Published in Front Mol Neurosci on January 09, 2014
Regulation of human MAPT gene expression. Mol Neurodegener (2015) 0.90
RNA-protein interactions in unstable microsatellite diseases. Brain Res (2014) 0.89
RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis. Front Cell Neurosci (2014) 0.82
Messenger RNA processing is altered in autosomal dominant leukodystrophy. Hum Mol Genet (2015) 0.80
Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets? Neurodegener Dis Manag (2014) 0.78
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories. Neurodegener Dis (2015) 0.78
Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study. Neuroradiol J (2016) 0.77
Rare Cause of Wide QRS Tachycardia. Case Rep Cardiol (2015) 0.75
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS. Front Cell Neurosci (2017) 0.75
Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1. Neuroimage Clin (2016) 0.75
RNA-binding proteins in neurodegeneration: mechanisms in aggregate. Genes Dev (2017) 0.75
Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol (1991) 49.03
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science (2009) 12.99
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell (1992) 12.74
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet (2008) 9.51
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science (1992) 9.32
Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway. J Neurosci (2007) 8.27
Transmission and spreading of tauopathy in transgenic mouse brain. Nat Cell Biol (2009) 7.50
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science (2001) 7.34
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science (1998) 6.67
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J (2000) 6.56
Propagation of tau pathology in a model of early Alzheimer's disease. Neuron (2012) 6.23
CSF markers for incipient Alzheimer's disease. Lancet Neurol (2003) 6.12
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci (2011) 6.01
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol (2007) 5.98
A muscleblind knockout model for myotonic dystrophy. Science (2003) 5.93
Clinicopathologic studies in cognitively healthy aging and Alzheimer's disease: relation of histologic markers to dementia severity, age, sex, and apolipoprotein E genotype. Arch Neurol (1998) 5.93
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci (2011) 5.24
Alzheimer mechanisms and therapeutic strategies. Cell (2012) 5.24
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell (2008) 4.54
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet (2001) 4.48
Essential role for the SMN complex in the specificity of snRNP assembly. Science (2002) 4.42
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet (2006) 4.35
Differential regulation of dynein and kinesin motor proteins by tau. Science (2008) 4.29
RNA-mediated neuromuscular disorders. Annu Rev Neurosci (2006) 4.24
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell (2002) 4.05
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol (1995) 4.04
Muscleblind proteins regulate alternative splicing. EMBO J (2004) 4.01
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem (2005) 3.99
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet (2006) 3.87
The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol (2001) 3.68
Tangle and neuron numbers, but not amyloid load, predict cognitive status in Alzheimer's disease. Neurology (2003) 3.62
Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A (2010) 3.58
Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. Endocr Rev (2009) 3.53
The biochemical pathway of neurofibrillary degeneration in aging and Alzheimer's disease. Neurology (1999) 3.49
Assembly of tau protein into Alzheimer paired helical filaments depends on a local sequence motif ((306)VQIVYK(311)) forming beta structure. Proc Natl Acad Sci U S A (2000) 3.49
Neurofibrillary tangles mediate the association of amyloid load with clinical Alzheimer disease and level of cognitive function. Arch Neurol (2004) 3.39
Multiple-motor based transport and its regulation by Tau. Proc Natl Acad Sci U S A (2006) 3.35
Abeta oligomers induce neuronal oxidative stress through an N-methyl-D-aspartate receptor-dependent mechanism that is blocked by the Alzheimer drug memantine. J Biol Chem (2007) 3.35
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet (2002) 3.34
A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci U S A (2008) 3.33
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell (2007) 3.26
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet (2004) 3.21
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet (2007) 3.11
Hyperphosphorylation induces self-assembly of tau into tangles of paired helical filaments/straight filaments. Proc Natl Acad Sci U S A (2001) 2.97
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol (2008) 2.96
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat Neurosci (2012) 2.93
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. J Hum Genet (2004) 2.89
Whole transcriptome sequencing reveals gene expression and splicing differences in brain regions affected by Alzheimer's disease. PLoS One (2011) 2.80
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science (1993) 2.75
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. Proc Natl Acad Sci U S A (2010) 2.65
Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau. J Cell Biol (1994) 2.61
Structural studies of tau protein and Alzheimer paired helical filaments show no evidence for beta-structure. J Biol Chem (1994) 2.61
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet (1993) 2.42
Biochemistry and cell biology of tau protein in neurofibrillary degeneration. Cold Spring Harb Perspect Med (2012) 2.39
Tau regulates the attachment/detachment but not the speed of motors in microtubule-dependent transport of single vesicles and organelles. J Cell Sci (1999) 2.36
Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet (2010) 2.36
Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery. J Proteome Res (2010) 2.35
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain (2012) 2.33
Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans (2009) 2.32
Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure. J Biol Chem (2001) 2.32
Chaperones increase association of tau protein with microtubules. Proc Natl Acad Sci U S A (2003) 2.32
Brain homogenates from human tauopathies induce tau inclusions in mouse brain. Proc Natl Acad Sci U S A (2013) 2.27
Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol Psychiatry (2013) 2.25
Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing. J Biol Chem (1998) 2.21
Alzheimer-like paired helical filaments and antiparallel dimers formed from microtubule-associated protein tau in vitro. J Cell Biol (1992) 2.20
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest (2007) 2.14
Intranasal insulin administration dose-dependently modulates verbal memory and plasma amyloid-beta in memory-impaired older adults. J Alzheimers Dis (2008) 2.08
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet (2005) 2.08
Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve (2005) 2.06
Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum Mol Genet (2011) 2.05
Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet (2011) 2.02
The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol (2012) 2.01
An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron (2011) 2.00
TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing. J Biol Chem (2008) 1.98
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res (2001) 1.97
An SMN-dependent U12 splicing event essential for motor circuit function. Cell (2012) 1.94
Single-molecule investigation of the interference between kinesin, tau and MAP2c. EMBO J (2002) 1.91
TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes. Proc Natl Acad Sci U S A (2012) 1.91
Control of proton sensitivity of the NMDA receptor by RNA splicing and polyamines. Science (1995) 1.90
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Control of voltage-independent zinc inhibition of NMDA receptors by the NR1 subunit. J Neurosci (1998) 1.86
Alternatively spliced isoforms of the NMDARI receptor subunit. Trends Neurosci (1995) 1.86
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology (2010) 1.84
Astroglia in dementia and Alzheimer's disease. Cell Death Differ (2008) 1.83
Neuronal loss, neurofibrillary tangles and granulovacuolar degeneration in the hippocampus with ageing and dementia. A quantitative study. Acta Neuropathol (1977) 1.80
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron (2012) 1.78
Alzheimer brain-derived tau oligomers propagate pathology from endogenous tau. Sci Rep (2012) 1.77
Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference. Nucleic Acids Res (2011) 1.77
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet (1997) 1.76
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet (2010) 1.76
The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry (2010) 1.71
Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy. Cell Stem Cell (2011) 1.71