Orphanet Journal of Rare Diseases

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
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
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
MEETING ABSTRACTS
Abstracts from the First European Meeting for ATTR Amyloidosis for Doctors and Patients
Published on: 2 November 2017
RESEARCH
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton and Georgia Xiromerisiou
Published on: 2 November 2017