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

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

(2010) Kristl G. Claeys et al.   AMERICAN JOURNAL OF PATHOLOGY

Myofibrillar myopathies

(2010) Duygu Selcen   CURRENT OPINION IN NEUROLOGY

Mutations in Desmin's Carboxy-Terminal “Tail” Domain Severely Modify Filament and Network Mechanics

(2010) Harald Bär et al.   JOURNAL OF MOLECULAR BIOLOGY

Human Intestinal TFF3 Forms Disulfide-Linked Heteromers with the Mucus-Associated FCGBP Protein and Is Released by Hydrogen Sulfide

(2010) Timo K. Albert et al.   JOURNAL OF PROTEOME RESEARCH

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

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

(2010) Peter Reilich et al.   NEUROMUSCULAR DISORDERS

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

(2009) Hans Knoblauch et al.   ANNALS OF NEUROLOGY

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

(2009) Joachim Schessl et al.   BRAIN

TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

(2009) Montse Olivé et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Universal sample preparation method for proteome analysis

(2009) Jacek R Wiśniewski et al.   NATURE METHODS

Consequences of mutations within the C terminus of the FHL1 gene

(2009) B. Schoser et al.   NEUROLOGY

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

(2009) Gerard Piñol-Ripoll et al.   NEUROMUSCULAR DISORDERS

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

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

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

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype

(2007) J Berciano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY