Affiliation: University of Washington
- A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheathsEva 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...
- Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patientsCraig 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...
- Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizuresC 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...
- SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveCraig 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...
- Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) geneCraig 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....
- Clinicopathological and genetic study of early-onset demyelinating neuropathyYesim 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...
- Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan 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...
- Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth diseaseNadia 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....
- Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Kristien 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...
- Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathyJan 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...
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick
Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
Brain 131:1217-27. 2008....
- 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...
- Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana 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...
- Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth diseaseMarina 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...
- Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathiesKinga 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...
- MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien 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...
- Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IVNathalie 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...
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Zuchner
Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
Nat Genet 36:449-51. 2004
- Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophyGert 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...
- Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3Joy 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....