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There are 23258 results for: content related to: C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia

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    10th International Conference on Frontotemporal Dementias Munich/Germany; August 31-September 2, 2016

    Journal of Neurochemistry

    Volume 138, Issue S1, August 2016, Pages: 222–428,

    Version of Record online : 18 JUL 2016, DOI: 10.1111/jnc.13692

  2. You have full text access to this OnlineOpen article
    C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

    Annals of Neurology

    Volume 78, Issue 3, September 2015, Pages: 426–438, Max Koppers, Anna M. Blokhuis, Henk-Jan Westeneng, Margo L. Terpstra, Caroline A. C. Zundel, Renata Vieira de Sá, Raymond D. Schellevis, Adrian J. Waite, Derek J. Blake, Jan H. Veldink, Leonard H. van den Berg and R. Jeroen Pasterkamp

    Version of Record online : 3 JUL 2015, DOI: 10.1002/ana.24453

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    Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

    Annals of Neurology

    Volume 78, Issue 4, October 2015, Pages: 568–583, Shangxi Xiao, Laura MacNair, Philip McGoldrick, Paul M. McKeever, Jesse R. McLean, Ming Zhang, Julia Keith, Lorne Zinman, Ekaterina Rogaeva and Janice Robertson

    Version of Record online : 29 AUG 2015, DOI: 10.1002/ana.24469

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    Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art

    Neuropathology and Applied Neurobiology

    Volume 41, Issue 2, February 2015, Pages: 109–134, Matthew J. Walsh, Johnathan Cooper-Knock, Jennifer E. Dodd, Matthew J. Stopford, Simeon R. Mihaylov, Janine Kirby, Pamela J. Shaw and Guillaume M. Hautbergue

    Version of Record online : 29 JAN 2015, DOI: 10.1111/nan.12187

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    The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

    The EMBO Journal

    Volume 35, Issue 15, 01 August 2016, Pages: 1656–1676, Christopher P Webster, Emma F Smith, Claudia S Bauer, Annekathrin Moller, Guillaume M Hautbergue, Laura Ferraiuolo, Monika A Myszczynska, Adrian Higginbottom, Matthew J Walsh, Alexander J Whitworth, Brian K Kaspar, Kathrin Meyer, Pamela J Shaw, Andrew J Grierson and Kurt J De Vos

    Version of Record online : 22 JUN 2016, DOI: 10.15252/embj.201694401

  6. Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation

    Neuropathology

    Volume 33, Issue 2, April 2013, Pages: 122–133, Eileen H. Bigio, Sandra Weintraub, Rosa Rademakers, Matt Baker, Saman S. Ahmadian, Alfred Rademaker, Bing Bing Weitner, Qinwen Mao, Kyung-Hwa Lee, Manjari Mishra, Rakhee A. Ganti and M-Marsel Mesulam

    Version of Record online : 18 JUN 2012, DOI: 10.1111/j.1440-1789.2012.01332.x

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    A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 363–373, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Raquel Sanchez-Valle, Albert Llado, Ellen Gelpi, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matej, Eva Parobkova, Gabor G. Kovacs, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Patrick Santens, Jean-Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, Clara Firmo, José Pimentel, Raquel Sanchez-Valle, Albert Llado, Anna Antonell, Jose Molinuevo , Ellen Gelpi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Caroline Graff, Anne Kinhult Ståhlbom, Håkan Thonberg, Inger Nennesmo, Anne Börjesson-Hanson, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Valentina Bessi, Irene Piaceri, Isabel Santana, Beatriz Santiago, Isabel Santana, Maria Helena Ribeiro, Maria Rosário Almeida, Catarina Oliveira, João Massano, Carolina Garret, Paula Pires, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Ivailo Tournev, Gabor G. Kovacs, Thomas Ströbel, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer;, Frank Jessen, Radoslav Matej, Eva Parobkova, Adrian Danel, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Eric Salmon, Patrick Santens, Patrick Cras and on behalf of the European Early-Onset Dementia (EOD) Consortium

    Version of Record online : 4 JAN 2013, DOI: 10.1002/humu.22244

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    A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

    Neuropathology and Applied Neurobiology

    Volume 40, Issue 4, June 2014, Pages: 502–513, Tammaryn Lashley, Jonathan D. Rohrer, Colin Mahoney, Elizabeth Gordon, Jon Beck, Simon Mead, Jason Warren, Martin Rossor and Tamas Revesz

    Version of Record online : 22 APR 2014, DOI: 10.1111/nan.12100

    Corrected by:

    Corrigendum: Corrigendum

    Vol. 40, Issue 7, 955, Version of Record online: 17 NOV 2014

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    C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

    Annals of Human Genetics

    Volume 77, Issue 5, September 2013, Pages: 351–363, Karen Nuytemans, Güney Bademci, Martin M. Kohli, Gary W. Beecham, Liyong Wang, Juan I. Young, Fatta Nahab, Eden R. Martin, John R. Gilbert, Michael Benatar, Jonathan L. Haines, William K. Scott, Stephan Züchner, Margaret A. Pericak-Vance and Jeffery M. Vance

