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There are 6718 results for: content related to: Clinical features of adult G M1 gangliosidosis: Report of three Indian patients and review of 40 cases

  1. Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 843–852, Katsumi Higaki, Linjing Li, Udin Bahrudin, Soichiro Okuzawa, Ayumi Takamuram, Koichi Yamamoto, Kaori Adachi1, Rubigilda C. Paraguison, Tomoko Takai, Hiroki Ikehata, Lika Tominaga, Ichiro Hisatome, Masami Iida, Seiichiro Ogawa, Junichiro Matsuda, Haruaki Ninomiya, Yasubumi Sakakibara, Kousaku Ohno, Yoshiyuki Suzuki and Eiji Nanba

    Article first published online : 27 JUN 2011, DOI: 10.1002/humu.21516

  2. ULTRASTRUCTURAL FINDINGS OF RECTAL AND SKIN BIOPSIES IN ADULT GM1-GANGLIOSIDOSIS

    Pathology International

    Volume 36, Issue 12, December 1986, Pages: 1823–1831, Shu-ichi Ikeda, Masao Ushiyama, Takeshi Nakano, Takako Kikkawa, Kiyohiko Kondo and Nobuo Yanagisawa

    Article first published online : 11 DEC 2008, DOI: 10.1111/j.1440-1827.1986.tb02246.x

  3. Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies

    Annals of Neurology

    Volume 9, Issue 5, May 1981, Pages: 476–483, Takuro Kobayashi and Dr. Kunihiko Suzuki

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410090510

  4. GM1 Gangliosidosis: Phenotypic variation in a single family

    Annals of Neurology

    Volume 9, Issue 3, March 1981, Pages: 225–231, Dr. Donald F. Farrell and Ute Ochs

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410090304

  5. You have full text access to this Open Access content
    Insights into post-translational processing of β-galactosidase in an animal model resembling late infantile human GM1-gangliosidosis

    Journal of Cellular and Molecular Medicine

    Volume 12, Issue 5a, September/October 2008, Pages: 1661–1671, R. Kreutzer, M. Kreutzer, M. J. Pröpsting, A. C. Sewell, T. Leeb, H. Y. Naim and W. Baumgärtner

    Article first published online : 14 DEC 2007, DOI: 10.1111/j.1582-4934.2007.00204.x

  6. Morquio B syndrome: A primary defect in β-galactosidase

    American Journal of Medical Genetics

    Volume 16, Issue 2, October 1983, Pages: 261–275, Gijsbertus T. J. van der Horst, Wim J. Kleijer, André T. Hoogeveen, Jan G. M. Huijmans, Wim Blom and Dr. Otto P. van Diggelen

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320160215

  7. You have free access to this content
    Lysosomal accumulation of Trk protein in brain of GM1-gangliosidosis mouse and its restoration by chemical chaperone

    Journal of Neurochemistry

    Volume 118, Issue 3, August 2011, Pages: 399–406, Ayumi Takamura, Katsumi Higaki, Haruaki Ninomiya, Tomoko Takai, Junichiro Matsuda, Masami Iida, Kousaku Ohno, Yoshiyuki Suzuki and Eiji Nanba

    Article first published online : 17 JUN 2011, DOI: 10.1111/j.1471-4159.2011.07310.x

  8. Increased Acetylcholine Synthesis and Release in Brains of Cats with GM1 Gangliosidosis

    Journal of Neurochemistry

    Volume 46, Issue 5, May 1986, Pages: 1567–1572, Richard S. Jope, Henry J. Baker and Donald J. Connor

    Article first published online : 5 OCT 2006, DOI: 10.1111/j.1471-4159.1986.tb01778.x

  9. GM1 Gangliosidosis: Enzymatic variation in a single family

    Annals of Neurology

    Volume 9, Issue 3, March 1981, Pages: 232–236, Dr. Donald F. Farrell and Marian P. Macmartin

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410090305

  10. OLIGOSACCHARIDE STORAGE IN BRAINS FROM PATIENTS WITH FUCOSIDOSIS, GM1-GANGLIOSIDOSIS AND GM2-GANGLIOSIDOSIS (SANDHOFF'S DISEASE)

