Sihoun Hahn

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths
    Eva Nelis
    Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerp, Belgium
    Neuromuscul Disord 12:869-73. 2002
  2. doi request reprint Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
    Craig L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, Washington 98195 6320, USA
    Epilepsia 50:1167-75. 2009
  3. ncbi request reprint Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
    C L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, USA
    Neurogenetics 6:143-9. 2005
  4. ncbi request reprint SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
    Craig L Bennett
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 55:713-20. 2004
  5. ncbi request reprint Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
    Craig L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA
    Am J Med Genet A 125:117-24; discussion 117. 2004
  6. ncbi request reprint Clinicopathological and genetic study of early-onset demyelinating neuropathy
    Yesim Parman
    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Millet Cad, Capa, 34390 Istanbul, Turkey
    Brain 127:2540-50. 2004
  7. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
  8. ncbi request reprint Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
    Nadia Ammar
    Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp UIA, Universiteitsplein 1, B 2610, Antwerp, Belgium
    Neuromuscul Disord 13:720-8. 2003
  9. pmc Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10
    Kristien Verhoeven
    Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium
    Am J Hum Genet 73:926-32. 2003
  10. ncbi request reprint Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Germany
    Brain 126:642-9. 2003

Collaborators

Detail Information

Publications20

  1. ncbi request reprint A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths
    Eva Nelis
    Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerp, Belgium
    Neuromuscul Disord 12:869-73. 2002
    ..This is the second homozygous missense mutation associated with recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths...
  2. doi request reprint Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients
    Craig L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children s Hospital and Regional Medical Center, Seattle, Washington 98195 6320, USA
    Epilepsia 50:1167-75. 2009
    ..Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal-onset PDS...
  3. ncbi request reprint Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
    C L Bennett
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, USA
    Neurogenetics 6:143-9. 2005
    ..In this study, we establish genetic heterogeneity for PDS, catalog 21 genes within the originally defined PDS interval, and identify additional recombinations that indicate a higher priority interval, containing just 11 genes...
  4. ncbi request reprint SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
    Craig L Bennett
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 55:713-20. 2004
    ..We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C...
  5. ncbi request reprint Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
    Craig L Bennett
    Division of Genetics and Development, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA
    Am J Med Genet A 125:117-24; discussion 117. 2004
    ....
  6. ncbi request reprint Clinicopathological and genetic study of early-onset demyelinating neuropathy
    Yesim Parman
    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Millet Cad, Capa, 34390 Istanbul, Turkey
    Brain 127:2540-50. 2004
    ..We did not discern a specific pattern of histopathology that could be correlated to mutations in a particular gene...
  7. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    ..Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes...
  8. ncbi request reprint Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
    Nadia Ammar
    Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp UIA, Universiteitsplein 1, B 2610, Antwerp, Belgium
    Neuromuscul Disord 13:720-8. 2003
    ....
  9. pmc Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10
    Kristien Verhoeven
    Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium
    Am J Hum Genet 73:926-32. 2003
    ..Expression analysis of ARHGEF10, by use of its mouse orthologue Gef10, showed that it is highly expressed in the peripheral nervous system. Our data support a role for ARHGEF10 in developmental myelination of peripheral nerves...
  10. ncbi request reprint Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Germany
    Brain 126:642-9. 2003
    ..These findings fitted the definition of intermediate type CMT and further support the view that GDAP1 is vital for both, axonal integrity and Schwann cell properties...
  11. doi request reprint Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
    Ines Dierick
    Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1217-27. 2008
    ....
  12. ncbi request reprint Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)
    Olga Koop
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, D 48129 Munster, Germany
    Neuromuscul Disord 17:624-30. 2007
    ..It was shown for a number of gigaxonin mutations that they impede this process leading to accumulation of microtubule associated proteins and there by impairing cellular functions...
  13. ncbi request reprint Hereditary spastic paraplegia 3A associated with axonal neuropathy
    Neviana Ivanova
    Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
    Arch Neurol 64:706-13. 2007
    ..To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia...
  14. ncbi request reprint Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease
    Marina L Kennerson
    Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord NSW, Australia
    Clin Chem 53:349-52. 2007
    ..High-resolution melting analysis with an automated instrument can be used to scan DNA for alterations, but its use in X-linked disorders has not been described...
  15. ncbi request reprint Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies
    Kinga Szigeti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Neuromolecular Med 8:243-54. 2006
    ..Molecular testing can help establish a secure diagnosis, enable genetic counseling regarding recurrence risk, potentially provide prognostic information, and in the near future may be important for the choice of therapies...
  16. ncbi request reprint MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    Kristien Verhoeven
    Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
    Brain 129:2093-102. 2006
    ..In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population...
  17. ncbi request reprint Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV
    Nathalie Verpoorten
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Institute Born Bunge, University of Antwerp, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Neuromuscul Disord 16:19-25. 2006
    ..NTRK1 mutations are only rarely reported in the European population. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with HSAN IV...
  18. ncbi request reprint Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Stephan Zuchner
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Nat Genet 36:449-51. 2004
  19. ncbi request reprint Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy
    Gert Hünermund
    Department of Neurology, University of Munster, Albert Schweitzer Strasse 33, 48129 Munster, Germany
    Muscle Nerve 29:601-4. 2004
    ..However, we identified several sequencing errors in the cDNA of SPHK1 as well as seven novel single-nucleotide polymorphisms...
  20. ncbi request reprint Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp, Antwerpen, Belgium
    J Peripher Nerv Syst 7:87-95. 2002
    ....