Published in J Biol Chem on March 16, 2012
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron (2013) 3.63
RNA in unexpected places: long non-coding RNA functions in diverse cellular contexts. Nat Rev Mol Cell Biol (2013) 3.47
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat Neurosci (2012) 2.93
Stress granules as crucibles of ALS pathogenesis. J Cell Biol (2013) 2.80
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. Neuron (2014) 1.63
Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions. Sci Rep (2012) 1.58
Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain. Sci Rep (2012) 1.54
Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem (2012) 1.43
RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations. Hum Mol Genet (2012) 1.19
Long non-coding RNA gadd7 interacts with TDP-43 and regulates Cdk6 mRNA decay. EMBO J (2012) 1.19
GraphProt: modeling binding preferences of RNA-binding proteins. Genome Biol (2014) 1.12
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. Nat Commun (2015) 1.09
ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. PLoS Genet (2013) 1.07
RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci (2012) 1.07
The expression levels of microRNA-361-5p and its target VEGFA are inversely correlated in human cutaneous squamous cell carcinoma. PLoS One (2012) 1.04
Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS. Exp Neurol (2014) 1.03
RNA-binding proteins in neurodegeneration: Seq and you shall receive. Trends Neurosci (2015) 1.03
Amyotrophic lateral sclerosis-linked FUS/TLS alters stress granule assembly and dynamics. Mol Neurodegener (2013) 1.00
Tat-activating regulatory DNA-binding protein regulates glycolysis in hepatocellular carcinoma by regulating the platelet isoform of phosphofructokinase through microRNA 520. Hepatology (2013) 0.96
FUS/TLS assembles into stress granules and is a prosurvival factor during hyperosmolar stress. J Cell Physiol (2013) 0.96
The Function of Autophagy in Neurodegenerative Diseases. Int J Mol Sci (2015) 0.95
Functions of FUS/TLS from DNA repair to stress response: implications for ALS. ASN Neuro (2014) 0.95
The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids. Nucleic Acids Res (2014) 0.86
Characterizing TDP-43 interaction with its RNA targets. Nucleic Acids Res (2013) 0.86
Astrocytic TDP-43 pathology in Alexander disease. J Neurosci (2014) 0.85
The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons. FEBS Open Bio (2013) 0.83
Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.83
The function of RNA-binding proteins at the synapse: implications for neurodegeneration. Cell Mol Life Sci (2015) 0.83
TDP-43 and FUS/TLS yield a target-rich haul in ALS. Nat Neurosci (2012) 0.81
Axonal transport defects are a common phenotype in Drosophila models of ALS. Hum Mol Genet (2016) 0.80
A deep learning framework for modeling structural features of RNA-binding protein targets. Nucleic Acids Res (2015) 0.80
A loss of FUS/TLS function leads to impaired cellular proliferation. Cell Death Dis (2014) 0.80
TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways. Nucleic Acids Res (2015) 0.79
Structural disorder and the loss of RNA homeostasis in aging and neurodegenerative disease. Front Genet (2013) 0.79
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis. Brain Res (2016) 0.79
TDP-43 regulates β-adducin (Add2) transcript stability. RNA Biol (2014) 0.78
TDP-43 suppresses tau expression via promoting its mRNA instability. Nucleic Acids Res (2017) 0.78
Dysregulated axonal RNA translation in amyotrophic lateral sclerosis. Wiley Interdiscip Rev RNA (2016) 0.77
A network of RNA and protein interactions in Fronto Temporal Dementia. Front Mol Neurosci (2015) 0.77
RNA-binding proteins implicated in neurodegenerative diseases. Wiley Interdiscip Rev RNA (2016) 0.76
The extreme N-terminus of TDP-43 mediates the cytoplasmic aggregation of TDP-43 and associated toxicity in vivo. Brain Res (2016) 0.76
EWS and FUS bind a subset of transcribed genes encoding proteins enriched in RNA regulatory functions. BMC Genomics (2015) 0.76
Early lethality and neuronal proteinopathy in mice expressing cytoplasm-targeted FUS that lacks the RNA recognition motif. Amyotroph Lateral Scler Frontotemporal Degener (2015) 0.76
FUS/TLS contributes to replication-dependent histone gene expression by interaction with U7 snRNPs and histone-specific transcription factors. Nucleic Acids Res (2015) 0.76
Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity. Acta Neuropathol (2016) 0.75
Cerebrospinal fluid from patients with amyotrophic lateral sclerosis inhibits sonic hedgehog function. PLoS One (2017) 0.75
Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis. Front Cell Neurosci (2017) 0.75
ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1. Cell Death Discov (2015) 0.75
The "Jekyll and Hyde" Actions of Nucleic Acids on the Prion-like Aggregation of Proteins. J Biol Chem (2016) 0.75
The binding specificity of Translocated in LipoSarcoma/FUsed in Sarcoma with lncRNA transcribed from the promoter region of cyclin D1. Cell Biosci (2016) 0.75
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder. EMBO J (2017) 0.75
Intrinsically disordered RGG/RG domains mediate degenerate specificity in RNA binding. Nucleic Acids Res (2017) 0.75
Genetic mutations in RNA-binding proteins and their roles in ALS. Hum Genet (2017) 0.75
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
MEME: discovering and analyzing DNA and protein sequence motifs. Nucleic Acids Res (2006) 15.32
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun (2006) 10.69
RNA regulons: coordination of post-transcriptional events. Nat Rev Genet (2007) 10.12
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31
Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription. Nature (2008) 7.18
MEME-ChIP: motif analysis of large DNA datasets. Bioinformatics (2011) 6.52
Stress granules: the Tao of RNA triage. Trends Biochem Sci (2008) 6.27
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci (2011) 6.01
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet (2010) 5.75
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature (2010) 5.26
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci (2011) 5.24
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem (2001) 4.87
Hypoxic stabilization of vascular endothelial growth factor mRNA by the RNA-binding protein HuR. J Biol Chem (1998) 4.57
Mutations of optineurin in amyotrophic lateral sclerosis. Nature (2010) 4.54
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet (2003) 4.19
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol (2010) 3.92
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J (2010) 3.58
Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function. J Mol Biol (2005) 3.33
Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol (2008) 2.91
TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor. J Neurochem (2007) 2.91
TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J (2010) 2.90
Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci (2008) 2.79
TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol Cell Neurosci (2007) 2.75
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. Hum Mol Genet (2010) 2.75
Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes. J Biol Chem (2010) 2.72
Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS. PLoS Biol (2011) 2.70
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
TDP-43 is recruited to stress granules in conditions of oxidative insult. J Neurochem (2009) 2.57
The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology. Curr Biol (2005) 2.53
Translational control of localized mRNAs: restricting protein synthesis in space and time. Nat Rev Mol Cell Biol (2008) 2.50
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet (2008) 2.48
Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Curr Opin Neurobiol (2011) 2.48
RNA targets of wild-type and mutant FET family proteins. Nat Struct Mol Biol (2011) 2.46
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J (2009) 2.37
UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs. Nucleic Acids Res (2009) 2.11
Identification of an RNA binding specificity for the potential splicing factor TLS. J Biol Chem (2000) 2.10
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat (2009) 2.05
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nat Genet (2005) 1.99
TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines. J Cell Sci (2005) 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
Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA. J Biol Chem (2010) 1.76
The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation. RNA Biol (2010) 1.66
Nuclear localization sequence of FUS and induction of stress granules by ALS mutants. Neurobiol Aging (2010) 1.62
The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span. J Clin Invest (2011) 1.62
Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology (2008) 1.56
A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum Mol Genet (2011) 1.47
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS. Mol Cell Neurosci (2011) 1.38
TDP-43 and FUS: a nuclear affair. Trends Neurosci (2011) 1.35
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res (2005) 1.29
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am J Med Genet B Neuropsychiatr Genet (2011) 1.26
Delocalization of the multifunctional RNA splicing factor TLS/FUS in hippocampal neurones: exclusion from the nucleus and accumulation in dendritic granules and spine heads. Neurosci Lett (2005) 1.26
Dr. Jekyll and Mr. Hyde: The Two Faces of the FUS/EWS/TAF15 Protein Family. Sarcoma (2010) 1.11
MicroRNA-29b regulates the expression level of human progranulin, a secreted glycoprotein implicated in frontotemporal dementia. PLoS One (2010) 1.11
RNA processing pathways in amyotrophic lateral sclerosis. Neurogenetics (2010) 1.08
Post-transcriptional regulation of neuro-oncological ventral antigen 1 by the neuronal RNA-binding proteins ELAV. J Biol Chem (2008) 1.07
Low levels of the vascular endothelial growth factor in CSF from early ALS patients. Neurology (2004) 1.04
FUS/TLS forms cytoplasmic aggregates, inhibits cell growth and interacts with TDP-43 in a yeast model of amyotrophic lateral sclerosis. Protein Cell (2011) 1.00
Progranulin (PGRN) expression in ALS: an immunohistochemical study. J Neurol Sci (2008) 0.95
NVL2 is a nucleolar AAA-ATPase that interacts with ribosomal protein L5 through its nucleolar localization sequence. Mol Biol Cell (2004) 0.95
Progranulin: an emerging target for FTLD therapies. Brain Res (2012) 0.90
RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of Amyotrophic lateral sclerosis. Arch Ital Biol (2011) 0.88
VEGF and ALS. Neurosci Res (2008) 0.81
Neural regeneration protein is a novel chemoattractive and neuronal survival-promoting factor. Exp Cell Res (2006) 0.79
Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degeneration. Rejuvenation Res (2008) 0.79
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (2008) 14.09
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci (2008) 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
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci U S A (2009) 3.65
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci (2007) 3.52
Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function. J Mol Biol (2005) 3.33
Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet (2004) 3.26
Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol (2008) 3.13
Influence of RNA secondary structure on the pre-mRNA splicing process. Mol Cell Biol (2004) 3.07
TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J (2010) 2.90
Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci (2008) 2.79
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet (2003) 2.60
TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression. Proc Natl Acad Sci U S A (2008) 2.58
TDP-43 is recruited to stress granules in conditions of oxidative insult. J Neurochem (2009) 2.57
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res (2005) 2.55
Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior. FEBS Lett (2009) 2.48
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet (2004) 2.35
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem (2003) 2.34
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. Eur J Neurol (2011) 2.27
Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan. J Cell Biol (2003) 2.16
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A (2005) 2.12
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature (2012) 2.08
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2009) 2.03
An essential role for fibronectin extra type III domain A in pulmonary fibrosis. Am J Respir Crit Care Med (2007) 1.91
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet (2009) 1.79
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res (2009) 1.77
Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS. FEBS Lett (2008) 1.76
A new type of mutation causes a splicing defect in ATM. Nat Genet (2002) 1.74
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71
Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol (2007) 1.70
Prothrombotic effects of fibronectin isoforms containing the EDA domain. Arterioscler Thromb Vasc Biol (2007) 1.66
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet (2002) 1.57
Neurotoxic effects of TDP-43 overexpression in C. elegans. Hum Mol Genet (2010) 1.56
Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene. J Cell Biol (2010) 1.55
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol Cell Biol (2004) 1.54
Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study. Muscle Nerve (2011) 1.54
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet (2005) 1.53
Metalloproteinase alterations in the bone marrow of ALS patients. J Mol Med (Berl) (2010) 1.49
The molecular links between TDP-43 dysfunction and neurodegeneration. Adv Genet (2009) 1.46
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature (2007) 1.46
hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res (2004) 1.45
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett (2006) 1.45
The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS). Hum Mol Genet (2010) 1.42
Promoter architecture modulates CFTR exon 9 skipping. J Biol Chem (2002) 1.41
Carotid artery stenting in patients with acute coronary syndrome: a possible primary therapy for symptomatic carotid stenosis. J Endovasc Ther (2013) 1.40
Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection. Genes Dev (2012) 1.33
Huntington's disease: the current state of research with peripheral tissues. Exp Neurol (2009) 1.32
Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep (2009) 1.32
An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem (2004) 1.31
Guidelines for the preclinical in vivo evaluation of pharmacological active drugs for ALS/MND: report on the 142nd ENMC international workshop. Amyotroph Lateral Scler (2007) 1.27
Genetics of familial Amyotrophic lateral sclerosis. Arch Ital Biol (2011) 1.27
A polar mechanism coordinates different regions of alternative splicing within a single gene. Mol Cell (2005) 1.26
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics (2007) 1.25
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons. J Neurosci (2011) 1.25
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nat Struct Mol Biol (2013) 1.25
TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem Sci (2012) 1.24
Molecular and phenotypic characterization of human amniotic fluid cells and their differentiation potential. Cell Res (2006) 1.23
Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Lett (2008) 1.21
Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ann Neurol (2010) 1.20
Exon and intron definition in pre-mRNA splicing. Wiley Interdiscip Rev RNA (2012) 1.19
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. Eur J Hum Genet (2009) 1.18
SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer. Nucleic Acids Res (2007) 1.17
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia. Hum Mutat (2004) 1.14
Genetic characterization of myeloperoxidase deficiency in Italy. Hum Mutat (2004) 1.14
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol (2010) 1.13
A major fraction of fibronectin present in the extracellular matrix of tissues is plasma-derived. J Biol Chem (2007) 1.13
NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett (2006) 1.12
Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS J (2010) 1.10
Complex splicing control of the human Thrombopoietin gene by intronic G runs. Nucleic Acids Res (2006) 1.09
Aggregation and proteasome: the case of elongated polyglutamine aggregation in spinal and bulbar muscular atrophy. Neurobiol Aging (2006) 1.08
The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidence for a polygenic control of kidney disease progression. Nephrol Dial Transplant (2002) 1.08
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. J Biol Chem (2002) 1.08