Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

(2015) Anna Kostera-Pruszczyk et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency

(2014) Avnika A. Ruparelia et al.   ACTA NEUROPATHOLOGICA

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice

(2013) Andrea A. Domenighetti et al.   HUMAN MOLECULAR GENETICS

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

(2013) G. Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Identification of an FHL1 Protein Complex Containing Gamma-Actin and Non-Muscle Myosin IIB by Analysis of Protein-Protein Interactions

(2013) Lili Wang et al.   PLoS One

Desminopathies: pathology and mechanisms

(2012) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

(2012) Felix W. Friedrich et al.   HUMAN MOLECULAR GENETICS

BAG3 mutations: another cause of giant axonal neuropathy

(2012) Fatima Jaffer et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Patient-specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components

(2012) Sarah Feldkirchner et al.   PROTEOMICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quality control and preprocessing of metagenomic datasets

(2011) R. Schmieder et al.   BIOINFORMATICS

BAG3-related myofibrillar myopathy in a Chinese family

(2011) HC Lee et al.   CLINICAL GENETICS

Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome

(2011) Ignatius Gerardo Zarraga et al.   HEART RHYTHM

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features

(2011) Belinda S. Cowling et al.   NEUROMUSCULAR DISORDERS

BAG3: a multifaceted protein that regulates major cell pathways

(2011) A Rosati et al.   Cell Death & Disease

Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

(2011) Evgeny A. Glazov et al.   PLoS Genetics

BAG3 and Hsc70 Interact With Actin Capping Protein CapZ to Maintain Myofibrillar Integrity Under Mechanical Stress

(2010) Akinori Hishiya et al.   CIRCULATION RESEARCH

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations

(2010) Dong-Hui Chen et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

(2010) Zagaa Odgerel et al.   NEUROMUSCULAR DISORDERS

Familial Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Revisited: Identification of a Second LIM Domain Mutation in FHL1

(2010) J. Schessl et al.   NEUROPEDIATRICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

(2009) Lucie Gueneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

(2009) Joachim Schessl et al.   BRAIN

Myofibril assembly visualized by imaging N-RAP, alpha-actinin, and actin in living cardiomyocytes

(2009) Shyam M. Manisastry et al.   EXPERIMENTAL CELL RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Consequences of mutations within the C terminus of the FHL1 gene

(2009) B. Schoser et al.   NEUROLOGY

Improved prediction of protein side-chain conformations with SCWRL4

(2009) Georgii G. Krivov et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

(2008) Catarina M. Quinzii et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

(2008) Christian Windpassinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy

(2008) Belinda S. Cowling et al.   JOURNAL OF CELL BIOLOGY

An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice

(2008) Farah Sheikh et al.   JOURNAL OF CLINICAL INVESTIGATION

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

(2008) Sherine Shalaby et al.   NEUROMUSCULAR DISORDERS

Role of nonmuscle myosin IIB and N-RAP in cell spreading and myofibril assembly in primary mouse cardiomyocytes

(2008) Shajia Lu et al.   CELL MOTILITY AND THE CYTOSKELETON