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Point mutation

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  • Copy Number Variation in Familial Parkinson Disease

    Nathan Pankratz, Alexandra Dumitriu, Kurt N. Hetrick, Mei Sun, Jeanne C. Latourelle, Jemma B. Wilk, Cheryl Halter, Kimberly F. Doheny, James F. Gusella, William C. Nichols, Richard H. Myers, Tatiana Foroud, Anita L. DeStefano, the PSG–PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories

    published 02 Aug 2011

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  • Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue

    Michael J. Devine, Alice Kaganovich, Mina Ryten, Adamantios Mamais, Daniah Trabzuni, Claudia Manzoni, Philip McGoldrick, Diane Chan, Allissa Dillman, Julia Zerle, Susannah Horan, Jan-Willem Taanman, John Hardy, Jose-Felix Marti-Masso, Daniel Healey, Anthony H. Schapira, Benjamin Wolozin, Rina Bandopadhyay, Mark R. Cookson, Marcel P. van der Brug, Patrick A. Lewis

    published 22 Jul 2011

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  • Analysis of al-2 Mutations in Neurospora

    Violeta Díaz-Sánchez, Alejandro F. Estrada, Danika Trautmann, M. Carmen Limón, Salim Al-Babili, Javier Avalos

    published 19 Jul 2011

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  • Recurrent Chromosomal Copy Number Alterations in Sporadic Chordomas

    Long Phi Le, G. Petur Nielsen, Andrew Eric Rosenberg, Dafydd Thomas, Julie M. Batten, Vikram Deshpande, Joseph Schwab, Zhenfeng Duan, Ramnik J. Xavier, Francis J. Hornicek, A. John Iafrate

    published 13 May 2011

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  • Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens

    Silvia Querings, Janine Altmüller, Sascha Ansén, Thomas Zander, Danila Seidel, Franziska Gabler, Martin Peifer, Eva Markert, Kathryn Stemshorn, Bernd Timmermann, Beate Saal, Stefan Klose, Karen Ernestus, Matthias Scheffler, Walburga Engel-Riedel, Erich Stoelben, Elisabeth Brambilla, Jürgen Wolf, Peter Nürnberg, Roman K. Thomas

    published 05 May 2011

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