4.6 Review

Filamin C-related myopathies: pathology and mechanisms

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

Matthew B. Harms et al.

ANNALS OF NEUROLOGY (2012)

Article Genetics & Heredity

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

Rachael M. Duff et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Clinical Neurology

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

V. Guergueltcheva et al.

NEUROLOGY (2011)

Article Clinical Neurology

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

Duygu Selcen et al.

NEUROLOGY (2011)

Article Clinical Neurology

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Montse Olive et al.

NEUROMUSCULAR DISORDERS (2011)

Review Clinical Neurology

Myofibrillar myopathies

Duygu Selcen

NEUROMUSCULAR DISORDERS (2011)

Article Medical Laboratory Technology

DNA sequencing errors in molecular diagnostics of filamin myopathy

Zagaa Odgerel et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2010)

Article Biochemistry & Molecular Biology

Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance

Verena Arndt et al.

CURRENT BIOLOGY (2010)

Letter Biotechnology & Applied Microbiology

Towards a knowledge-based Human Protein Atlas

Mathias Uhlen et al.

NATURE BIOTECHNOLOGY (2010)

Article Clinical Neurology

Dominant-negative effects of a novel mutation in the filamin myopathy

P. F. M. van der Ven et al.

NEUROLOGY (2010)

Article Clinical Neurology

Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy

Duygu Selcen et al.

ANNALS OF NEUROLOGY (2009)

Article Clinical Neurology

MINI-SYMPOSIUM: Protein Aggregate Myopathies Introduction

Hans H. Goebel

BRAIN PATHOLOGY (2009)

Article Clinical Neurology

Myofibrillar Myopathies: A Clinical and Myopathological Guide

Rolf Schroeder et al.

BRAIN PATHOLOGY (2009)

Review Cardiac & Cardiovascular Systems

Build it up-Tear it down: protein quality control in the cardiac sarcomere

Monte S. Willis et al.

CARDIOVASCULAR RESEARCH (2009)

Article Biochemistry & Molecular Biology

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

Alexey Shatunov et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2009)

Article Clinical Neurology

Myofibrillar myopathies

Duygu Selcen

CURRENT OPINION IN NEUROLOGY (2008)

Article Clinical Neurology

Distinct muscle imaging patterns in myofibrillar myopathies

D. Fischer et al.

NEUROLOGY (2008)

Article Cell Biology

Nebulette interacts with filamin C

William B. Holmes et al.

CELL MOTILITY AND THE CYTOSKELETON (2008)

Article Cell Biology

Identification of CAP as a costameric protein that interacts with filamin C

Mei Zhang et al.

MOLECULAR BIOLOGY OF THE CELL (2007)

Article Biochemistry & Molecular Biology

Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer

Ljiljana Sjekloca et al.

JOURNAL OF MOLECULAR BIOLOGY (2007)

Article Genetics & Heredity

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Louise S. Bicknell et al.

JOURNAL OF MEDICAL GENETICS (2007)

Article Biochemistry & Molecular Biology

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure

I. Dalkilic et al.

MOLECULAR AND CELLULAR BIOLOGY (2006)

Review Biochemistry & Molecular Biology

Filamins: promiscuous organizers of the cytoskeleton

Grzegorz M. Popowicz et al.

TRENDS IN BIOCHEMICAL SCIENCES (2006)

Article Genetics & Heredity

Mutations in two regions of FLNB result in atelosteogenesis I and III

Claire Farrington-Rock et al.

HUMAN MUTATION (2006)

Article Biochemistry & Molecular Biology

Structural basis for vertebrate filamin dimerization

R Pudas et al.

STRUCTURE (2005)

Review Clinical Neurology

Congenital myopathies at their molecular dawning

HH Goebel

MUSCLE & NERVE (2003)

Article Biochemistry & Molecular Biology

The limits of promiscuity:: Isoform-specific dimerization of filamins

M Himmel et al.

BIOCHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins

N Frey et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Review Biochemistry & Molecular Biology

Structural and functional aspects of filamins

A van der Flier et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2001)

Review Cell Biology

Filamins as integrators of cell mechanics and signalling

TP Stossel et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)

Article Biochemistry & Molecular Biology

FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle

G Faulkner et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)

Article Cell Biology

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

TG Thompson et al.

JOURNAL OF CELL BIOLOGY (2000)