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Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

The Journal of clinical investigation, 2009-07, Vol.119 (7), p.1806-1813

2009

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Myofibrillar myopathies: new developments

Current opinion in neurology, 2013-10, Vol.26 (5), p.527-535

2013

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Filamin C-related myopathies: pathology and mechanisms

Acta neuropathologica, 2013-01, Vol.125 (1), p.33-46

2013

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Myotilinopathy: refining the clinical and myopathological phenotype

Brain (London, England : 1878), 2005-10, Vol.128 (10), p.2315-2326

2005

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Intermediate filament diseases: desminopathy

Advances in experimental medicine and biology, 2008, Vol.642, p.131

2008

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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

American journal of human genetics, 2010-12, Vol.87 (6), p.842-847

2010

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Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

American journal of human genetics, 2003-05, Vol.72 (5), p.1293-1299

2003

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The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates

Journal of neuropathology and experimental neurology, 2022-09, Vol.81 (9), p.746-757

2022

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A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

Neuromuscular disorders : NMD, 2014-03, Vol.24 (3), p.241-244

2014

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

Neuromuscular disorders : NMD, 2010-07, Vol.20 (7), p.438-442

2010

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Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with Malignant hyperthermia susceptibility in the North American Population

Anesthesiology (Philadelphia), 2005-03, Vol.102 (3), p.515-521

2005

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

Brain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2642-2660

2012

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Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

BMC neurology, 2013-03, Vol.13 (1), p.29-29, Article 29

2013

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Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

The Journal of neuroscience, 2006-10, Vol.26 (41), p.10397-10406

2006

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Kuru: Genes, Cannibals and Neuropathology

Journal of neuropathology and experimental neurology, 2012-02, Vol.71 (2), p.92-103

2012

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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

The New England journal of medicine, 2000-03, Vol.342 (11), p.770-780

2000

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Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23

Brain (London, England : 1878), 2006-09, Vol.129 (9), p.2318-2331

2006

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Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia

Muscle & nerve, 2012-08, Vol.46 (2), p.275-282

2012

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Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

BMC neurology, 2015-10, Vol.15 (223), p.223-223, Article 223

2015

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Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Neurogenetics, 2016-07, Vol.17 (3), p.179-185

2016

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Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations

Autophagy, 2013-03, Vol.9 (3), p.422-423

2013

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Nature genetics, 1998-08, Vol.19 (4), p.402-403

1998

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

Brain (London, England : 1878), 2005-10, Vol.128 (10), p.2304-2314

2005

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

Neuromuscular disorders : NMD, 2009-06, Vol.19 (6), p.418-422

2009

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

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.656-663

2009

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Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

Myofibrillar myopathies: new developments

Filamin C-related myopathies: pathology and mechanisms

Myotilinopathy: refining the clinical and myopathological phenotype

Intermediate filament diseases: desminopathy

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

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

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with Malignant hyperthermia susceptibility in the North American Population

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

Kuru: Genes, Cannibals and Neuropathology

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

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

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

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