Search Results

There are 7205657 results for: content related to: Ataxia-Telangiectasia

  1. Atypical Variants of the ‘Ataxia Telangiectasia’ Syndrome

    Developmental Medicine & Child Neurology

    Volume 5, Issue 1, February 1963, Pages: 14–23, Richmond S. Paine and Mary L. Efron

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1963.tb04985.x

  2. Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene

    Clinical Genetics

    Volume 55, Issue 5, May 1999, Pages: 289–304, M. Stephen Meyn

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550501.x

  3. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 561–571, Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewout R. Brunt, Els A. J. Peeters, Encarna B. Gómez Garcia, Marjo S. van der Knaap, Carsten R. Lincke, Laura A. E. M. Laan, Marina A. J. Tijssen, Monique A. van Rijn, Danielle Majoor-Krakauer, Marjan Visser, Laura J. van 't Veer, Wim J. Kleijer, Bart P. C. van de Warrenburg, Adilia Warris, Imelda J. M. de Groot, Ronald de Groot, Annegien Broeks, Frank Preijers, Berry H. P. H. Kremer, Corry M. R. Weemaes, Malcolm A. M. R. Taylor, Marcel van Deuren and Michèl A. A. P. Willemsen

    Version of Record online : 25 JAN 2012, DOI: 10.1002/humu.22016

  4. Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia-telangiectasia

    Annals of Neurology

    Volume 24, Issue 4, October 1988, Pages: 497–502, Dr. Jean Aicardi, Célia Barbosa, Eva Andermann, Frederick Andermann, Rami Morcos, Qais Ghanem, Yukio Fukuyama, Yutaka Awaya and Paul Moe

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410240404

  5. AN AUTOPSY CASE OF ATAXIA-TELANGIECTASIA

    Pathology International

    Volume 19, Issue 2, May 1969, Pages: 229–238, Yoshiaki Itatsu and Yutaka Uno

    Version of Record online : 11 DEC 2008, DOI: 10.1111/j.1440-1827.1969.tb00705.x

  6. Molecular basis of ataxia telangiectasia and related diseases

    Acta Pharmacologica Sinica

    Volume 26, Issue 8, August 2005, Pages: 897–907, Lindsay G BALL and Wei XIAO

    Version of Record online : 29 JUL 2005, DOI: 10.1111/j.1745-7254.2005.00165.x

  7. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

    Human Mutation

    Volume 30, Issue 1, January 2009, Pages: 12–21, M. Mitui, S.A. Nahas, L.T. Du, Z. Yang, C.H. Lai, K. Nakamura, S. Arroyo, S. Scott, A. Purayidom, P. Concannon, M. Lavin and R.A. Gatti

    Version of Record online : 16 JUL 2008, DOI: 10.1002/humu.20805

  8. Ataxia without telangiectasia

    Movement Disorders

    Volume 8, Issue 2, 1993, Pages: 223–226, Dr. Joseph H. Friedman and Alan Weitberg

    Version of Record online : 12 OCT 2004, DOI: 10.1002/mds.870080222

  9. Neuropathology in classical and variant ataxia-telangiectasia

    Neuropathology

    Volume 32, Issue 3, June 2012, Pages: 234–244, Mijke M.M. Verhagen, Jean-Jacques Martin, Marcel van Deuren, Chantal Ceuterick-de Groote, Corry M.R. Weemaes, Berry H.P.H. Kremer, Malcolm A.R. Taylor, Michèl A.A.P. Willemsen and Martin Lammens

    Version of Record online : 24 OCT 2011, DOI: 10.1111/j.1440-1789.2011.01263.x

  10. A CASE OF ATAXIA-TELANGIECTASIA WITH LESIONS IN THE SPINAL CORD

    Acta Neurologica Scandinavica

    Volume 42, Issue 3, July 1966, Pages: 354–366, Patrick Sourander, John Olof Bonnevier and Yngve Olsson

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1966.tb01187.x

  11. Defective Calcium-Dependent Signal Transduction in T Lymphocytes of Ataxia-Telangiectasia

    Scandinavian Journal of Immunology

    Volume 38, Issue 1, July 1993, Pages: 45–48, N. KONDO, R. INOUE, S. NISHIMURA, K. KASAHARA, T. KAMEYAMA, Y. MIWA, P. R. LORENZO I and T. ORII

    Version of Record online : 29 JUN 2006, DOI: 10.1111/j.1365-3083.1993.tb01692.x

  12. Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor

    Movement Disorders

    Volume 9, Issue 4, 1994, Pages: 460–462, J. A. P. Hiel, C. M. R. Weemaes, D. F. C. M. Smeets, C. J. W. van de Vlasakker and Dr. M. W. I. M. Horstink

    Version of Record online : 12 OCT 2004, DOI: 10.1002/mds.870090415

  13. You have free access to this content
    ATM and the DNA damage response

    EMBO reports

    Volume 7, Issue 2, February 2006, Pages: 154–160, Martin F Lavin, Domenico Delia and Luciana Chessa

    Version of Record online : 1 FEB 2006, DOI: 10.1038/sj.embor.7400629

  14. Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 272–277, Thilo Dörk, Regina Bendix-Waltes, Rolf-Dieter Wegner and Markus Stumm

    Version of Record online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20601

  15. Ataxia telangiectasia: more variation at clinical and cellular levels

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 199–208, A.M.R. Taylor, Z. Lam, J.I. Last and P.J. Byrd

    Version of Record online : 8 SEP 2014, DOI: 10.1111/cge.12453

  16. Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia

    Developmental Medicine & Child Neurology

    Maureen A Lefton-Greif, Adrienne L Perlman, Xuming He, Howard M Lederman and Thomas O Crawford

    Version of Record online : 23 MAY 2016, DOI: 10.1111/dmcn.13156

  17. Nerve Conduction Studies in Children with Friedreich's Ataxia and Ataxia-telangiectasia

    Developmental Medicine & Child Neurology

    Volume 15, Issue 3, June 1973, Pages: 324–337, Henry G. Dunn

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1973.tb04889.x

  18. Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients

    Movement Disorders

    Volume 29, Issue 10, September 2014, Pages: 1289–1298, Ishani Sahama, Kate Sinclair, Simona Fiori, Kerstin Pannek, Martin Lavin and Stephen Rose

    Version of Record online : 17 JUL 2014, DOI: 10.1002/mds.25970

  19. Reduced levels of fibronectin in ataxia-telangiectasia lymphoblastoid cells

    International Journal of Cancer

    Volume 33, Issue 3, 15 March 1984, Pages: 359–363, Martin F. Lavin and G. J. Seymour

    Version of Record online : 17 JUL 2006, DOI: 10.1002/ijc.2910330313

  20. You have free access to this content
    Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

    Clinical & Experimental Immunology

    Volume 153, Issue 2, August 2008, Pages: 214–220, E. R. Staples, E. M. McDermott, A. Reiman, P. J. Byrd, S. Ritchie, A. M. R. Taylor and E. G. Davies

    Version of Record online : 26 MAY 2008, DOI: 10.1111/j.1365-2249.2008.03684.x