M. Marttila

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 164 citations · Full text

Medicine, Molecular Genetics, Pathology +13

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Vilma‐Lotta Lehtokari, K. Kiiski, Sarah A. Sandaradura et al. · Human Mutation · 2014 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies

M. Marttila, Vilma‐Lotta Lehtokari, Steven B. Marston et al. · Human Mutation · 2014 · 111 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2

Vilma‐Lotta Lehtokari, Chantal Ceuterick‐de Groote, Peter De Jonghe et al. · Neuromuscular Disorders · 2007 · 98 citations

Life Sciences, Genetics, Molecular Genetics +6

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Nancy Mokbel, Biljana Ilkovski, Michaela Kreissl et al. · Brain · 2013 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +14