Articles
- Open AccessDeleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, Orly Elpeleg
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
- Open AccessGenomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PDSara Morais, Rita Bastos-Ferreira, Jorge Sequeiros, Isabel Alonso
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Clinical/Scientific Notes
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
- Open AccessFTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
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