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There are 37513 results for: content related to: Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

  1. Zebrafish cnbp intron1 plays a fundamental role in controlling spatiotemporal gene expression during embryonic development

    Journal of Cellular Biochemistry

    Volume 108, Issue 6, 15 December 2009, Pages: 1364–1375, Andrea M.J. Weiner, Miguel L. Allende and Nora B. Calcaterra

    Version of Record online : 14 OCT 2009, DOI: 10.1002/jcb.22369

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    Induction of autophagy with catalytic mTOR inhibitors reduces huntingtin aggregates in a neuronal cell model

    Journal of Neurochemistry

    Volume 119, Issue 2, October 2011, Pages: 398–407, Ana Roscic, Barbara Baldo, Christophe Crochemore, David Marcellin and Paolo Paganetti

    Version of Record online : 20 SEP 2011, DOI: 10.1111/j.1471-4159.2011.07435.x

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    Dynamic recruitment of active proteasomes into polyglutamine initiated inclusion bodies

    FEBS Letters

    Volume 588, Issue 1, January 03, 2014, Pages: 151–159, Sabine Schipper-Krom, Katrin Juenemann, Anne H. Jansen, Anne Wiemhoefer, Rianne van den Nieuwendijk, Donna L. Smith, Mark A. Hink, Gillian P. Bates, Hermen Overkleeft, Huib Ovaa and Eric Reits

    Version of Record online : 26 NOV 2013, DOI: 10.1016/j.febslet.2013.11.023

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    Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1

    Journal of Neurochemistry

    Volume 107, Issue 1, October 2008, Pages: 253–264, Florence Dequen, Pascale Bomont, Geneviève Gowing, Don W. Cleveland and Jean-Pierre Julien

    Version of Record online : 31 JUL 2008, DOI: 10.1111/j.1471-4159.2008.05601.x

  5. 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

  6. Decreased expression of WWOX in the development of esophageal squamous cell carcinoma

    Molecular Carcinogenesis

    Volume 52, Issue 4, April 2013, Pages: 265–274, Wei Guo, Guiying Wang, Yuran Dong, Yanli Guo, Gang Kuang and Zhiming Dong

    Version of Record online : 27 DEC 2011, DOI: 10.1002/mc.21853

  7. You have full text access to this OnlineOpen article
    Promoter-like sequences regulating transcriptional activity in neurexin and neuroligin genes

    Journal of Neurochemistry

    Volume 127, Issue 1, October 2013, Pages: 36–47, Fabian Runkel, Astrid Rohlmann, Carsten Reissner, Stefan-Martin Brand and Markus Missler

    Version of Record online : 20 AUG 2013, DOI: 10.1111/jnc.12372

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    Enhanced chloroplast transgene expression in a nuclear mutant of Chlamydomonas

    Plant Biotechnology Journal

    Volume 9, Issue 5, June 2011, Pages: 565–574, Laure Michelet, Linnka Lefebvre-Legendre, Sarah E. Burr, Jean-David Rochaix and Michel Goldschmidt-Clermont

    Version of Record online : 31 AUG 2010, DOI: 10.1111/j.1467-7652.2010.00564.x

  9. Different roles for p16INK4a-Rb pathway and INK4a/ARF methylation between adenocarcinomas of gastric cardia and distal stomach

    Journal of Gastroenterology and Hepatology

    Volume 29, Issue 7, July 2014, Pages: 1418–1426, Liying Xue, Qin Ouyang, Jie Li, Xinxing Meng, Yuehong Li, Lingxiao Xing, Junling Wang, Xia Yan and Xianghong Zhang

    Version of Record online : 15 JUL 2014, DOI: 10.1111/jgh.12547

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    Neuroprotective Effects of Calmodulin Peptide 76-121aa: Disruption of Calmodulin Binding to Mutant Huntingtin

    Brain Pathology

    Volume 20, Issue 1, January 2010, Pages: 176–189, Nichole L. Dudek, Ying Dai and Nancy A. Muma

