Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

Distal arthrogryposis: clinical and genetic findings

(2012) Eva Kimber et al.   ACTA PAEDIATRICA

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

(2012) James J. Dowling et al.   BRAIN

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Myopathies associated with β-tropomyosin mutations

(2012) H. Tajsharghi et al.   NEUROMUSCULAR DISORDERS

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness inTPM2-related nemaline and cap myopathy

(2011) Minttu Marttila et al.   BIOCHEMICAL JOURNAL

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

(2011) W. R. Telfer et al.   Disease Models & Mechanisms

Structural Analysis of Smooth Muscle Tropomyosin α and β Isoforms

(2011) Jampani Nageswara Rao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

(2010) Aurelio Hernandez-Lain et al.   European Journal of Medical Genetics

A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation

(2010) J. Ochala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Arthrogryposis: A Review and Update

(2009) Michael Bamshad et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

(2009) N. B. Romero et al.   NEUROLOGY

Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

(2009) Nicole Monnier et al.   NEUROMUSCULAR DISORDERS

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

(2009) Nigel F. Clarke et al.   NEUROMUSCULAR DISORDERS

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY

Novel RYR1 missense mutation causes core rod myopathy

(2008) M. von der Hagen et al.   EUROPEAN JOURNAL OF NEUROLOGY

β-Tropomyosin mutations alter tropomyosin isoform composition

(2008) J. Nilsson et al.   EUROPEAN JOURNAL OF NEUROLOGY

Thin filament proteins mutations associated with skeletal myopathies: Defective regulation of muscle contraction

(2008) Julien Ochala   JOURNAL OF MOLECULAR MEDICINE-JMM

Disease Severity and Thin Filament Regulation in M9RTPM3Nemaline Myopathy

(2008) Biljana Ilkovski et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation

(2008) Julien Ochala et al.   JOURNAL OF PHYSIOLOGY-LONDON

New morphologic and genetic findings in cap disease associated with  -tropomyosin (TPM2) mutations

(2008) M. Ohlsson et al.   NEUROLOGY

Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-T

(2008) K. Murakami et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA