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There are 1713 results for: content related to: A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy

  1. 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

  2. Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases

    Movement Disorders

    Volume 30, Issue 12, October 2015, Pages: 1610–1619, Xinlu Li and Kalle Gehring

    Version of Record online : 11 SEP 2015, DOI: 10.1002/mds.26357

  3. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

    Annals of Neurology

    Volume 78, Issue 6, December 2015, Pages: 871–886, Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, Sylvie Forlani, Fanny Mochel, Karine N'Guyen, Christel Thauvin-Robinet, Christophe Verny, Dan Milea, Gaëtan Lesca, Michel Koenig, Diana Rodriguez, Nada Houcinat, Julien Van-Gils, Christelle M. Durand, Agnès Guichet, Magalie Barth, Dominique Bonneau, Philippe Convers, Elisabeth Maillart, Lucie Guyant-Marechal, Didier Hannequin, Guillaume Fromager, Alexandra Afenjar, Sandra Chantot-Bastaraud, Stéphanie Valence, Perrine Charles, Patrick Berquin, Caroline Rooryck, Julie Bouron, Alexis Brice, Didier Lacombe, Rodrigue Rossignol, Giovanni Stevanin, Giovanni Benard, Lydie Burglen, Alexandra Durr, Cyril Goizet and Isabelle Coupry

    Version of Record online : 14 NOV 2015, DOI: 10.1002/ana.24509

  4. Autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Neuropathology

    Volume 26, Issue 4, August 2006, Pages: 368–375, Yoshihisa Takiyama

    Version of Record online : 20 JUL 2006, DOI: 10.1111/j.1440-1789.2006.00664.x

  5. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

    European Journal of Neurology

    Volume 20, Issue 1, January 2013, Pages: 138–146, E. Prodi, M. Grisoli, M. Panzeri, L. Minati, F. Fattori, A. Erbetta, G. Uziel, S. D'Arrigo, A. Tessa, C. Ciano, F. M. Santorelli, M. Savoiardo and C. Mariotti

    Version of Record online : 21 JUL 2012, DOI: 10.1111/j.1468-1331.2012.03815.x

  6. Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies

    European Journal of Neurology

    Volume 19, Issue 8, August 2012, Pages: e77–e78, M. Masciullo, A. Modoni, A. Tessa, F. M. Santorelli, V. Rizzo, G. D'Amico, F. Laschena, T. Tartaglione and G. Silvestri

    Version of Record online : 13 JUL 2012, DOI: 10.1111/j.1468-1331.2012.03752.x

  7. Middle Cerebellar Peduncles and Pontine T2 Hypointensities in ARSACS

    Journal of Neuroimaging

    Volume 23, Issue 1, January 2013, Pages: 82–85, Haruo Shimazaki, Yoshihisa Takiyama, Junko Honda, Kumi Sakoe, Michito Namekawa, Jun Tsugawa, Yoshio Tsuboi, Chieko Suzuki, Masayuki Baba and Imaharu Nakano

    Version of Record online : 23 JAN 2012, DOI: 10.1111/j.1552-6569.2011.00647.x

  8. You have full text access to this OnlineOpen article
    Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

    Clinical Case Reports

    Volume 4, Issue 12, December 2016, Pages: 1151–1156, Johanna Palmio, Mikko Kärppä, Peter Baumann, Sini Penttilä, Jukka Moilanen and Bjarne Udd

    Version of Record online : 26 OCT 2016, DOI: 10.1002/ccr3.722

  9. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan

    Movement Disorders

    Volume 20, Issue 3, March 2005, Pages: 380–382, Kenju Hara, Osamu Onodera, Minoru Endo, Hiroshi Kondo, Hiroshi Shiota, Kenji Miki, Naoyuki Tanimoto, Tetsuya Kimura and Masatoyo Nishizawa

    Version of Record online : 14 OCT 2004, DOI: 10.1002/mds.20315

  10. Sacsin-related ataxia with neither retinal hypermyelination nor spasticity

    Movement Disorders

    Volume 22, Issue 9, 15 July 2007, Pages: 1362–1363, Kenju Hara, Junsuke Shimbo, Hiroaki Nozaki, Koki Kikugawa, Osamu Onodera and Masatoyo Nishizawa

    Version of Record online : 21 MAY 2007, DOI: 10.1002/mds.21557

  11. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

    Movement Disorders

    Volume 20, Issue 10, October 2005, Pages: 1358–1361, Chiara Criscuolo, Francesco Saccà, Giuseppe De Michele, Pietro Mancini, Onofre Combarros, Jon Infante, Antonio Garcia, Sandro Banfi, Alessandro Filla and José Berciano

    Version of Record online : 8 JUL 2005, DOI: 10.1002/mds.20579

  12. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay

    Movement Disorders

    Volume 28, Issue 14, December 2013, Pages: 2011–2014, Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard and Jean Mathieu

    Version of Record online : 2 AUG 2013, DOI: 10.1002/mds.25604

  13. You have free access to this content
    Structure of the XPC binding domain of hHR23A reveals hydrophobic patches for protein interaction

    Protein Science

    Volume 13, Issue 9, September 2004, Pages: 2370–2377, Mariusz Kamionka and Juli Feigon

    Version of Record online : 1 JAN 2009, DOI: 10.1110/ps.04824304

  14. Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 396–397, M. Masciullo, G. Silvestri, A. Modoni, A. Tessa, M.L.E. Bianchi and F.M. Santorelli

    Version of Record online : 25 OCT 2013, DOI: 10.1111/cge.12295

  15. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 3, 15 December 2004, Pages: 249–254, K.K. Grewal, M.G. Stefanelli, I.A. Meijer, C.K. Hand, G.A. Rouleau and E.J. Ives

    Version of Record online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30397

  16. Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient

    Muscle & Nerve

    Volume 39, Issue 3, March 2009, Pages: 396–399, Hugh J. McMillan, Melissa T. Carter, Pierre J. Jacob, Eoghan E. Laffan, Michael D. O'Connor and Kym M. Boycott

    Version of Record online : 10 FEB 2009, DOI: 10.1002/mus.21222

  17. Diagnosis and management of early- and late-onset cerebellar ataxia

    Clinical Genetics

    Volume 71, Issue 1, January 2007, Pages: 12–24, E Brusse, JA Maat-Kievit and JC Van Swieten

    Version of Record online : 28 NOV 2006, DOI: 10.1111/j.1399-0004.2006.00722.x

  18. Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

    European Journal of Neurology

    Volume 18, Issue 9, September 2011, Pages: 1187–1190, E. M. Vingolo, R. Di Fabio, S. Salvatore, G. Grieco, E. Bertini, V. Leuzzi, C. Nesti, A. Filla, A. Tessa, F. Pierelli, F. M. Santorelli and C. Casali

    Version of Record online : 25 JAN 2011, DOI: 10.1111/j.1468-1331.2010.03335.x

  19. Rapid acclimation of juvenile corals to CO2-mediated acidification by upregulation of heat shock protein and Bcl-2 genes

    Molecular Ecology

    Volume 24, Issue 2, January 2015, Pages: 438–452, A. Moya, L. Huisman, S. Forêt, J.-P. Gattuso, D. C. Hayward, E. E. Ball and D. J. Miller

    Version of Record online : 9 JAN 2015, DOI: 10.1111/mec.13021

  20. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

    European Journal of Neurology

    Volume 20, Issue 3, March 2013, Pages: 486–492, M. B. Hammer, G. Eleuch-Fayache, J. R. Gibbs, S. K. Arepalli, S. B. Chong, C. Sassi, Y. Bouhlal, F. Hentati, R. Amouri and A. B. Singleton

    Version of Record online : 8 OCT 2012, DOI: 10.1111/j.1468-1331.2012.03883.x