Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia von Maselli, R.A., Arredondo, J., Nguyen, J., Lara, M., Ng, F., Ngo, M., Pham, J.M., Yi, Q., Stajich, J.M., McDonald, K., Hauser, M.A., Wollmann, R.L.

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Myotilin is mutated in limb girdle muscular dystrophy 1A von HAUSER, M. A, HORRIGAN, S. K, STAJICH, J. M, GASKELL, P. C, GILBERT, J. R, VANCE, J. M, PERICAK-VANCE, M. A, CARPEN, O, WESTBROOK, C. A, SPEER, M. C, SALMIKANGAS, P, TORIAN, U. M, VILES, K. D, DANCEL, R, TIM, R. W, TAIVAINEN, A, BARTOLONI, L, GILCHRIST, J. M

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Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4 von DEAK, K. L, LEMMERS, R. J. L. F, STAJICH, J. M, KLOOSTER, R, TAWIL, R, FRANTS, R. R, SPEER, M. C, VAN DER MAAREL, S. M, GILBERT, J. R

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Family-based case-control study of cigarette smoking and Parkinson disease von Scott, W K, Zhang, F, Stajich, J M, Scott, B L, Stacy, M A, Vance, J M

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Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1 von STAMM, D. S, POWELL, C. M, SPEER, M. C, STAJICH, J. M, ZISMANN, V. L, STEPHAN, D. A, CHESNUT, B, AYLSWORTH, A. S, KAHLER, S. G, DEAK, K. L, GILBERT, J. R

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Complete Genomic Screen in Parkinson Disease: Evidence for Multiple Genes von Scott, William K, Nance, Martha A, Watts, Ray L, Hubble, Jean P, Koller, William C, Lyons, Kelly, Pahwa, Rajesh, Stern, Matthew B, Colcher, Amy, Hiner, Bradley C, Jankovic, Joseph, Ondo, William G, Allen, Jr, Fred H, Goetz, Christopher G, Small, Gary W, Masterman, Donna, Mastaglia, Frank, Laing, Nigel G, Stajich, Jeffrey M, Slotterbeck, Brandon, Booze, Michael W, Ribble, Robert C, Rampersaud, Evadnie, West, Sandra G, Gibson, Rachel A, Middleton, Lefkos T, Roses, Allen D, Haines, Jonathan L, Scott, Burton L, Vance, Jeffery M, Pericak-Vance, Margaret A

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Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease von VAN DER WALT, J. M, MARTIN, E. R, PAHWA, R, STERN, M. B, COLCHER, A, HINER, B. C, JANKOVIC, J, ONDO, W. G, ALLEN, F. H, GOETZ, C. G, SMALL, G. W, MASTAGLIA, F, SCOTT, W. K, ROSES, A. D, STAJICH, J. M, BOOZE, M. W, FUJIWARA, K, GIBSON, R. A, MIDDLETON, L. T, SCOTT, B. L, PERICAK-VANCE, M. A, VANCE, J. M, ZHANG, F, NANCE, M. A, WATTS, R. L, HUBBLE, J. P, HAINES, J. L, KOLLER, W. C, LYONS, K

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Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7 von Speer, Marcy C., Vance, Jeffery M., Grubber, Janet M., Lennon Graham, Felicia, Stajich, Jeffrey M., Viles, Kristi D., Rogala, Allison, McMichael, Robert, Chutkow, Jerry, Goldsmith, Claire, Tim, Richard W., Pericak-Vance, Margaret A.

