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There are 21262 results for: content related to: Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

  1. Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 497–504, Julia Falk, Magdalena Rohde, Mohamed M. Bekhite, Sophie Neugebauer, Peter Hemmerich, Michael Kiehntopf, Thomas Deufel, Christian A. Hübner and Christian Beetz

    Version of Record online : 5 MAR 2014, DOI: 10.1002/humu.22521

  2. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1357–1360, Guida Landouré, Peng-Peng Zhu, Charles M. Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael A. Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stevanin, Leslie G. Biesecker, for the NIH Intramural Sequencing Center, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques Jr, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck and Barrington G. Burnett

    Version of Record online : 12 AUG 2013, DOI: 10.1002/humu.22378

  3. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  4. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

  5. A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 165–169, Ying Yang, Wei Liu, Zhipeng Fang, Juan Shi, Fengyu Che, Chunxia He, Libo Yao, Enduo Wang and Yuanming Wu

    Version of Record online : 10 DEC 2015, DOI: 10.1002/humu.22930

  6. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

    Human Mutation

    Gaurav V. Harlalka, Meriel E. McEntagart, Neerja Gupta, Anna E. Skrzypiec, Mariusz W. Mucha, Barry A. Chioza, Michael A. Simpson, Ajith Sreekantan-Nair, Anthony Pereira, Sven Günther, Amir Jahic, Hamid Modarres, Heather Moore-Barton, Richard C. Trembath, Madhulika Kabra, Emma L. Baple, Seema Thakur, Michael A. Patton, Christian Beetz, Robert Pawlak and Andrew H. Crosby

    Version of Record online : 30 AUG 2016, DOI: 10.1002/humu.23060

  7. Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

    Human Mutation

    Volume 37, Issue 8, August 2016, Pages: 745–754, Patrick Forny, Anne-Sophie Schnellmann, Celine Buerer, Seraina Lutz, Brian Fowler, D. Sean Froese and Matthias R. Baumgartner

    Version of Record online : 23 MAY 2016, DOI: 10.1002/humu.23013

  8. You have full text access to this OnlineOpen article
    Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1449–1458, Patrick Forny, D. Sean Froese, Terttu Suormala, Wyatt W. Yue and Matthias R. Baumgartner

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22633

  9. Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 287–291, Alexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, Eric Bieth, Elvira Sondo, Natacha Martin, Bruno Costes, Catherine Costa, Michel Goossens, Luis J.V. Galietta, Emmanuelle Girodon and Pascale Fanen

    Version of Record online : 8 NOV 2012, DOI: 10.1002/humu.22236

  10. Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 473–480, Tomohiro Hori, Toshiyuki Fukao, Keiko Murase, Naomi Sakaguchi, Cary O. Harding and Naomi Kondo

    Version of Record online : 22 JAN 2013, DOI: 10.1002/humu.22258

  11. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 653–660, Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, University of Washington Center for Mendelian Genomics, Gert Matthijs and Hudson H. Freeze

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22983

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    15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 689–693, Abdul Noor, Lucie Dupuis, Kirti Mittal, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Tracy Stockley, John B. Vincent, Roberto Mendoza-Londono and Dimitri J. Stavropoulos

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22800

  13. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 703–709, Sven Günther, Ewelina Elert-Dobkowska, Anne S. Soehn, Sophie Hinreiner, Grace Yoon, Raoul Heller, Yorck Hellenbroich, Christian A. Hübner, Peter N. Ray, Ute Hehr, Peter Bauer, Anna Sulek and Christian Beetz

    Version of Record online : 28 APR 2016, DOI: 10.1002/humu.23000

  14. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giuseppe Novelli and Gianmarco Contino

    Published Online : 15 SEP 2009, DOI: 10.1002/9780470015902.a0021451

  15. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 257–262, E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, AI Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante, M Menéndez, SI Pascual-Pascual, A López de Munaín, MJ Garcia-Barcina and V Alvarez

    Version of Record online : 21 MAY 2012, DOI: 10.1111/j.1399-0004.2012.01896.x

  16. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Version of Record online : 21 MAY 2014, DOI: 10.1002/humu.22550

  17. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 69–78, Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi. F. Hamdan, So-Hee Lim, Catherine Brunel-Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin M.E.J. Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna Tyynismaa, Inge Cuppen, Nienke E. Verbeek, Connie T.R.M. Stumpel, Michel A. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra and Jacques L. Michaud

    Version of Record online : 27 NOV 2014, DOI: 10.1002/humu.22709

  18. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

  19. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Version of Record online : 1 MAY 2014, DOI: 10.1002/humu.22554

  20. You have full text access to this OnlineOpen article
    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 841–850, Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perria, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, Marcella Neri, Alessandra Ferlini, Maria Luigia Cavaliere, Pietro Chiurazzi, Matteo Della Monica, Gioacchino Scarano, Francesca Faravelli, Paola Ferrari, Laura Mazzanti, Alba Pilotta, Maria Grazia Patricelli, Maria Francesca Bedeschi, Francesco Benedicenti, Paolo Prontera, Benedetta Toschi, Leonardo Salviati, Daniela Melis, Eliana Di Battista, Alessandra Vancini, Livia Garavelli, Leopoldo Zelante and Giuseppe Merla

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22547