Published in Neuromuscul Disord on March 01, 2003
GFAP and its role in Alexander disease. Exp Cell Res (2007) 1.66
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest (2009) 1.63
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord (2007) 1.35
Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy. Proc Natl Acad Sci U S A (2004) 1.29
Desminopathies: pathology and mechanisms. Acta Neuropathol (2012) 1.17
Intermediate filament diseases: desminopathy. Adv Exp Med Biol (2008) 1.11
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D. Neth Heart J (2012) 0.99
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants. J Biol Chem (2012) 0.99
The sarcomeric Z-disc and Z-discopathies. J Biomed Biotechnol (2011) 0.99
Insights into the beaded filament of the eye lens. Exp Cell Res (2007) 0.91
A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization. FASEB J (2008) 0.86
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet J Rare Dis (2014) 0.84
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. Skelet Muscle (2013) 0.83
Distal myopathies. Neurol Clin (2014) 0.80
Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain. Eur Neurol (2012) 0.78
Phosphorylation of NBR1 by GSK3 modulates protein aggregation. Autophagy (2014) 0.78
Two desmin gene mutations associated with myofibrillar myopathies in Polish families. PLoS One (2014) 0.78
Nebulin binding impedes mutant desmin filament assembly. Mol Biol Cell (2013) 0.78
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. J Neuromuscul Dis (2017) 0.75
A mammalian microRNA expression atlas based on small RNA library sequencing. Cell (2007) 34.03
Characterization of human embryonic stem cell lines by the International Stem Cell Initiative. Nat Biotechnol (2007) 9.36
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
Direct priming of antiviral CD8+ T cells in the peripheral interfollicular region of lymph nodes. Nat Immunol (2008) 2.52
Thymic output generates a new and diverse TCR repertoire after autologous stem cell transplantation in multiple sclerosis patients. J Exp Med (2005) 2.30
Analysis of the H19ICR insulator. Mol Cell Biol (2007) 2.29
Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. Anesthesiology (2011) 2.14
Hsp27 (HspB1) and alphaB-crystallin (HspB5) as therapeutic targets. FEBS Lett (2007) 2.02
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87
Stat3 promotes metastatic progression of prostate cancer. Am J Pathol (2008) 1.85
GFP expression in muscle cells impairs actin-myosin interactions: implications for cell therapy. Nat Methods (2006) 1.83
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol (2010) 1.81
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain (2005) 1.63
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol (2006) 1.62
Toward xeno-free culture of human embryonic stem cells. Int J Biochem Cell Biol (2006) 1.61
Adult murine skeletal muscle contains cells that can differentiate into beating cardiomyocytes in vitro. PLoS Biol (2005) 1.60
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. Anesthesiology (2004) 1.55
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve (2003) 1.50
Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population. Hum Genet (2003) 1.39
Trauma, systemic inflammatory response syndrome, dietary supplements, illicit steroid use and a questionable malignant hyperthermia reaction. Anesth Analg (2009) 1.38
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
Myotilinopathy: refining the clinical and myopathological phenotype. Brain (2005) 1.37
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord (2007) 1.35
The exception that reinforces the rule: crosspriming by cytosolic peptides that escape degradation. Immunity (2008) 1.30
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain (2006) 1.29
Forebrain-specific neuronal inhibition of nuclear factor-kappaB activity leads to loss of neuroprotection. J Neurosci (2003) 1.28
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 1.26
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Compartmentalized MHC class I antigen processing enhances immunosurveillance by circumventing the law of mass action. Proc Natl Acad Sci U S A (2010) 1.25
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat (2007) 1.24
Arterial thrombosis induced by IVIg and its treatment with tPA. Neurology (2003) 1.24
Transcription factor Stat5 synergizes with androgen receptor in prostate cancer cells. Cancer Res (2008) 1.21
Sympathetic nervous system control of anti-influenza CD8+ T cell responses. Proc Natl Acad Sci U S A (2009) 1.17
Stat5 promotes metastatic behavior of human prostate cancer cells in vitro and in vivo. Endocr Relat Cancer (2010) 1.16
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat (2006) 1.14
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet (2003) 1.13
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain (2012) 1.12
Transcription factor Stat3 stimulates metastatic behavior of human prostate cancer cells in vivo, whereas Stat5b has a preferential role in the promotion of prostate cancer cell viability and tumor growth. Am J Pathol (2010) 1.11
Intermediate filament diseases: desminopathy. Adv Exp Med Biol (2008) 1.11
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology (2005) 1.10
Cutting edge: Sympathetic nervous system increases proinflammatory cytokines and exacerbates influenza A virus pathogenesis. J Immunol (2009) 1.10
Cell signaling pathways to alphaB-crystallin following stresses of the cytoskeleton. Exp Cell Res (2006) 1.10
Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions. Emerg Infect Dis (2007) 1.08
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol (2013) 1.07
Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. Ann Neurol (2002) 1.07
Viliuisk encephalomyelitis: intrathecal synthesis of oligoclonal IgG. J Neurol Sci (2003) 1.06
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Hum Mol Genet (2005) 1.06
Conditional ablation of nonmuscle myosin II-B delineates heart defects in adult mice. Circ Res (2009) 1.03
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. J Neurol (2004) 1.03
Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. Circulation (2006) 1.02
Defective ribosomal products are the major source of antigenic peptides endogenously generated from influenza A virus neuraminidase. J Immunol (2009) 1.02
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord (2008) 1.02
Myopathy-associated alphaB-crystallin mutants: abnormal phosphorylation, intracellular location, and interactions with other small heat shock proteins. J Biol Chem (2007) 1.02
Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina. Mol Vis (2012) 1.02
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Lett (2005) 1.00
Residue R120 is essential for the quaternary structure and functional integrity of human alphaB-crystallin. Biochemistry (2007) 1.00
Contribution of hepatic lineage stage-specific donor memory to the differential potential of induced mouse pluripotent stem cells. Stem Cells (2012) 1.00
Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants. FASEB J (2006) 1.00
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord (2011) 0.99
Critical role of NADPH oxidase-derived reactive oxygen species in generating Ca2+ oscillations in human aortic endothelial cells stimulated by histamine. J Biol Chem (2002) 0.99
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. Neuromuscul Disord (2010) 0.98
Accumulation of autophagosomes in breast cancer cells induces TRAIL resistance through downregulation of surface expression of death receptors 4 and 5. Oncotarget (2013) 0.97
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet (2008) 0.97