Published in Brain on June 09, 2005
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Myofibrillar myopathies. Neuromuscul Disord (2011) 1.45
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
Distinct muscle imaging patterns in myofibrillar myopathies. Neurology (2008) 1.41
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol (2012) 1.35
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord (2007) 1.35
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Dynamic regulation of sarcomeric actin filaments in striated muscle. Cytoskeleton (Hoboken) (2010) 1.17
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain (2012) 1.12
Intermediate filament diseases: desminopathy. Adv Exp Med Biol (2008) 1.11
Caenorhabditis elegans kettin, a large immunoglobulin-like repeat protein, binds to filamentous actin and provides mechanical stability to the contractile apparatuses in body wall muscle. Mol Biol Cell (2006) 1.01
Myofibrillar myopathies. Curr Opin Neurol (2008) 1.00
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol (2006) 1.00
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. Neuromuscul Disord (2014) 0.91
Myofibrillar myopathies: new developments. Curr Opin Neurol (2013) 0.89
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy. Am J Pathol (2007) 0.87
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy. Ann Neurol (2011) 0.87
UNC-87, a calponin-related protein in C. elegans, antagonizes ADF/cofilin-mediated actin filament dynamics. J Cell Sci (2007) 0.86
Orai1 deficiency leads to heart failure and skeletal myopathy in zebrafish. J Cell Sci (2012) 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
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromuscul Disord (2015) 0.83
Lower limb radiology of distal myopathy due to the S60F myotilin mutation. Eur Neurol (2009) 0.80
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol (2011) 0.80
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? J Neurol Sci (2008) 0.79
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies. Curr Gene Ther (2012) 0.79
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice. Mol Ther Nucleic Acids (2014) 0.78
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. Acta Neuropathol Commun (2016) 0.78
Predicting whole genome protein interaction networks from primary sequence data in model and non-model organisms using ENTS. BMC Genomics (2013) 0.78
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. Acta Neuropathol (2016) 0.77
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. Eur Radiol (2008) 0.76
Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics (2014) 0.76
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. J Neuromuscul Dis (2017) 0.75
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains. Sci Rep (2017) 0.75
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
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
Beneficial effect of human anti-amyloid-beta active immunization on neurite morphology and tau pathology. Brain (2010) 2.33
Abeta species removal after abeta42 immunization. J Neuropathol Exp Neurol (2006) 2.25
Chaperone-mediated autophagy markers in Parkinson disease brains. Arch Neurol (2010) 2.12
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87
Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe Consortium. Brain Pathol (2008) 1.85
Neuronal induction of the immunoproteasome in Huntington's disease. J Neurosci (2003) 1.83
Neuromuscular imaging in inherited muscle diseases. Eur Radiol (2010) 1.79
Amyloid-beta peptide remnants in AN-1792-immunized Alzheimer's disease patients: a biochemical analysis. Am J Pathol (2006) 1.73
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet (2010) 1.70
Autoantibodies against beta-amyloid are common in Alzheimer's disease and help control plaque burden. Ann Neurol (2009) 1.65
Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells. Proc Natl Acad Sci U S A (2009) 1.64
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
Interlaboratory comparison of assessments of Alzheimer disease-related lesions: a study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol (2006) 1.56
Prognostic significance of O6-methylguanine-DNA methyltransferase determined by promoter hypermethylation and immunohistochemical expression in anaplastic gliomas. Clin Cancer Res (2005) 1.53
Management of a twenty-first century brain bank: experience in the BrainNet Europe consortium. Acta Neuropathol (2008) 1.51
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
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
Effects of antemortem and postmortem variables on human brain mRNA quality: a BrainNet Europe study. J Neuropathol Exp Neurol (2010) 1.36
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord (2007) 1.35
Consensus classification of human prion disease histotypes allows reliable identification of molecular subtypes: an inter-rater study among surveillance centres in Europe and USA. Acta Neuropathol (2012) 1.29
