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  1. The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires a...

    Authors: Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner and Christian Beetz
    Citation: Orphanet Journal of Rare Diseases 2015 10:147
    Content type: Research Published on:

  2. A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.

    Authors: Laura L. Tosi, Matthew E. Oetgen, Marianne K. Floor, Mary Beth Huber, Ann M. Kennelly, Robert J. McCarter, Melanie F. Rak, Barbara J. Simmonds, Melissa D. Simpson, Carole A. Tucker and Fergus E. McKiernan
    Citation: Orphanet Journal of Rare Diseases 2015 10:146
    Content type: Research Published on:

  3. Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and...

    Authors: Louise F. Porter, Roberto Gallego-Pinazo, Catherine L. Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes D. Manson and Graeme C. Black
    Citation: Orphanet Journal of Rare Diseases 2015 10:145
    Content type: Research Published on:

  40. Fucosidosis results from lack of α-L-fucosidase activity, with accumulation of fucose-linked substrates in the nervous system and viscera leading to progressive motor and mental deterioration, and death. The n...

    Authors: Gauthami Sudhamayee Kondagari, Jessica Louise Fletcher, Rachel Cruz, Peter Williamson, John J. Hopwood and Rosanne Maree Taylor
    Citation: Orphanet Journal of Rare Diseases 2015 10:143
    Content type: Research Published on:

  48. Authors: Björn Pilebro, Per Lindqvist, Sandra Gustafsson, Per Westermark, Torbjörn Sundström, Gunnar Antoni, Ole Suhr and Jens Sörensen
    Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O15
    Content type: Oral presentation Published on:

    This article is part of a Supplement: Volume 10 Supplement 1

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172