Titin mutation segregates with hereditary myopathy with early respiratory failure

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Neuromuscular imaging in inherited muscle diseases

(2010) Mike P. Wattjes et al.   EUROPEAN RADIOLOGY

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

(2010) C. Paradas et al.   NEUROLOGY

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

(2010) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis

(2009) Anna Nogalska et al.   ACTA NEUROPATHOLOGICA

ALS with respiratory onset: Clinical features and effects of non-invasive ventilation on the prognosis

(2009) Guillaume Gautier et al.   Amyotrophic Lateral Sclerosis

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Single Molecule Force Spectroscopy of the Cardiac Titin N2B Element

(2009) Yi Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Titin-based mechanical signalling in normal and failing myocardium

(2009) Martina Krüger et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

(2009) Richard Charlton et al.   NEUROMUSCULAR DISORDERS

Pompe disease: A neuromuscular disease with respiratory muscle involvement

(2009) Uwe Mellies et al.   RESPIRATORY MEDICINE

Molecular pathology of myofibrillar myopathies

(2008) Isidre Ferrer et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

(2008) Lydia U. Yamamoto et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

(2008) Peter Hackman et al.   NEUROMUSCULAR DISORDERS

A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin

(2008) Teresinha Evangelista et al.   NEUROMUSCULAR DISORDERS