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain (2006) 1.29
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 1.26
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system. Brain Res (2003) 1.25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat (2007) 1.24
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain (2008) 1.21
Mixed brain pathologies in dementia: the BrainNet Europe consortium experience. Dement Geriatr Cogn Disord (2008) 1.17
Staging/typing of Lewy body related alpha-synuclein pathology: a study of the BrainNet Europe Consortium. Acta Neuropathol (2009) 1.17
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord (2003) 1.17
TaqMan PCR assay in the control of RNA normalization in human post-mortem brain tissue. Neurochem Int (2006) 1.15
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat (2006) 1.14
Inter-laboratory comparison of neuropathological assessments of beta-amyloid protein: a study of the BrainNet Europe consortium. Acta Neuropathol (2008) 1.13
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
Accelerated amyloid deposition, neurofibrillary degeneration and neuronal loss in double mutant APP/tau transgenic mice. Neurobiol Dis (2005) 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
Assessment of alpha-synuclein pathology: a study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol (2008) 1.08
Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions. Emerg Infect Dis (2007) 1.08
DNA chip technology in brain banks: confronting a degrading world. J Neuropathol Exp Neurol (2004) 1.08
Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. J Neurol (2012) 1.07
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
Up-regulation of adenosine receptors in the frontal cortex in Alzheimer's disease. Brain Pathol (2008) 1.06
Biochemical, ultrastructural, and reversibility studies on huntingtin filaments isolated from mouse and human brain. J Neurosci (2004) 1.04
Quantitative MRI can detect subclinical disease progression in muscular dystrophy. J Neurol (2012) 1.03
Human brain cortex: mitochondrial oxidative damage and adaptive response in Parkinson disease and in dementia with Lewy bodies. Free Radic Biol Med (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
Quantification of fat infiltration in oculopharyngeal muscular dystrophy: comparison of three MR imaging methods. J Magn Reson Imaging (2011) 1.03
Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. Circulation (2006) 1.02
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord (2008) 1.02
Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry (2007) 1.01
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Lett (2005) 1.00
Increased sensitivity to MPTP in human alpha-synuclein A30P transgenic mice. Neurobiol Aging (2005) 0.99
Mitochondrial ATP-synthase in the entorhinal cortex is a target of oxidative stress at stages I/II of Alzheimer's disease pathology. Brain Pathol (2009) 0.99
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord (2011) 0.99
Impaired metabotropic glutamate receptor/phospholipase C signaling pathway in the cerebral cortex in Alzheimer's disease and dementia with Lewy bodies correlates with stage of Alzheimer's-disease-related changes. Neurobiol Dis (2005) 0.98
Identification and characterization of a new alpha-synuclein isoform and its role in Lewy body diseases. Neurogenetics (2007) 0.98
Reduced ubiquitin C-terminal hydrolase-1 expression levels in dementia with Lewy bodies. Neurobiol Dis (2005) 0.98
Differential expression of alpha-synuclein, parkin, and synphilin-1 isoforms in Lewy body disease. Neurogenetics (2008) 0.98
Immunotherapy for neurological diseases. Clin Immunol (2008) 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
TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brains. Hum Mol Genet (2010) 0.97
Nogo-A expression in the human hippocampus in normal aging and in Alzheimer disease. J Neuropathol Exp Neurol (2006) 0.96
Diminished perisomatic GABAergic terminals on cortical neurons adjacent to amyloid plaques. Front Neuroanat (2009) 0.95
Assessing quantitative post-mortem changes in the gray matter of the human frontal cortex proteome by 2-D DIGE. Proteomics (2008) 0.95
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci (2004) 0.95
Cell stress induces TDP-43 pathological changes associated with ERK1/2 dysfunction: implications in ALS. Acta Neuropathol (2011) 0.94
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation. Neuromuscul Disord (2006) 0.93
Novel ruthenium-based metathesis catalysts containing electron-withdrawing ligands: synthesis, immobilization, and reactivity. J Org Chem (2005) 0.93
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet (2003) 0.93
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation. Acta Neuropathol (2005) 0.93
Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol (2012) 0.93
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. Neuromuscul Disord (2009) 0.92