Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Featured article: Angelman syndrome: a review of the literature

Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features—movement disorders, communication impairments, behavior, and sleep. This review takes a look at some of the literature available on AS, to provide a better idea.

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1. RESEARCH

   Health-related quality of life among adults with diverse rare disorders

   Kathleen R. Bogart and Veronica L. Irvin

   Published on: 7 December 2017
2. RESEARCH

   A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

   Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad and Jouni Uitto

   Published on: 6 December 2017
3. RESEARCH

   Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States

   Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook and W. Dana Flanders

   Published on: 28 November 2017
4. REVIEW

   Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

   Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni and Valentina Massa

   Published on: 21 November 2017
5. RESEARCH

   Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

   Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur…

   Published on: 17 November 2017

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