A mutation at codon 279 (N279k) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy von DELISLE, M.-B, MURRELL, J. R, RICHARDSON, R, TROFATTER, J. A, RASCOL, O, SOULAGES, X, MOHR, M, CALVAS, P, GHETTI, B

Volltext

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types von Gusella, James F, Ramesh, Vijaya, Menon, Anil G, Morin, Francine, Hara, Tetsuo, Bianchi, Albert B, Klein-Szanto, Andrés J. P, Gao, Jizong, Trofatter, James A, Kley, Nikolai, Seizinger, Bernd R

Volltext

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification von Church, Deanna M, Stotler, Christy J, Rutter, Joni L, Murrell, Jill R, Trofatter, James A, Buckler, Alan J

Volltext

Exon scanning for mutation of the NF2 gene in schwannomas von Jacoby, Lee B., MacCollin, Mia, Louls, David N., Mohney, Trina, Rublo, Mari-Paz, Pulaski, Karen, Trofatter, James A., Kley, Nikolai, Seizinger, Bernd, Ramesh, Vijaya, Gusella, James F.

Volltext

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor von Trofatter, James A., MacCollin, Mia M., Rutter, Joni L., Murrell, Jill R., Duyao, Mabel P., Parry, Dilys M., Eldridge, Roswell, Kley, Nikolai, Menon, Anil G., Pulaski, Karen, Haase, Volker H., Ambrose, Christine M., Munroe, David, Bove, Catherine, Haines, Jonathan L., Martuza, Robert L., MacDonald, Marcy E., Seizinger, Bernd R., Short, M.Priscilla, Buckler, Alan J., Gusella, James F.

Volltext

New Quantitative Trait Loci for the Genetic Variance in Circadian Period of Locomotor Activity between Inbred Strains of Mice von Hofstetter, J. R., Trofatter, J. A., Nurnberger, J. I., Kernek, K. L., Mayeda, A. R.

Volltext

Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene von FONTAINE, B, KHURANA, T. S, ROMANO, D, GUSELLA, J. F, BROWN, R. H, HOFFMAN, E. P, BRUNS, G. A. P, HAINES, J. L, TROFATTER, J. A, HANSON, M. P, RICH, J, MCFARLANE, H, YASEK, D. M

Volltext

Pelizaeus-Merzbacher Disease: Tight Linkage to Proteolipid Protein Gene Exon Variant von Trofatter, James A., Dlouhy, Stephen R., DeMyer, William, Conneally, P. Michael, Hodes, M. E.

Volltext

Mutational analysis of patients with neurofibromatosis 2 von MACCOLLIN, M, VIJAYA RAMESH, PARRY, D. M, GUSELLA, J. F, JACOBY, L. B, LOUIS, D. N, RUBIO, M.-P, PULASKI, K, TROFATTER, J. A, SHORT, M. P, BOVE, C, ELDRIDGE, R

Volltext

Suicide risk in Huntington's disease von Di Maio, L, Squitieri, F, Napolitano, G, Campanella, G, Trofatter, J A, Conneally, P M

Volltext

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 von Rouleau, Guy A, Wertelecki, Wladimir, Haines, Jonathan L, Hobbs, Wendy J, Trofatter, James A, Seizinger, Bernd R, Martuza, Robert L, Superneau, Duane W, Conneally, P. Michael, Gusella, James F

Volltext

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor von Trofatter, J A, MacCollin, M M, Rutter, J L, Murrell, J R, Duyao, M P, Parry, D M, Eldridge, R, Kley, N, Menon, A G, Pulaski, K

Volltext

Onset symptoms in 510 patients with Huntington's disease von Di Maio, L, Squitieri, F, Napolitano, G, Campanella, G, Trofatter, J A, Conneally, P M

Volltext

Myelin Protein Zero Gene Mutated in Charcot-Marie-Tooth Type 1B Patients von Su, Ying, Brooks, David G., Li, Lanying, Lepercq, Jacques, Trofatter, James A., Ravetch, Jeffrey V., Lebo, Roger V.

Volltext

Cloning and Characterization of a Novel Human Clathrin Heavy Chain Gene (CLTCL) von Long, Kimberly R., Trofatter, James A., Ramesh, Vijaya, McCormick, Mary Kay, Buckler, Alan J.

Volltext

Genetic linkage studies in Alzheimer's disease families von Pericak-Vance, M.A., Yamaoka, L.H., Haynes, C.S., Speer, M.C., Haines, J.L., Gaskell, P.C., Hung, W.-Y., Clark, C.M., Heyman, A.L., Trofatter, J.A., Eisenmenger, J.P., Gilbert, J.R., Lee, J.E., Alberts, M.J., Dawson, D.V., Bartlett, R.J., Earl, N.L., Siddique, T., Vance, J.M., Conneall, P.M., Roses, A.D.

Volltext

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma von Seizinger, B. R, Rouleau, G. A, Ozelius, L. J, Lane, A. H, Farmer, G. E, Lamiell, J. M, Haines, J, Yuen, J. W. M, Collins, D, Majoor-Krakauer, D, Bonner, T, Mathew, C, Rubenstein, A, Halperin, J, McConkie-Rosell, A, Green, J. S, Trofatter, J. A, Ponder, B. A, Eierman, L, Bowmer, M. I, Schimke, R, Oostra, B, Aronin, N, Smith, D. I, Drabkin, H, Waziri, M. H, Hobbs, W. J, Martuza, R. L, Conneally, P. M, Hsia, Y. E, Gusella, J. F

Volltext

Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus von TROFATTER, J. A, GUSELLA, J. F, HAINES, J. L

Volltext

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis von Blumenfeld, Anat, Slaugenhaupt, Susan A, Axelrod, Felicia B, Lucente, Diane E, Maayan, Channa, Liebert, Christopher B, Ozelius, Laurie J, Trofatter, James A, Haines, Jonathan L, Breakefield, Xandra O, Gusella, James F

Volltext

AhaII polymorphism in human X-linked proteolipid protein gene (PLP) von Trofatter, J A, Pratt, V M, Dlouhy, S R, Hodes, M E

Volltext