    Version of Record online : 12 JUL 2013, DOI: 10.1111/ahg.12033

  10. Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation

    Journal of Anatomy

    Volume 229, Issue 6, December 2016, Pages: 871–891, Ross Ferguson, Eleni Serafeimidou-Pouliou and Vasanta Subramanian

    Version of Record online : 1 AUG 2016, DOI: 10.1111/joa.12526

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    Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

    The EMBO Journal

    Volume 35, Issue 12, 15 June 2016, Pages: 1276–1297, Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi and Nicolas Charlet-Berguerand

    Version of Record online : 21 APR 2016, DOI: 10.15252/embj.201593350

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    G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

    FEBS Letters

    Volume 589, Issue 14, June 22, 2015, Pages: 1653–1668, Roberto Simone, Pietro Fratta, Stephen Neidle, Gary N. Parkinson and Adrian M. Isaacs

    Version of Record online : 13 MAY 2015, DOI: 10.1016/j.febslet.2015.05.003

  13. Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 79–82, Alberto García-Redondo, Oriol Dols-Icardo, Ricard Rojas-García, Jesús Esteban-Pérez, Pilar Cordero-Vázquez, José Luis Muñoz-Blanco, Irene Catalina, Miguel González-Muñoz, Luis Varona, Esther Sarasola, Monica Povedano, Teresa Sevilla, Antonio Guerrero, Julio Pardo, Adolfo López de Munain, Celedonio Márquez-Infante, Francisco Javier Rodríguez de Rivera, Pau Pastor, Ivonne Jericó, Amaya Álvarez de Arcaya, Jesús S. Mora, Jordi Clarimón, The C9ORF72 Spanish Study Group, Juan Francisco Gonzalo-Martínez, Alexandra Juárez-Rufián, Gabriela Atencia, Rosario Jiménez-Bautista, Yolanda Morán, Javier Mascías, María Hernández-Barral, Solange Kapetanovic, María García-Barcina, Carmen Alcalá, Álvaro Vela, Concepción Ramírez-Ramos, Lucía Galán, Jordi Pérez-Tur, Beatriz Quintáns, M Jesús Sobrido, Roberto Fernández-Torrón, Juan José Poza, Ana Gorostidi, Carmen Paradas, Pablo Villoslada, Pilar Larrodé, José Luis Capablo, Jordi Pascual-Calvet, Miguel Goñi, Yolanda Morgado, Miriam Guitart, Sira Moreno-Laguna, Almudena Rueda, Carlos Martín-Estefanía, Carlos Cemillán, Rafael Blesa and Alberto Lleó

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22211

  14. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images

    European Journal of Neurology

    Volume 22, Issue 5, May 2015, Pages: 745–752, J. L. Whitwell, B. F. Boeve, S. D. Weigand, M. L. Senjem, J. L. Gunter, M. C. Baker, M. DeJesus-Hernandez, D. S. Knopman, Z. K. Wszolek, R. C. Petersen, R. Rademakers, C. R. Jack Jr and K. A. Josephs

    Version of Record online : 12 FEB 2015, DOI: 10.1111/ene.12675

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    Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

    Neuropathology and Applied Neurobiology

    Volume 41, Issue 7, December 2015, Pages: 858–881, Tammaryn Lashley, Jonathan D. Rohrer, Simon Mead and Tamas Revesz

    Version of Record online : 6 JUL 2015, DOI: 10.1111/nan.12250

  16. No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease

    Neuropathology and Applied Neurobiology

    Volume 40, Issue 7, December 2014, Pages: 844–854, Andrew C. Robinson, Jennifer C. Thompson, Lindsey Weedon, Sara Rollinson, Stuart Pickering-Brown, Julie S. Snowden, Yvonne S. Davidson and David M. A. Mann

    Version of Record online : 17 NOV 2014, DOI: 10.1111/nan.12155

  17. Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case–control cohort study of familial and sporadic amyotrophic lateral sclerosis

    Annals of Neurology

    Volume 74, Issue 5, November 2013, Pages: 699–708, Susan Byrne, Mark Heverin, Marwa Elamin, Peter Bede, Catherine Lynch, Kevin Kenna, Russell MacLaughlin, Cathal Walsh, Ammar Al Chalabi and Orla Hardiman

    Version of Record online : 10 SEP 2013, DOI: 10.1002/ana.23969

  18. Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

    Muscle & Nerve

    Volume 49, Issue 6, June 2014, Pages: 786–803, Xiaowei W. Su, James R. Broach, James R. Connor, Glenn S. Gerhard and Zachary Simmons

    Version of Record online : 8 APR 2014, DOI: 10.1002/mus.24198

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    C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

    Traffic

    Volume 18, Issue 5, May 2017, Pages: 267–276, Joseph Amick and Shawn M. Ferguson

    Version of Record online : 23 MAR 2017, DOI: 10.1111/tra.12477

  20. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

    Annals of Neurology

    Volume 74, Issue 2, August 2013, Pages: 180–187, Sorana Ciura, Serena Lattante, Isabelle Le Ber, Morwena Latouche, Hervé Tostivint, Alexis Brice and Edor Kabashi

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ana.23946