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

PLoS genetics, 2016-02, Vol.12 (2), p.e1005829-e1005829

2016

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

Neurology, 2013-07, Vol.81 (2), p.165-173

2013

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Immunoglobulin G4–associated inflammatory pseudotumor of urinary bladder: a case report

Annals of diagnostic pathology, 2013-12, Vol.17 (6), p.540-543

2013

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Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

Journal of Korean medical science, 2018, Vol.33 (17)

2018

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

Human mutation, 2011-06, Vol.32 (6), p.669-677

2011

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

BMC medical genetics, 2013-12, Vol.14 (1), p.125-125, Article 125

2013

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Electron Microscopy Pathology of ADSSL1 Myopathy

Journal of clinical neurology (Seoul, Korea), 2017-01, Vol.13 (1), p.105-106

2017

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

Human mutation, 2016-05, Vol.37 (5), p.473-480

2016

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Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

Journal of Korean Medical Science, 2018, 33(17), , pp.32-39

2018

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Iron removal with phlebotomy and recombinant human erythropoietin in secondary hemochromatosis after allogeneic bone marrow transplantation

Pediatrics international, 2006-04, Vol.48 (2), p.174-177

2006

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Bimodal upregulation of glial cell line‐derived neurotrophic factor (GDNF) in the neonatal rat brain following ischemic/hypoxic injury

International journal of developmental neuroscience, 2002-11, Vol.20 (7), p.555-562

2002

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

Neuromuscular disorders : NMD, 2013-08, Vol.23 (8), p.656-663

2013

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

JAMA neurology, 2013-05, Vol.70 (5), p.607

2013

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

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.104-104, Article 104

2013

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A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy: e1005829

PLoS genetics, 2016-02, Vol.12 (2)

2016

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Zonal Difference and Prognostic Significance of Foxp3 Regulatory T Cell Infiltration in Breast Cancer

Journal of breast cancer, 2014-03, Vol.17 (1), p.8

2014

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

Molecular medicine reports, 2016-07, Vol.14 (1), p.33-40

2016

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

Annals of human genetics, 2015-11, Vol.79 (6), p.460-469

2015

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Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V

Journal of clinical neurology (Seoul, Korea), 2016-07, Vol.12 (3), p.373-375

2016

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

BMC neurology, 2015-10, Vol.15 (1), p.179-179, Article 179

2015

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A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.580-586

2013

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Middle mediastinal lesions: imaging findings and pathologic correlation

European journal of radiology, 2000-07, Vol.35 (1), p.30-38

2000

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

Neurogenetics, 2014-08, Vol.15 (3), p.171-182

2014

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A family with axonal sensorimotor polyneuropathy with TUBB3 mutation

Molecular medicine reports, 2015-04, Vol.11 (4), p.2729-2734

2015

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

Journal of Clinical Neurology, 2015, 11(1), , pp.92-96

2015

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

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

Immunoglobulin G4–associated inflammatory pseudotumor of urinary bladder: a case report

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

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

Electron Microscopy Pathology of ADSSL1 Myopathy

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

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

Iron removal with phlebotomy and recombinant human erythropoietin in secondary hemochromatosis after allogeneic bone marrow transplantation

Bimodal upregulation of glial cell line‐derived neurotrophic factor (GDNF) in the neonatal rat brain following ischemic/hypoxic injury

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

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

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

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy: e1005829

Zonal Difference and Prognostic Significance of Foxp3 Regulatory T Cell Infiltration in Breast Cancer

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

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

Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V

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

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Middle mediastinal lesions: imaging findings and pathologic correlation

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

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation

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

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