Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

by Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller
Published 2017-07-01

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

by Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub
Published 2020-05-01

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

by Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke van der Horst, Pedro Lopes, Rajaram Kaliyaperumal, Mark Thompson, Rachel Thompson, Núria Queralt-Rosinach, Estrella Lopez, Libby Wood, Agata Robertson, Claudia Lamanna, Mette Gilling, Michael Orth, Roxana Merino-Martinez, Manuel Posada, Domenica Taruscio, Hanns Lochmüller, Peter Robinson, Marco Roos, José Luís Oliveira
Published 2017-01-01