PMC Articles for MedGen (Select 1648342) - PMC

Select item 68175251.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Andrea Accogli, Sara Calabretta, Judith St-Onge, Nassima Boudrahem-Addour, Alexandre Dionne-Laporte, Pascal Joset, Silvia Azzarello-Burri, Anita Rauch, Joel Krier, Elizabeth Fieg, Juan C. Pallais, Undiagnosed Diseases Network, Allyn McConkie-Rosell, Marie McDonald, Sharon F. Freedman, Jean-Baptiste Rivière, Joël Lafond-Lapalme, Brittany N. Simpson, Robert J. Hopkin, Aurélien Trimouille, Julien Van-Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H. Sherr, Mariasavina Severino, Guy A. Rouleau, Patricia T. Yam, Frédéric Charron, Myriam Srour

Am J Hum Genet. 2019 Oct 3; 105(4): 854–868. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.09.005

PMCID:: PMC6817525

Abstract Article PDF–1.6M

Select item 61560852.

Monogenic Disorders that Mimic the Phenotype of Rett Syndrome

Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu

Neurogenetics. Author manuscript; available in PMC 2018 Sep 25.

Published in final edited form as: Neurogenetics. 2018 Jan; 19(1): 41–47. Published online 2018 Jan 10. doi: 10.1007/s10048-017-0535-3

PMCID:: PMC6156085

Abstract Article PDF–339K

Select item 58944783.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart, Christel Depienne

Nat Genet. Author manuscript; available in PMC 2018 Apr 11.

Published in final edited form as: Nat Genet. 2017 Apr; 49(4): 511–514. Published online 2017 Feb 27. doi: 10.1038/ng.3794

PMCID:: PMC5894478

Abstract Article PDF–222K

Select item 53740274.

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

Saumya S. Jamuar, Klaus Schmitz-Abe, Alissa M. D’Gama, Marie Drottar, Wai-Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N. Lam, Mauricio R. Delgado, Nancy J. Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A. Alorainy, Abdullah Abu Jamea, Khaled Abu-Amero, May Griebel, Wendy Ward, Ed S. Lein, Kyriacos Markianos, A. James Barkovich, Caroline D. Robson, P. Ellen Grant, Thomas M. Bosley, Elizabeth C. Engle, Christopher A. Walsh, Timothy W. Yu

Nat Genet. Author manuscript; available in PMC 2017 Aug 27.

Published in final edited form as: Nat Genet. 2017 Apr; 49(4): 606–612. Published online 2017 Feb 27. doi: 10.1038/ng.3804

PMCID:: PMC5374027

Abstract Article PDF–1.8M

Select item 52597215.

Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease

Cynthia Sandor, Frantisek Honti, Wilfried Haerty, Konrad Szewczyk-Krolikowski, Paul Tomlinson, Sam Evetts, Stephanie Millin, Thomas Keane, Shane A. McCarthy, Richard Durbin, Kevin Talbot, Michele Hu, Caleb Webber, Chris P. Ponting, Richard Wade-Martins

Sci Rep. 2017; 7: 41188. Published online 2017 Jan 24. doi: 10.1038/srep41188

PMCID:: PMC5259721

Abstract Article PDF–535K

Select item 41545136.

MitoPark mice mirror the slow progression of key symptoms and L-DOPA response in Parkinson’s disease

D. Galter, K. Pernold, T. Yoshitake, E. Lindqvist, B. Hoffer, J. Kehr, N.-G. Larsson, L. Olson

Genes Brain Behav. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: Genes Brain Behav. 2010 Mar 1; 9(2): 173–181. Published online 2009 Oct 7. doi: 10.1111/j.1601-183X.2009.00542.x

PMCID:: PMC4154513

Abstract Article PDF–773K

Select item 41052597.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, Massimo Cincotta, Pierre Bitoun, Julia Wickert, Isabelle Lagroua, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Simone Rossi, Luc Defebvre, Linda De Meirleir, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quélin, Sabine Rudnik-Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dziezyc, Pierre Pollak, Jean-Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze

Neurology. 2014 Jun 3; 82(22): 1999–2002. doi: 10.1212/WNL.0000000000000477

PMCID:: PMC4105259

Abstract Article PDF–344K

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