A. Robertson

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Susan C. Brown, F. Muntoni, K. Mathews, 2016, Neuromuscular Disorders.

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

K. Mathews, H. Lochmüller, J. Vissing, 2020, Annals of clinical and translational neurology.

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

Hanns Lochmüller, I. Wilson, Suzanne F. Cook, 2017, Orphanet Journal of Rare Diseases.

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

H. Lochmüller, Rachel Thompson, A. Robertson, 2017, Advances in experimental medicine and biology.

218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016

R. Finkel, M. Main, E. Mazzone, 2017, Neuromuscular Disorders.

A multi-source approach to determine SMA incidence and research ready population

Hanns Lochmüller, Suzanne F. Cook, J. Kirschner, 2017, Journal of Neurology.

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

Núria Queralt-Rosinach, José Luís Oliveira, Rajaram Kaliyaperumal, 2017, BioMed research international.

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

H. Lochmüller, A. Robertson, R. Thompson, 2017, Advances in Experimental Medicine and Biology.