Affiliation: Duke University Medical Center
- A genetic hypothesis for Chiari I malformation with or without syringomyeliaM C Speer
Center for Human Genetics, Division of Neuroradiology, Department of Surgery, Duke University Medical Center, Durham, North Carolina 27710, USA
Neurosurg Focus 8:E12. 2000..These data, together with the cosegregation of the trait with known genetic syndromes, support the authors' hypothesis of a genetic basis for some CM1/S cases...
- Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7M C Speer
Duke University Medical Center, Box 3455, Durham, NC 27710, USA
Am J Hum Genet 64:556-62. 1999..Three of five families appear to be unlinked to this new locus on chromosome 7, thus establishing further heterogeneity within the LGMD1 diagnostic classification...
- T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect familiesMarcy C Speer
Duke University Medical Center, Center for Human Genetics, Durham, North Carolina 27710, USA
Am J Med Genet 110:215-8. 2002..In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample...
- Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432Marcy C Speer
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Neurogenetics 4:83-5. 2002..We also demonstrate that five additional CMT2 families are unlinked to 19q markers, providing further evidence of CMT2 heterogeneity...
- Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson diseaseE R Martin
Center for Human Genetics, Box 2903, Duke University Medical Center, Durham, NC 27710, USA
JAMA 286:2245-50. 2001..001) was detected between 4 of the 5 SNPs (SNPs 3, 9i, 9ii, and 11). CONCLUSIONS: This integrated approach of genetic linkage and positional association analyses implicates tau as a susceptibility gene for idiopathic PD...