Jon Andoni Urtizberea

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Eileen M. Shore, Meiqi Xu, George Feldman et al. · Nature Genetics · 2006 · 1.2K citations

Recurrent Mutation, Fibrosis, Signal Transduction +11

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner et al. · Proceedings of the National Academy of Sciences · 1999 · 328 citations · Full text

Phenotypic Study in 40 Patients With Dysferlin Gene Mutations

Karine Nguyen, Guillaume Bassez, Martin Krahn et al. · Archives of Neurology · 2007 · 262 citations

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy et al. · Annals of Neurology · 2007 · 245 citations

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Elena Bussaglia, Olivier Clermont, Eduardo F. Tizzano et al. · Nature Genetics · 1995 · 217 citations

Genetics, Frame–shift Deletion, Degenerative Disease +7