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Association of Single-Nucleotide Polymorphisms of the Tau Gene With Late-Onset Parkinson Disease von Martin, Eden R, Scott, William K, Nance, Martha A, Watts, Ray L, Hubble, Jean P, Koller, William C, Lyons, Kelly, Pahwa, Rajesh, Stern, Matthew B, Colcher, Amy, Hiner, Bradley C, Jankovic, Joseph, Ondo, William G, Allen, Jr, Fred H, Goetz, Christopher G, Small, Gary W, Masterman, Donna, Mastaglia, Frank, Laing, Nigel G, Stajich, Jeffrey M, Ribble, Robert C, Booze, Michael W, Rogala, Allison, Hauser, Michael A, Zhang, Fengyu, Gibson, Rachel A, Middleton, Lefkos T, Roses, Allen D, Haines, Jonathan L, Scott, Burton L, Pericak-Vance, Margaret A, Vance, Jeffery M

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Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1 von Stamm, D S, Powell, C M, Stajich, J M, Zismann, V L, Stephan, D A, Chesnut, B, Aylsworth, A S, Kahler, S G, Deak, K L, Gilbert, J R, Speer, M C

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Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD) von GILBERT, J. R, STAJICH, J. M, ROZEAR, M, SAMSON, F, FARDEAU, M, ROSES, A. D, PERICAK-VANCE, M. A, WALL, S, CARTER, S. C, QIU, H, VANCE, J. M, STEWART, C. S, SPEER, M. C, PUFKY, J, YAMAOKA, L. H

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Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity von Othmane, Kamel Ben, Middleton, Lefkos T., Loprest, Lorraine J., Wilkinson, Kenneth M., Lennon, Felicia, Rozear, Marvin P., Stajich, Jeffrey U., Gaskell, Perry C., Roses, Allen D., Pericak-Vance, Margaret A., Vance, Jeffery M.

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The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B von Bastress, K.L., Stajich, J.M., Speer, M.C., Gilbert, J.R.

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Haplotype Analysis in Icelandic Families Defines a Minimal Interval for the Macular Corneal Dystrophy Type I Gene von Liu, Ning-Pu, Baldwin, Jennifer, Jonasson, Fridbert, Dew-Knight, Susan, Stajich, Jeffrey M., Lennon, Felicia, Pericak-Vance, Margaret A., Klintworth, Gordon K., Vance, Jeffery M.

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Coexistence of macular corneal dystrophy types I and II in a single sibship von Liu, Ning-Pu, Baldwin, Jennifer, Lennon, Felicia, Stajich, Jeffrey M, Thonar, Eugene J-M A, Pericak-Vance, Margaret A, Klintworth, Gordon K, Vance, Jeffery M

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Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B von Vance, J M, Speer, M C, Stajich, J M, West, S, Wolpert, C, Gaskell, P, Lennon, F, Tim, R M, Rozear, M, Othmane, K B

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Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37 von Speer, Marcy C., Tandan, Rup, Rao, Nagesh P., Fries, Timothy, Stajich, Jeffrey M., Bolhuis, Pieter A., Jöbsis, G. Joost, Vance, Jeffery M., Viles, Kristi D., Sheffield, Karen, James, Christi, Kahler, Stephen G., Pettenati, Mark, Gilbert, John R., Denton, Peter H., Yamaoka, Larry H., Pericak-Vance, Margaret A.

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Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy von Speer, M C, Gilchrist, J M, Stajich, J M, Gaskell, P C, Westbrook, C A, Horrigan, S K, Bartoloni, L, Yamaoka, L H, Scott, W K, Pericak-Vance, M A

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Use of a CEPH Meiotic Breakpoint Panel to Refine the Locus of Limb-Girdle Muscular Dystrophy Type 1A (LGMD1A) to a 2-Mb Interval on 5q31 von Bartoloni, Lucia, Horrigan, Stephen K., Viles, Kristi D., Gilchrist, James M., Stajich, Jeffery M., Vance, Jeffery M., Yamaoka, Larry H., Pericak-Vance, Margaret A., Westbrook, Carol A., Speer, Marcy C.

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Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy von SPEER, M. C, GILCHRIST, J. M, VANCE, J. M, YAMAOKA, L. H, ROSES, A. D, PERICAK-VANCE, M. A, CHUTKOW, J. G, MCMICHAEL, R, WESTBROOK, C. A, STAJICH, J. M, JORGENSON, E. M, GASKELL, P. C, ROSI, B. L, RAMESAR, R

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