Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study von Moss, Davina J Hensman, MBBS, Pardiñas, Antonio F, PhD, Langbehn, Douglas, Prof, Lo, Kitty, PhD, Leavitt, Blair R, Prof, Roos, Raymund, Prof, Durr, Alexandra, Prof, Mead, Simon, Prof, Holmans, Peter, Prof, Jones, Lesley, Prof, Tabrizi, Sarah J, Prof

Volltext

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion von LEE, J.-M, RAMOS, E. M, MARGOLIS, R. L, SQUITIERI, F, OROBELLO, S, DI DONATO, S, GOMEZ-TORTOSA, E, AYUSO, C, SUCHOWERSKY, O, TRENT, R. J. A, MCCUSKER, E, NOVELLETTO, A, LEE, J.-H, FRONTALI, M, JONES, R, ASHIZAWA, T, FRANK, S, SAINT-HILAIRE, M. H, HERSCH, S. M, ROSAS, H. D, LUCENTE, D, HARRISON, M. B, ZANKO, A, GILLIS, T, ABRAMSON, R. K, MARDER, K, SEQUEIROS, J, PAULSEN, J. S, LANDWEHRMEYER, G. B, MYERS, R. H, MACDONALD, M. E, GUSELLA, J. F, MYSORE, J. S, HAYDEN, M. R, WARBY, S. C, MORRISON, P, NANCE, M, ROSS, C. A

Volltext

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) von Stivaros, Stavros, Garg, Shruti, Tziraki, Maria, Cai, Ying, Thomas, Owen, Mellor, Joseph, Morris, Andrew A, Jim, Carly, Szumanska-Ryt, Karolina, Parkes, Laura M, Haroon, Hamied A, Montaldi, Daniela, Webb, Nicholas, Keane, John, Castellanos, Francisco X, Silva, Alcino J, Huson, Sue, Williams, Stephen, Gareth Evans, D, Emsley, Richard, Green, Jonathan

Volltext

Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity St... von Ho, Aileen K., Landwehrmeyer, G. Bernhard, Rae, Daniela, Simpson, Sheila A., de Souza (Keylock), Jenny, Coulthard, Elizabeth, Gethin, Louise, Barker, Roger A., Fisher, Kate, Goodman, Anna, Hill, Susan, Swain, Rachel, Guzman, Natalie Valle, Callaghan, Jenny, Fullam, Ruth, Rosser, Anne, Tonner, Alison, Edwards, Maureen, Ho, Carrie, Pearson, Pauline, Foster, Jillian, McKenzie, Sue, Rothery, Jean, Deith, Catherine, Ireland, Jane, Harding, Alison, Laver, Fiona, Silva, Mark, Rowett, Liz, Musgrave, Hannah, Toscano, Jean, Gerrans, Emily, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Lashwood, Alison, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Doherty, Karen, Haider, Salman, Robertson, Nicola, Tabrizi, Sarah, Taylor, Rachel, Bek, Judith, Craufurd, David, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Oughton, Emma, Partington-Jones, Lucy, Westmoreland, Leann, Davidson, Lynn, Davison, Jill, Morgan, Karen, Savage, Lois, Wood, Josh, Siuda, Gill, Dixon, Kathryn, Armstrong, Richard, Burn, John, Weekes, Rebecca, Craven, Janet, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Bandmann, Oliver, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, Peppa, Nadia, Quarrell, Oliver, Tidswell, Katherine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Kennedy (nee Smith), Karen, Bucher, Walter, de Schepper, Beatrice, Eden, John, Hendrikx, Victor, King, Diana, Lenon-Bird, Anne, Rapaille, Lilliane, Santini, Helen, Sasinkova, Pavla, Soltysiak, Beverley, Smith, Steve, van der Leer, Hans, van der Meer, Lucienne, Wooldridge, Michael

Volltext

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in... von Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.

Volltext

Early development of infants with neurofibromatosis type 1: a case series von Kolesnik, Anna May, Jones, Emily Jane Harrison, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark Henry

Volltext

Sex bias in autism spectrum disorder in neurofibromatosis type 1 von Garg, Shruti, Heuvelman, Hein, Huson, Susan, Tobin, Hannah, Green, Jonathan

Volltext

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism von KOOLEN, David A, DUPONT, Juliette, DE VRIES, Bert B. A, PARKER, Michael J, DE LEEUW, Nicole, VISSERS, Lisenka E. L. M, VAN DEN HEUVEL, Simone P. A, BRADBURY, Alyson, STEER, James, DE BROUWER, Arjan P. M, TEN KATE, Leo P, NILLESEN, Willy M

Volltext