    Version of Record online : 11 MAR 2009, DOI: 10.1111/j.1750-3639.2008.00258.x

  11. Complete mutation analysis panel of the 39 human HOX genes

    Teratology

    Volume 65, Issue 2, February 2002, Pages: 50–62, Kenjiro Kosaki, Rika Kosaki, Taichi Suzuki, Hiroshi Yoshihashi, Takao Takahashi, Katsumi Sasaki, Masaru Tomita, William McGinnis and Nobutake Matsuo

    Version of Record online : 30 JAN 2002, DOI: 10.1002/tera.10009

  12. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 154–158, C. Bettencourt, J.L. López-Sendón, J. García-Caldentey, P. Rizzu, I.M.C. Bakker, O. Shomroni, B. Quintáns, J.R. Dávila, M.R. Bevova, M.-J. Sobrido, P. Heutink and J.G. de Yébenes

    Version of Record online : 25 MAR 2013, DOI: 10.1111/cge.12133

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    Altered cholesterol homeostasis contributes to enhanced excitotoxicity in Huntington’s disease

    Journal of Neurochemistry

    Volume 115, Issue 1, October 2010, Pages: 153–167, Daniel Del Toro, Xavier Xifró, Albert Pol, Sandrine Humbert, Frédéric Saudou, Josep M. Canals and Jordi Alberch

    Version of Record online : 16 JUL 2010, DOI: 10.1111/j.1471-4159.2010.06912.x

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    Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1315–1323, Conceição Bettencourt, Beatriz Quintáns, Raquel Ros, Israel Ampuero, Zuleima Yáñez, Samuel Ignacio Pascual, Justo García de Yébenes and María-Jesús Sobrido

    Version of Record online : 16 JUL 2012, DOI: 10.1002/humu.22148

  15. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5

    European Journal of Neurology

    Volume 22, Issue 1, January 2015, Pages: 211–214, M.-Y. Lan, T.-H. Yeh, Y.-Y. Chang, H.-C. Kuo, H. S. Sun, S.-C. Lai and C.-S. Lu

    Version of Record online : 18 MAR 2014, DOI: 10.1111/ene.12407

  16. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giuseppe Novelli and Gianmarco Contino

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

  17. Characterization of the Tomato Prosystemin Promoter: Organ-specific Expression, Hormone Specificity and Methyl Jasmonate Responsiveness by Deletion Analysis in Transgenic Tobacco Plants

    Journal of Integrative Plant Biology

    Volume 54, Issue 1, January 2012, Pages: 15–32, Hamlet Avilés-Arnaut and John Paul Délano-Frier

    Version of Record online : 11 JAN 2012, DOI: 10.1111/j.1744-7909.2011.01084.x

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    The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting

    Genes to Cells

    Volume 6, Issue 11, November 2001, Pages: 967–975, Alon Y. Hershko, Yael Finberg, Boris Kantor, Ruth Shemer and Aharon Razin

    Version of Record online : 12 JAN 2002, DOI: 10.1046/j.1365-2443.2001.00474.x

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    Decreased BMD and Limb Deformities in Mice Carrying Mutations in Both Lrp5 and Lrp6

    Journal of Bone and Mineral Research

    Volume 19, Issue 12, December 2004, Pages: 2033–2040, Sheri L Holmen, Troy A Giambernardi, Cassandra R Zylstra, Bree D Buckner-Berghuis, James H Resau, J Fred Hess, Vaida Glatt, Mary L Bouxsein, Minrong Ai, Matthew L Warman and Bart O Williams

    Version of Record online : 13 SEP 2004, DOI: 10.1359/jbmr.040907

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    Localization of VEGF-B in the mouse embryo suggests a paracrine role of the growth factor in the developing vasculature

    Developmental Dynamics

    Volume 215, Issue 1, May 1999, Pages: 12–25, Karin Aase, Athina Lymboussaki, Arja Kaipainen, Birgitta Olofsson, Kari Alitalo and Ulf Eriksson

    Version of Record online : 21 SEP 1999, DOI: 10.1002/(SICI)1097-0177(199905)215:1<12::AID-DVDY3>3.0.CO;2-N