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New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

Acta neuropathologica communications, 2016-02, Vol.4 (8), p.8-8, Article 8

2016

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Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

Journal of proteomics, 2013-09, Vol.90, p.14-27

2013

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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

Brain (London, England : 1878), 2007-12, Vol.130 (12), p.3250-3264

2007

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Structural basis for activation of the titin kinase domain during myofibrillogenesis

Nature (London), 1998-10, Vol.395 (6705), p.863-869

1998

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology, 2011-12, Vol.77 (24), p.2105

2011

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Xin-deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality

Acta Physiologica, 2015-06, Vol.214 (2), p.248-260

2015

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The Structure of the Sarcomeric M Band: Localization of Defined Domains of Myomesin, M-Protein, and the 250-kD Carboxy-Terminal Region of Titin by Immunoelectron Microscopy

The Journal of cell biology, 1996-09, Vol.134 (6), p.1441-1453

1996

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Myotonic dystrophy kinase is a component of neuromuscular junctions

Human molecular genetics, 1993-11, Vol.2 (11), p.1889-1894

1993

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New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

Human molecular genetics, 2015-07, Vol.24 (13), p.3638-3650

2015

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A functional knock-out of titin results in defective myofibril assembly

Journal of cell science, 2000-04, Vol.113 ( Pt 8) (8), p.1405-1414

2000

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Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Journal of the neurological sciences, 2003-01, Vol.206 (1), p.71-78

2003

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Titin aggregates associated with intermediate filaments align along stress fiber-like structures during human skeletal muscle cell differentiation

Journal of cell science, 1993-11, Vol.106 (3), p.749-759

1993

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Basic fibroblast growth factor has a differential effect on MyoD conversion of cultured aortic smooth muscle cells from newborn and adult rats

The American journal of pathology, 1993-07, Vol.143 (1), p.269-282

1993

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Xerostomia: evaluation of a symptom with increasing significance

The Journal of the American Dental Association (1939), 1985-04, Vol.110 (4), p.519

1985

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Association of Plectin with Z-Discs Is a Prerequisite for the Formation of the Intermyofibrillar Desmin Cytoskeleton

Laboratory investigation, 2000-04, Vol.80 (4), p.455-464

2000

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Assignment of the Human Gene for the Sarcomeric M-Band Protein Myomesin (MYOM1) to 18p11.31–p11.32

Genomics (San Diego, Calif.), 1998-11, Vol.54 (1), p.184-186

1998

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Indications for a Novel Muscular Dystrophy Pathway: γ-Filamin, the Muscle-Specific Filamin Isoform, Interacts with Myotilin

The Journal of cell biology, 2000-10, Vol.151 (2), p.235-247

2000

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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

Human molecular genetics, 2003-03, Vol.12 (6), p.657-669

2003

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Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

FEBS letters, 1998-05, Vol.428 (1), p.111-114

1998

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Assignment of the Human Gene for Endosarcomeric Cytoskeletal M-Protein (MYOM2) to 8p23.3

Genomics (San Diego, Calif.), 1999-01, Vol.55 (2), p.253-255

1999

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A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

Neurology, 2003-08, Vol.61 (3), p.404

2003

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Differentiation of human skeletal muscle cells in culture : maturation as indicated by titin and desmin striation

Cell and tissue research, 1992-10, Vol.270 (1), p.189-198

1992

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Structure and assembly of the sarcomeric M band

Reviews of physiology, biochemistry and pharmacology, 1999, Vol.138, p.163

1999

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Increased expression of a 68-kDa protein in the corpus cavernosum of some men with erectile dysfunction

Journal of andrology, 1995-05, Vol.16 (3), p.242-247

1995

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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

Human molecular genetics, 2007-12, Vol.16 (23), p.2989-2990

2007

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New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

Structural basis for activation of the titin kinase domain during myofibrillogenesis

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Xin-deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality

The Structure of the Sarcomeric M Band: Localization of Defined Domains of Myomesin, M-Protein, and the 250-kD Carboxy-Terminal Region of Titin by Immunoelectron Microscopy

Myotonic dystrophy kinase is a component of neuromuscular junctions

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

A functional knock-out of titin results in defective myofibril assembly

Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle

Titin aggregates associated with intermediate filaments align along stress fiber-like structures during human skeletal muscle cell differentiation

Basic fibroblast growth factor has a differential effect on MyoD conversion of cultured aortic smooth muscle cells from newborn and adult rats

Xerostomia: evaluation of a symptom with increasing significance

Association of Plectin with Z-Discs Is a Prerequisite for the Formation of the Intermyofibrillar Desmin Cytoskeleton

Assignment of the Human Gene for the Sarcomeric M-Band Protein Myomesin (MYOM1) to 18p11.31–p11.32

Indications for a Novel Muscular Dystrophy Pathway: γ-Filamin, the Muscle-Specific Filamin Isoform, Interacts with Myotilin

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

Assignment of the Human Gene for Endosarcomeric Cytoskeletal M-Protein (MYOM2) to 8p23.3

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2

Differentiation of human skeletal muscle cells in culture : maturation as indicated by titin and desmin striation

Structure and assembly of the sarcomeric M band

Increased expression of a 68-kDa protein in the corpus cavernosum of some men with erectile dysfunction

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

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