    Journal of Neurochemistry

    Volume 27, Issue 3, September 1976, Pages: 733–740, Grace Chen Tsay and Glyn Dawson

    Article first published online : 4 OCT 2006, DOI: 10.1111/j.1471-4159.1976.tb10401.x

  11. Chemical chaperone therapy: clinical effect in murine GM1-gangliosidosis

    Annals of Neurology

    Volume 62, Issue 6, December 2007, Pages: 671–675, Yoshiyuki Suzuki, Satoshi Ichinomiya, Mieko Kurosawa, Masato Ohkubo, Hiroshi Watanabe, Hiroyuki Iwasaki, Junichiro Matsuda, Yoko Noguchi, Kazuhiro Takimoto, Masayuki Itoh, Miho Tabe, Masami Iida, Takatoshi Kubo, Seiichiro Ogawa, Eiji Nanba, Katsumi Higaki, Kousaku Ohno and Roscoe O. Brady

    Article first published online : 9 NOV 2007, DOI: 10.1002/ana.21284

  12. Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features

    Annals of Neurology

    Volume 9, Issue 5, May 1981, Pages: 465–475, Dr. James E. Goldman, David Katz, Isabelle Rapin, Dominick P. Purpura and Kinuko Suzuki

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410090509

  13. Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

    Human Mutation

    Volume 3, Issue 2, 1994, Pages: 112–120, Amelia Morrone, Hans Morreau, Xiao Yan Zhou, Enrico Zammarchi, Wim J. Kleijer, Hans Galjaard and Alessandra d'Azzo

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380030205

  14. You have free access to this content
    Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects

    European Journal of Biochemistry

    Volume 149, Issue 2, June 1985, Pages: 247–255, Sybille SONDERFELD, Ernst CONZELMANN, Günter SCHWARZMANN, Josef BURG, Ute HINRICHS and Konrad SANDHOFF

    Article first published online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1985.tb08919.x

  15. Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

    Human Mutation

    Volume 25, Issue 3, March 2005, Pages: 285–292, Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi and Amelia Morrone

    Article first published online : 15 FEB 2005, DOI: 10.1002/humu.20147

  16. Combined sialidase (neuraminidase) and β-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

    Clinical Genetics

    Volume 26, Issue 2, August 1984, Pages: 139–149, M. C. B. Loonen, A. J. J. Reuser, P. Visser and W. F. M. Arts

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1984.tb00804.x

  17. Novel β-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1736–1740, Zoran S. Gucev, Velibor Tasic, Aleksandra Jancevska, Georgi Zafirovski, Ivo Kremensky, Ivanka Sinigerska, Eiji Nanba, Katsumi Higaki, Filip Gucev and Yoshiyuki Suzuki

    Article first published online : 10 JUN 2008, DOI: 10.1002/ajmg.a.32318

  18. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 236–246, D Hofer, K Paul, K Fantur, M Beck, A Roubergue, A Vellodi, BJ Poorthuis, H Michelakakis, B Plecko and E Paschke

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01379.x

  19. Dystonia and parkinsonism in GM1 type 3 gangliosidosis

    Movement Disorders

    Volume 20, Issue 10, October 2005, Pages: 1366–1369, Emmanuel Roze, Eduard Paschke, Nathalie Lopez, Thomas Eck, Kunihiro Yoshida, Annie Maurel-Ollivier, Diane Doummar, Catherine Caillaud, Damien Galanaud, Thierry Billette De Villemeur, Marie Vidailhet and Anne Roubergue

    Article first published online : 28 JUN 2005, DOI: 10.1002/mds.20593

  20. Angiokeratoma corporis diffusum in GM1 gangliosidosis, Type 1

    Clinical Genetics

    Volume 36, Issue 1, July 1989, Pages: 59–64, Nicholas G. Beratis, Anastasia Varvarigou-Frimas, Stavroula Beratis and Susan L. Sklower

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1989.tb03367.x