Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
Day, J W, Ricker, K, Jacobsen, J F, Rasmussen, L J, Dick, K A, Kress, W, Schneider, C, Koch, M C, Beilman, G J, Harrison, A R, Dalton, J C, Ranum, L P W
Published in Neurology (25.02.2003)
Published in Neurology (25.02.2003)
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Journal Article
Correlating phenotype and genotype in the periodic paralyses
Miller, T M, Dias da Silva, M R, Miller, H A, Kwiecinski, H, Mendell, J R, Tawil, R, McManis, P, Griggs, R C, Angelini, C, Servidei, S, Petajan, J, Dalakas, M C, Ranum, L P W, Fu, Y H, Ptácek, L J
Published in Neurology (09.11.2004)
Published in Neurology (09.11.2004)
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Journal Article
Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2
Savkur, R.S., Philips, A.V., Cooper, T.A., Dalton, J.C., Moseley, M.L., Ranum, L.P.W., Day, J.W.
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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Journal Article
Sudden cardiac death in myotonic dystrophy type 2
Schoser, B G H, Ricker, K, Schneider-Gold, C, Hengstenberg, C, Dürre, J, Bültmann, B, Kress, W, Day, J W, Ranum, L P W
Published in Neurology (28.12.2004)
Published in Neurology (28.12.2004)
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Journal Article
The clinical and genetic spectrum of spinocerebellar ataxia 14
Chen, D-H, Cimino, P J, Ranum, L P W, Zoghbi, H Y, Yabe, I, Schut, L, Margolis, R L, Lipe, H P, Feleke, A, Matsushita, M, Wolff, J, Morgan, C, Lau, D, Fernandez, M, Sasaki, H, Raskind, W H, Bird, T D
Published in Neurology (12.04.2005)
Published in Neurology (12.04.2005)
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Journal Article
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Koob, Michael D, Ranum, Laura P.W, Moseley, Melinda L, Schut, Lawrence J, Benzow, Kellie A, Bird, Thomas D, Day, John W
Published in Nature genetics (01.04.1999)
Published in Nature genetics (01.04.1999)
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Journal Article
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
Udd, B., Meola, G., Krahe, R., Thornton, C., Ranum, L.P.W., Bassez, G., Kress, W., Schoser, B., Moxley, R.
Published in Neuromuscular disorders : NMD (01.06.2006)
Published in Neuromuscular disorders : NMD (01.06.2006)
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Conference Proceeding
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
Moseley, M L, Benzow, K A, Schut, L J, Bird, T D, Gomez, C M, Barkhaus, P E, Blindauer, K A, Labuda, M, Pandolfo, M, Koob, M D, Ranum, L P
Published in Neurology (01.12.1998)
Published in Neurology (01.12.1998)
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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
Gaspar, C., Lopes-Cendes, I., Hayes, S., Goto, J., Arvidsson, K., Dias, A., Silveira, I., Maciel, P., Coutinho, P., Lima, M., Zhou, Y.-X., Soong, B.-W., Watanabe, M., Giunti, P., Stevanin, G., Riess, O., Sasaki, H., Hsieh, M., Nicholson, G.A., Brunt, E., Higgins, J.J., Lauritzen, M., Tranebjaerg, L., Volpini, V., Wood, N., Ranum, L., Tsuji, S., Brice, A., Sequeiros, J., Rouleau, G.A.
Published in American journal of human genetics (01.02.2001)
Published in American journal of human genetics (01.02.2001)
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Journal Article
Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5
Lorenzo, D N, Forrest, S M, Ikeda, Y, Dick, K A, Ranum, L P W, Knight, M A
Published in Neurology (12.12.2006)
Published in Neurology (12.12.2006)
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Journal Article
Genetic mapping of a second myotonic dystrophy locus
Ranum, Laura P. W, Rasmussen, Paul F, Benzow, Kellie A, Koob, Michael D, Day, John W
Published in Nature genetics (01.06.1998)
Published in Nature genetics (01.06.1998)
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Journal Article
Spinocerebellar ataxia type 10 is rare in populations other than Mexicans
Matsuura, T, Ranum, L P W, Volpini, V, Pandolfo, M, Sasaki, H, Tashiro, K, Watase, K, Zoghbi, H Y, Ashizawa, T
Published in Neurology (26.03.2002)
Published in Neurology (26.03.2002)
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Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies: 3rd Workshop, 14–16 February 2003, Naarden, The Netherlands
Udd, B, Meola, G, Krahe, R, Thornton, C, Ranum, L, Day, J, Bassez, G, Ricker, K
Published in Neuromuscular disorders : NMD (01.09.2003)
Published in Neuromuscular disorders : NMD (01.09.2003)
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Journal Article
Conference Proceeding
Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7
Kaytor, Michael D., Duvick, Lisa A., Skinner, Pamela J., Koob, Michael D., Ranum, Laura P. W., Orr, Harry T.
Published in Human molecular genetics (01.09.1999)
Published in Human molecular genetics (01.09.1999)
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