A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Deregulated Ca2+cycling underlies the development of arrhythmia and heart disease due to mutant obscurin

(2017) Li-Yen R. Hu et al.   Science Advances

The sarcomeric cytoskeleton: from molecules to motion

(2016) Mathias Gautel et al.   JOURNAL OF EXPERIMENTAL BIOLOGY

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

(2016) Anni Evilä et al.   NEUROMUSCULAR DISORDERS

Biophysical characterization of naturally occurring titin M10 mutations

(2015) Michael W. Rudloff et al.   PROTEIN SCIENCE

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

(2015) Steven Marston et al.   PLoS One

Atypical phenotypes in titinopathies explained by second titin mutations

(2014) Anni Evilä et al.   ANNALS OF NEUROLOGY

YASARA View—molecular graphics for all devices—from smartphones to workstations

(2014) Elmar Krieger et al.   BIOINFORMATICS

A Mutation in theCASQ1Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates

(2014) Daniela Rossi et al.   HUMAN MUTATION

A Rising Titan:TTNReview and Mutation Update

(2014) Claire Chauveau et al.   HUMAN MUTATION

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum

(2013) Daniela Rossi et al.   BIOCHEMICAL JOURNAL

Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity

(2013) Davide Randazzo et al.   JOURNAL OF CELL BIOLOGY

Structure of giant muscle proteins

(2013) Logan C. Meyer et al.   Frontiers in Physiology

Filamin C-related myopathies: pathology and mechanisms

(2012) Dieter O. Fürst et al.   ACTA NEUROPATHOLOGICA

Filamins in Mechanosensing and Signaling

(2012) Ziba Razinia et al.   Annual Review of Biophysics

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

(2012) Rudolf A. Kley et al.   BRAIN

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy

(2012) Avnika A. Ruparelia et al.   HUMAN MOLECULAR GENETICS

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

(2011) Rachael M. Duff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro

(2011) Misato Fujita et al.   DEVELOPMENTAL BIOLOGY

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

(2011) V. Guergueltcheva et al.   NEUROLOGY

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

Muscular dystrophies: an update on pathology and diagnosis

(2010) Caroline A. Sewry   ACTA NEUROPATHOLOGICA

The sarcomeric cytoskeleton: who picks up the strain?

(2010) Mathias Gautel   CURRENT OPINION IN CELL BIOLOGY

A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family

(2010) Xinghua Luan et al.   NEUROMUSCULAR DISORDERS

Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex

(2010) S. Pernigo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TALOS+: a hybrid method for predicting protein backbone torsion angles from NMR chemical shifts

(2009) Yang Shen et al.   JOURNAL OF BIOMOLECULAR NMR

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

(2008) Alexey Shatunov et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band - implications for hereditary myopathies

(2008) A. Fukuzawa et al.   JOURNAL OF CELL SCIENCE