Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

(2013) Matthew Henderson et al.   ACTA NEUROPATHOLOGICA

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

(2013) Heather M McLaughlin et al.   BMC Medical Genetics

Mitochondrial abnormalities in myofibrillar myopathies

(2013) Pushpa R. Joshi et al.   CLINICAL NEUROPATHOLOGY

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

(2013) Rumiko Izumi et al.   JOURNAL OF HUMAN 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

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

(2013) Takatoshi Sato et al.   NEUROMUSCULAR DISORDERS

An unusual phenotype of late-onset desminopathy

(2013) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

(2012) Rudolf A. Kley et al.   BRAIN

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

(2012) Carola Hedberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BAG3 mutations: another cause of giant axonal neuropathy

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

Diagnostic impact of myotonic discharges in myofibrillar myopathies

(2012) Frank Hanisch et al.   MUSCLE & NERVE

Myofibrilläre Myopathie bei ZASP-Mutation Ala147Thr

(2012) T. Kraya et al.   NERVENARZT

BAG3-related myofibrillar myopathy in a Chinese family

(2011) HC Lee et al.   CLINICAL GENETICS

Processing of nerve biopsies: A practical guide for neuropathologists

(2011) Joachim Weis et al.   CLINICAL NEUROPATHOLOGY

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

(2011) D. Selcen et al.   NEUROLOGY

P5.54 Novel BAG3 mutations in myofibrillar myopathy patients

(2011) T. Sato et al.   NEUROMUSCULAR DISORDERS

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

(2011) Montse Olivé et al.   NEUROMUSCULAR DISORDERS

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

(2011) Karim Wahbi et al.   NEUROMUSCULAR DISORDERS

A novel CRYAB mutation resulting in multisystemic disease

(2011) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

Neuromuscular imaging in inherited muscle diseases

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

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

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

(2010) Zagaa Odgerel et al.   NEUROMUSCULAR DISORDERS

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

(2010) Katharine M.L. Forrest et al.   NEUROMUSCULAR DISORDERS

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene

(2010) D. Hong et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

(2009) Kristl G. Claeys et al.   ACTA NEUROPATHOLOGICA

Myofibrillar Myopathies: A Clinical and Myopathological Guide

(2009) Rolf Schröder et al.   BRAIN PATHOLOGY

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

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

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?

(2008) Josep Gamez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

(2008) K.G. Claeys et al.   NEUROMUSCULAR DISORDERS

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

(2008) Katharina Strach et al.   NEUROMUSCULAR DISORDERS