Search Results

There are 7322146 results for: content related to: Motor neuron disease in a patient with a mitochondrial tRNA Ile mutation

  1. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 981–988, Andrea Klein, Suzanne Lillis, Iulia Munteanu, Mariacristina Scoto, Haiyan Zhou, Ros Quinlivan, Volker Straub, Adnan Y. Manzur, Helen Roper, Pierre-Yves Jeannet, Wojtek Rakowicz, David Hilton Jones, Uffe Birk Jensen, Elizabeth Wraige, Natalie Trump, Ulrike Schara, Hanns Lochmuller, Anna Sarkozy, Helen Kingston, Fiona Norwood, Maxwell Damian, Janbernd Kirschner, Cheryl Longman, Mark Roberts, Michaela Auer-Grumbach, Imelda Hughes, Kate Bushby, Caroline Sewry, Stephanie Robb, Stephen Abbs, Heinz Jungbluth and Francesco Muntoni

    Version of Record online : 4 APR 2012, DOI: 10.1002/humu.22056

    Corrected by:

    Erratum: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

    Vol. 33, Issue 8, 1310, Version of Record online: 13 JUL 2012

  2. 11q13 is a susceptibility locus for hormone receptor positive breast cancer

    Human Mutation

    Volume 33, Issue 7, July 2012, Pages: 1123–1132, Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K. Humphreys, Jean Wang, John L. Hopper, Gillian S. Dite, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias Pérez, Javier Benítez, Ute Hamann, Yon-Dschun Ko, Thomas Brüning, The GENICA Network, Jenny Chang-Claude, Ursel Eilber, Rebecca Hein, Stefan Nickels, Dieter Flesch-Janys, Shan Wang-Gohrke, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Georgia Chenevix-Trench, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, Australian Ovarian Cancer Study Group, Florence Menegaux, Emilie Cordina-Duverger, Chen-Yang Shen, Jyh-Cherng Yu, Pei-Ei Wu, Ming-Feng Hou, Irene L. Andrulis, Teresa Selander, Gord Glendon, Anna Marie Mulligan, Hoda Anton-Culver, Argyrios Ziogas, Kenneth R. Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Michael Jones, Nicholas Orr, Alan Ashworth, Anthony Swerdlow, Gianluca Severi, Laura Baglietto, Graham Giles, Melissa Southey, Federik Marmé, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Betul T. Yesilyurt, Patrick Neven, Robert Paridaens, Hans Wildiers, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Sarah Schott, Claus R. Bartram, Rita K. Schmutzler, Angela Cox, Ian W. Brock, Graeme Elliott, Simon S. Cross, Peter A. Fasching, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia V. Bogdanova, Natalia N. Antonenkova, Yuri I. Rogov, Johann H. Karstens, Elza Khusnutdinova, Marina Bermisheva, Darya Prokofieva, Shamil Gancev, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Børge G. Nordestgaard, Stig E. Bojesen, Charlotte Lanng, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Grethe Grenaker Alnæs, Vessela Kristensen, Anne-Lise Børresen-Dale, Peter Devilee, Robert A.E.M. Tollenaar, Caroline M. Seynaeve, Maartje J. Hooning, Montserrat García-Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Jianjun Liu, Kamila Czene, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Annika Lindblom, Sara Margolin, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton, Pascal Guénel and Hiltrud Brauch

    Version of Record online : 30 APR 2012, DOI: 10.1002/humu.22089

  3. You have full text access to this OnlineOpen article
    ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies

    Human Mutation

    Volume 32, Issue 9, September 2011, Pages: 1008–1018, Tamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, Rebecca Hardy, Cyrus Cooper, Ian J. Deary, David Gunnell, Sarah E. Harris, Meena Kumari, Richard M. Martin, Colin N. Moran, Yannis P. Pitsiladis, Susan M. Ring, Avan Aihie Sayer, George Davey Smith, John M. Starr, Diana Kuh, Ian N.M. Day and and the HALCyon study team

    Version of Record online : 20 JUL 2011, DOI: 10.1002/humu.21526

  4. You have free access to this content
    Excess liver-related morbidity of chronic hepatitis C patients, who achieve a sustained viral response, and are discharged from care

    Hepatology

    Volume 54, Issue 5, November 2011, Pages: 1547–1558, Hamish A. Innes, Sharon J. Hutchinson, Samuel Allen, Diptendu Bhattacharyya, Peter Bramley, Toby E.S. Delahooke, John F. Dillon, Ewan Forrest, Andrew Fraser, Ruth Gillespie, David J. Goldberg, Nicholas Kennedy, Scott McDonald, Allan McLeod, Peter R. Mills, Judith Morris, Peter Hayes and on behalf of the Hepatitis C Clinical Database Monitoring Committee.

    Version of Record online : 28 OCT 2011, DOI: 10.1002/hep.24561

  5. Normal dopamine transporter single photon-emission CT scan in corticobasal degeneration

    Movement Disorders

    Volume 23, Issue 16, 15 December 2008, Pages: 2424–2426, Sean S. O'Sullivan, David J. Burn, Janice L. Holton and Andrew J. Lees

    Version of Record online : 29 SEP 2008, DOI: 10.1002/mds.22323

  6. You have free access to this content
    Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

    Human Mutation

    Volume 33, Issue 8, August 2012, Page: 1310, Andrea Klein, Suzanne Lillis, Iulia Munteanu, Mariacristina Scoto, Haiyan Zhou, Ros Quinlivan, Volker Straub, Adnan Y. Manzur, Helen Roper, Pierre-Yves Jeannet, Wojtek Rakowicz, David Hilton Jones, Uffe Birk Jensen, Elizabeth Wraige, Natalie Trump, Ulrike Schara, Hanns Lochmuller, Anna Sarkozy, Helen Kingston, Fiona Norwood, Maxwell Damian, Janbernd Kirschner, Cheryl Longman, Mark Roberts, Michaela Auer-Grumbach, Imelda Hughes, Kate Bushby, Caroline Sewry, Stephanie Robb, Stephen Abbs, Heinz Jungbluth and Francesco Muntoni

    Version of Record online : 13 JUL 2012, DOI: 10.1002/humu.22136

    This article corrects:
  7. From Legion to Avaki: The Persistence of Vision

    Grid Computing: Making the Global Infrastructure a Reality

    Andrew S. Grimshaw, Anand Natrajan, Marty A. Humphrey, Michael J. Lewis, Anh Nguyen-Tuong, John F. Karpovich, Mark M. Morgan, Adam J. Ferrari, Pages: 265–298, 2003

    Published Online : 30 MAY 2003, DOI: 10.1002/0470867167.ch10

  8. Lessons from the 2006 Louisiana Health and Population Survey

    Disasters

    Volume 36, Issue 2, April 2012, Pages: 270–290, Gregory S. Stone, Alden K. Henderson, Stephanie I. Davis, Michael Lewin, Iris Shimizu, Ramesh Krishnamurthy, Kris Bisgard, Robin Lee, Aisha Jumaan, Erin Marziale, Miranda Bryant, Clayton Williams, Karen Mason, Maria Sirois, Makiko Hori, Jonathan Chapman and David J. Bowman

    Version of Record online : 13 OCT 2011, DOI: 10.1111/j.1467-7717.2011.01254.x

  9. Shunt responsive progressive supranuclear palsy?

    Movement Disorders

    Volume 22, Issue 6, 30 April 2007, Pages: 902–903, Jonathan M. Schott, David R. Williams, Richard J. Butterworth, John C. Janssen, Andrew J. Larner, Janice L. Holton and Martin N. Rossor

    Version of Record online : 13 MAR 2007, DOI: 10.1002/mds.21404

  10. You have free access to this content
    Planning the Human Variome Project: The Spain report

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 496–510, Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein, Jong Bhak, Stacey L. Bleoo, Helmut Blöcker, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon-Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun-Jun Chung, Mireille Claustres, Garry Cutting, Raymond Dalgleish, Johan T. den Dunnen, Carlos Díaz, Steven Dobrowolski, M. Rosário N. dos Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, Maria V. Golubenko, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross Hardison, Terence M. Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong-Young Lee, Vera L. Gil-da-Silva-Lopes, Finlay A. Macrae, Donna Maglott, Makia J. Marafie, Steven G.E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa L. Norton, Peter J. Oefner, William S. Oetting, James C. O'Leary, Ana Maria Oller de Ramirez, Mark H. Paalman, Jillian Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian R. Phillips, Sue Povey, Suyash Prasad, Ming Qi, David J. Quin, Rajkumar S. Ramesar, C. Sue Richards, Judith Savige, Dagmar G. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Timothy D. Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon Teague, Thoralf Töpel, Mollie Ullman-Cullere, Joji Utsunomiya, Henk J. van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young I. Yeom, Seon-Hee Yim and Hyang-Sook Yoo

    Version of Record online : 20 JAN 2009, DOI: 10.1002/humu.20972

  11. You have full text access to this OnlineOpen article
    Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

    Movement Disorders

    Volume 27, Issue 14, December 2012, Pages: 1829–1830, Maja Kojovic, Una-Marie Sheerin, Ignacio Rubio-Agusti, Anirban Saha, Jose Bras, Vaneesha Gibbons, Rodger Palmer, Henry Houlden, John Hardy, Nicholas W. Wood and Kailash P. Bhatia

    Version of Record online : 2 JAN 2013, DOI: 10.1002/mds.25199

  12. Reversible “applause sign” secondary to diffuse large B cell lymphoma

    Movement Disorders

    Volume 23, Issue 16, 15 December 2008, Pages: 2426–2428, David A. Gallagher, Jonathan M. Schott, Anna Childerhouse, Thomas Wilhelm, Andrew N. Gale and Anette Schrag

    Version of Record online : 14 OCT 2008, DOI: 10.1002/mds.22311

  13. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 3, 30 July 2004, Pages: 285–293, Theresa Marteau, Victoria Senior, Steve E. Humphries, Martin Bobrow, Treena Cranston, Martin A. Crook, Lorna Day, Maryam Fernandez, Rob Horne, Andrew Iversen, Zoe Jackson, Jacqui Lynas, Helen Middleton-Price, Richard Savine, Jim Sikorski, Melanie Watson, John Weinman, Anthony S. Wierzbicki and Richard Wray

    Version of Record online : 20 MAY 2004, DOI: 10.1002/ajmg.a.30102

  14. Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

    Human Mutation

    Volume 31, Issue 1, January 2010, Pages: 41–51, Christopher J. Ricketts, Julia R. Forman, Eleanor Rattenberry, Nicola Bradshaw, Fiona Lalloo, Louise Izatt, Trevor R. Cole, Ruth Armstrong, V.K. Ajith Kumar, Patrick J. Morrison, A. Brew Atkinson, Fiona Douglas, Steve G. Ball, Jackie Cook, Umasuthan Srirangalingam, Pip Killick, Gail Kirby, Simon Aylwin, Emma R. Woodward, D. Gareth R. Evans, Shirley V. Hodgson, Vicky Murday, Shern L. Chew, John M. Connell, Tom L. Blundell, Fiona MacDonald and Eamonn R. Maher

    Version of Record online : 2 OCT 2009, DOI: 10.1002/humu.21136

  15. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 690–702, Susan J. Ramus, Antonis C. Antoniou, Karoline B. Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen, Anne-Marie Gerdes, Torben A. Kruse, Uffe Birk Jensen, Anne-Bine Skytte, Maria A. Caligo, Annelie Liljegren, Annika Lindblom, Håkan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, SWE-BRCA, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Ana Osorio, Javier Benitez, Mercedes Duran, Maria-Isabel Tejada, Ute Hamann, Matti Rookus, Flora E. van Leeuwen, Cora M. Aalfs, Hanne E.J. Meijers-Heijboer, Christi J. van Asperen, K.E.P. van Roozendaal, Nicoline Hoogerbrugge, J. Margriet Collée, Mieke Kriege, Rob B. van der Luijt, HEBON, EMBRACE, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Fiona Lalloo, Chris Jacobs, Ros Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Lisa Walker, Mary E. Porteous, M. John Kennedy, Harsh Pathak, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Virginie Caux-Moncoutier, Antoine de Pauw, Marion Gauthier-Villars, Sylvie Mazoyer, Mélanie Léoné, Alain Calender, Christine Lasset, Valérie Bonadona, Agnès Hardouin, Pascaline Berthet, Yves-Jean Bignon, Nancy Uhrhammer, Laurence Faivre, Catherine Loustalot, GEMO, Saundra Buys, Mary Daly, Alex Miron, Mary Beth Terry, Wendy K. Chung, Esther M John, Melissa Southey, David Goldgar, Christian F. Singer, Muy-Kheng Tea, Georg Pfeiler, Anneliese Fink-Retter, Thomas v. O. Hansen, Bent Ejlertsen, Oskar Th. Johannsson, Kenneth Offit, Tomas Kirchhoff, Mia M. Gaudet, Joseph Vijai, Mark Robson, Marion Piedmonte, Kelly-Anne Phillips, Linda Van Le, James S Hoffman, Amanda Ewart Toland, Marco Montagna, Silvia Tognazzo, Evgeny Imyanitov, Claudine Isaacs, Ramunas Janavicius, Conxi Lazaro, Ignacio Blanco, Eva Tornero, Matilde Navarro, Kirsten B. Moysich, Beth Y. Karlan, Jenny Gross, Edith Olah, Tibor Vaszko, Soo-Hwang Teo, Patricia A. Ganz, Mary S. Beattie, Cecelia M Dorfling, Elizabeth J. van Rensburg, Orland Diez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorotehea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Dieter Schäfer, Trinidad Caldes, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Marie Plante, Amanda B. Spurdle, kConFab, Susan L. Neuhausen, Yuan Chun Ding, Xianshu Wang, Noralane Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Bernardo Bonanni, Loris Bernard, Riccardo Dolcetti, Laura Papi, Laura Ottini, Paolo Radice, Mark H. Greene, Phuong L. Mai, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, OCGN, Paul D.P. Pharoah, Simon A. Gayther, Jacques Simard, Douglas F. Easton, Fergus J. Couch, Georgia Chenevix-Trench and on behalf of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Version of Record online : 14 FEB 2012, DOI: 10.1002/humu.22025

  16. Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor–Ataxia syndrome

    Movement Disorders

    Volume 24, Issue 8, 15 June 2009, Pages: 1245–1247, Daniel G. Healy, Susan Bressman, John Dickson, Laura Silveira-Moriyama, Susanne A. Schneider, Sean S.O. Sullivan, Luke Massey, Kailash P. Bhatia, Karen Shaw, Kailash P. Bhatia, Jamshed Bomanji, Nicholas W. Wood and Andrew J. Lees

    Version of Record online : 3 MAR 2009, DOI: 10.1002/mds.22267

  17. You have free access to this content
    OP01.12: Maternal age-specific detection rates and false-positive rates for first- and second-trimester screening for Down syndrome

    Ultrasound in Obstetrics & Gynecology

    Volume 28, Issue 4, September 2006, Page: 415, G. R. DeVore, F. D. Malone, R. H. Ball, D. A. Nyberg, C. H. Comstock, G. R. Saade, R. L. Berkowitz, S. J. Gross, L. Dugoff, S. D. Craigo, I. E. Timor-Tritsch, S. R. Carr, H. M. Wolfe and M. E. D'Alton

    Version of Record online : 31 AUG 2006, DOI: 10.1002/uog.3048

  18. Clinical grand round: A rapidly progressive pyramidal and extrapyramidal syndrome with a supranuclear gaze palsy

    Movement Disorders

    Volume 20, Issue 7, July 2005, Pages: 826–831, H.R. Morris, Adolfo M. Bronstein, Christopher E. Shaw, Andrew J. Lees and S. Love

    Version of Record online : 3 MAR 2005, DOI: 10.1002/mds.20411

  19. Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

    Movement Disorders

    Volume 27, Issue 12, October 2012, Pages: 1522–1529, Laura L. Kilarski, Justin P. Pearson, Victoria Newsway, Elisa Majounie, M. Duleeka W. Knipe, Anjum Misbahuddin, Patrick F. Chinnery, David J. Burn, Carl E. Clarke, Marie-Helene Marion, Alistair J. Lewthwaite, David J. Nicholl, Nicholas W. Wood, Karen E. Morrison, Caroline H. Williams-Gray, Jonathan R. Evans, Stephen J. Sawcer, Roger A. Barker, Mirdhu M. Wickremaratchi, Yoav Ben-Shlomo, Nigel M. Williams and Huw R. Morris

    Version of Record online : 6 SEP 2012, DOI: 10.1002/mds.25132

  20. Caregiving and coping in carers of people with anorexia nervosa admitted for intensive hospital care

    International Journal of Eating Disorders

    Volume 46, Issue 4, May 2013, Pages: 346–354, Simone Raenker, Rebecca Hibbs, Elizabeth Goddard, Ulrike Naumann, Jon Arcelus, Agnes Ayton, Bryony Bamford, Nicky Boughton, Frances Connan, Ken Goss, Bert Lazlo, John Morgan, Kim Moore, David Robertson, Christa Schreiber-Kounine, Sonu Sharma, Linette Whitehead, Jennifer Beecham, Ulrike Schmidt and Janet Treasure

    Version of Record online : 25 OCT 2012, DOI: 10.1002/eat.22068