The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

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 · 332 citations

Medicine, Genetics, Molecular Genetics +11

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Vilma‐Lotta Lehtokari, Katarina Pelin, Maria Sandbacka et al. · Human Mutation · 2006 · 127 citations

Life Sciences, Genetics, Molecular Genetics +14

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Carina Wallgren‐Pettersson, Katarina Pelin, Francesco Muntoni et al. · Neuromuscular Disorders · 2004 · 126 citations

Medicine, Genetics, Molecular Genetics +15

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

Kati Donner, Maria Sandbacka, Vilma‐Lotta Lehtokari et al. · European Journal of Human Genetics · 2004 · 112 citations

Life Sciences, Genetics, Molecular Genetics +14

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

SylviaL. Anderson, Josef Ekstein, MaryC. Donnelly et al. · Human Genetics · 2004 · 81 citations

Life Sciences, Genetics, Molecular Genetics +8