific article published on 20 January 2016

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

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

scientific article

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

scientific article

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

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy.

scientific article published on 11 April 2018

List of works by Heasoo Koo

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

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

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

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

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

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

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

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

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

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

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

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

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

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy.