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There are 6350 results for: content related to: Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

  1. Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 408–416, M Sabatelli, A Conte and M Zollino

    Article first published online : 12 MAR 2013, DOI: 10.1111/cge.12117

  2. The past, present, and future of telemedicine for Parkinson's disease

    Movement Disorders

    Volume 29, Issue 7, June 2014, Pages: 871–883, Meredith Achey, Jason L. Aldred, Noha Aljehani, Bastiaan R. Bloem, Kevin M. Biglan, Piu Chan, Esther Cubo, E. Ray Dorsey, Christopher G. Goetz, Mark Guttman, Anhar Hassan, Suketu M. Khandhar, Zoltan Mari, Meredith Spindler, Caroline M. Tanner, Pieter van den Haak, Richard Walker, Jayne R. Wilkinson and on behalf of the International Parkinson and Movement Disorder Society Telemedicine Task Force

    Article first published online : 17 MAY 2014, DOI: 10.1002/mds.25903

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    ATMOS version 3 water vapor measurements: Comparisons with observations from two ER-2 Lyman-α hygrometers, MkIV, HALOE, SAGE II, MAS, and MLS

    Journal of Geophysical Research: Atmospheres (1984–2012)

    Volume 107, Issue D3, 16 February 2002, Pages: ACH 2-1–ACH 2-19, H. A. Michelsen, G. L. Manney, F. W. Irion, G. C. Toon, M. R. Gunson, C. P. Rinsland, R. Zander, E. Mahieu, M. J. Newchurch, P. N. Purcell, E. E. Remsberg, J. M. Russell III, H. C. Pumphrey, J. W. Waters, R. M. Bevilacqua, K. K. Kelly, E. J. Hintsa, E. M. Weinstock, E.-W. Chiou, W. P. Chu, M. P. McCormick and C. R. Webster

    Article first published online : 9 FEB 2002, DOI: 10.1029/2001JD000587

  4. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

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    Thermophysical properties of the MER and Beagle II landing site regions on Mars

    Journal of Geophysical Research: Planets (1991–2012)

    Volume 111, Issue E8, August 2006, Bruce M. Jakosky, Brian M. Hynek, Shannon M. Pelkey, Michael T. Mellon, Sara Martínez-Alonso, Nathaniel E. Putzig, Nate Murphy and Philip R. Christensen

    Article first published online : 25 AUG 2006, DOI: 10.1029/2004JE002320

  6. Executive Functions in Adult Offspring of Alcohol-Dependent Probands: Toward a Cognitive Endophenotype?

    Alcoholism: Clinical and Experimental Research

    Volume 37, Issue s1, January 2013, Pages: E356–E363, Fabien Gierski, Bérengère Hubsch, Nicolas Stefaniak, Farid Benzerouk, Christine Cuervo-Lombard, Céline Bera-Potelle, Renaud Cohen, Jean-Pierre Kahn and Frédéric Limosin

    Article first published online : 14 DEC 2012, DOI: 10.1111/j.1530-0277.2012.01903.x

  7. Genotype–phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 422–431, SG Mehta, M Khare, R Ramani, GDJ Watts, M Simon, KE Osann, S Donkervoort, E Dec, A Nalbandian, J Platt, M Pasquali, A Wang, T Mozaffar, CD Smith and VE Kimonis

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12000

  8. Three-dimensional microfabrication of protein hydrogels via two-photon-excited thiol-vinyl ester photopolymerization

    Journal of Polymer Science Part A: Polymer Chemistry

    Volume 51, Issue 22, 15 November 2013, Pages: 4799–4810, Xiao-Hua Qin, Jan Torgersen, Robert Saf, Severin Mühleder, Niklas Pucher, S. Clark Ligon, Wolfgang Holnthoner, Heinz Redl, Aleksandr Ovsianikov, Jürgen Stampfl and Robert Liska

    Article first published online : 2 SEP 2013, DOI: 10.1002/pola.26903

  9. MyD88 signalling in myeloid cells is sufficient to prevent chronic mycobacterial infection

    European Journal of Immunology

    Volume 44, Issue 5, May 2014, Pages: 1399–1409, Luciana Berod, Philipp Stüve, Maxine Swallow, Catharina Arnold-Schrauf, Friederike Kruse, Maria V. Gentilini, Jenny Freitag, Bernhard Holzmann and Tim Sparwasser

    Article first published online : 13 FEB 2014, DOI: 10.1002/eji.201344039

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    Resveratrol induces antioxidant defence via transcription factor Yap1p

    Yeast

    Volume 29, Issue 7, July 2012, Pages: 251–263, Xavier Escoté, Merce Miranda, Sandra Menoyo, Boris Rodríguez-Porrata, Didac Carmona-Gutiérrez, Helmut Jungwirth, Frank Madeo, Ricardo R. Cordero, Albert Mas, Francisco Tinahones, Josep Clotet and Joan Vendrell

    Article first published online : 6 JUN 2012, DOI: 10.1002/yea.2903

  11. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

    Clinical Genetics

    M. Ruggieri, A. Polizzi, A. Spalice, V. Salpietro, R. Caltabiano, V. D'Orazi, P. Pavone, C. Pirrone, G. Magro, N. Platania, S. Cavallaro, M. Muglia and F. Nicita

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12498

  12. Toward quantification and source sector identification of fossil fuel CO2 emissions from an urban area: Results from the INFLUX experiment

    Journal of Geophysical Research: Atmospheres

    Volume 120, Issue 1, 16 January 2015, Pages: 292–312, Jocelyn C. Turnbull, Colm Sweeney, Anna Karion, Timothy Newberger, Scott J. Lehman, Pieter P. Tans, Kenneth J. Davis, Thomas Lauvaux, Natasha L. Miles, Scott J. Richardson, Maria Obiminda Cambaliza, Paul B. Shepson, Kevin Gurney, Risa Patarasuk and Igor Razlivanov

    Article first published online : 12 JAN 2015, DOI: 10.1002/2014JD022555

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    GTP hydrolysis by arf-1 mediates sorting and concentration of Golgi resident enzymes into functional COP I vesicles

    The EMBO Journal

    Volume 18, Issue 18, September 15, 1999, Pages: 4935–4948, Joel Lanoix, Joke Ouwendijk, Chung-Chih Lin, Annika Stark, Harold D. Love, Joachim Ostermann and Tommy Nilsson

    Article first published online : 15 SEP 1999, DOI: 10.1093/emboj/18.18.4935

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    Implementation and application of adaptive mesh refinement for thermochemical mantle convection studies

    Geochemistry, Geophysics, Geosystems

    Volume 12, Issue 4, April 2011, Wei Leng and Shijie Zhong

    Article first published online : 15 APR 2011, DOI: 10.1029/2010GC003425

  15. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

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    Late Miocene high and rapid surface uplift and its erosional response in the Andes of central Chile (33°–35°S)

    Tectonics

    Volume 27, Issue 1, February 2008, Marcelo Farías, Reynaldo Charrier, Sébastien Carretier, Joseph Martinod, Andrés Fock, David Campbell, Joaquín Cáceres and Diana Comte

    Article first published online : 17 JAN 2008, DOI: 10.1029/2006TC002046

  17. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 260–266, P. Mur, M. Pineda, A. Romero, J. del Valle, E. Borràs, A. Canal, M. Navarro, J. Brunet, D. Rueda, T. Ramón y Cajal, C. Lázaro, T. Caldés, I. Blanco, J.L. Soto and G. Capellá

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12152

  18. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  19. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

  20. Resveratrol inhibits NLRP3 inflammasome activation by preserving mitochondrial integrity and augmenting autophagy

    Journal of Cellular Physiology

    Volume 230, Issue 7, July 2015, Pages: 1567–1579, Ya-Ping Chang, Shuk-Man Ka, Wan-Han Hsu, Ann Chen, Louis Kuoping Chao, Chai-Ching Lin, Cho-Chen Hsieh, Ming-Cheng Chen, Huan-Wen Chiu, Chen-Lung Ho, Yi-Chich Chiu, May-Lan Liu and Kuo-Feng Hua

    Article first published online : 27 MAR 2015, DOI: 10.1002/jcp.24903