Published in Clin Chim Acta on November 01, 2005
TRIM family proteins and their emerging roles in innate immunity. Nat Rev Immunol (2008) 4.21
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Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest (2012) 1.08
Tripartite motif ligases catalyze polyubiquitin chain formation through a cooperative allosteric mechanism. J Biol Chem (2013) 0.96
Laminin-211 in skeletal muscle function. Cell Adh Migr (2012) 0.92
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Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure. Genet Mol Biol (2010) 0.77
Atypical manifestation of late onset limb girdle muscular dystrophy presenting with recurrent falling and shoulder dysfunction: a case report. Cases J (2008) 0.75
Intron size in mammals: complexity comes to terms with economy. Trends Genet (2006) 4.93
Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity. Stem Cells (2005) 2.67
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. J Exp Med (2009) 2.00
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet (2006) 1.87
Vascular endothelial growth factor gene variability is associated with increased risk for AD. Ann Neurol (2005) 1.66
Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res (2004) 1.65
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms. Exp Neurol (2011) 1.59
Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation. Biol Psychiatry (2013) 1.58
Wild-type bone marrow cells ameliorate the phenotype of SOD1-G93A ALS mice and contribute to CNS, heart and skeletal muscle tissues. Brain (2004) 1.52
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy. Sci Transl Med (2012) 1.44
Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve (2014) 1.41
Spinal cord calcification in an early-onset progressive leukoencephalopathy. J Child Neurol (2011) 1.41
Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res (2008) 1.40
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat (2008) 1.39
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest (2008) 1.37
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord (2009) 1.31
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30
Direct reprogramming of human astrocytes into neural stem cells and neurons. Exp Cell Res (2012) 1.26
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathol Commun (2014) 1.18
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol (2008) 1.17
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat (2003) 1.17
Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model. Brain (2007) 1.17
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet (2009) 1.16
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. Hum Mol Genet (2005) 1.16
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16
Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression. Exp Neurol (2007) 1.15
Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences. Hum Mol Genet (2005) 1.15
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain (2009) 1.11
New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol (2006) 1.11
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. J Neurol (2002) 1.09
Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies. J Cell Mol Med (2012) 1.08
Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns. Genome Biol (2006) 1.07
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging (2007) 1.06
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am J Hum Genet (2013) 1.05
Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes. Mol Biol Evol (2010) 1.05
Both selective and neutral processes drive GC content evolution in the human genome. BMC Evol Biol (2008) 1.02
Mitochondrial fusion proteins and human diseases. Neurol Res Int (2013) 1.02
The landscape of human genes involved in the immune response to parasitic worms. BMC Evol Biol (2010) 0.99
Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet (2009) 0.98
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.98
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscul Disord (2007) 0.98
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging (2012) 0.98
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat (2005) 0.96
Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neurosci (2009) 0.95
The signature of long-standing balancing selection at the human defensin beta-1 promoter. Genome Biol (2008) 0.95
Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells. FASEB J (2005) 0.95
The role of protozoa-driven selection in shaping human genetic variability. Trends Genet (2010) 0.94
Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach. PLoS Genet (2010) 0.94
Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients. Pharmacol Res (2012) 0.94
Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics. Trends Genet (2005) 0.93
Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model. Hum Mol Genet (2013) 0.93
A functional variant in ERAP1 predisposes to multiple sclerosis. PLoS One (2012) 0.93
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction. J Neurol Sci (2008) 0.92
Metformin overdose, but not lactic acidosis per se, inhibits oxygen consumption in pigs. Crit Care (2012) 0.92
Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol (2012) 0.91
Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy. Cell Mol Life Sci (2013) 0.90
Improvement of combined FISH and immunofluorescence to trace the fate of somatic stem cells after transplantation. J Histochem Cytochem (2004) 0.90
ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development. Prog Neurobiol (2011) 0.89
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci (2009) 0.89
Molecular research technologies in mitochondrial diseases: the microarray approach. IUBMB Life (2005) 0.89
Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving. BMC Evol Biol (2011) 0.88
Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis. Hum Mol Genet (2010) 0.87
Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids. Nucleic Acids Res (2008) 0.87
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. Neurobiol Aging (2012) 0.87
A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles. Immunity (2013) 0.87
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report. BMC Neurol (2011) 0.86
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. BMC Med Genet (2011) 0.86
Semiquantitative human cerebral perfusion assessment with ultrasound in brain space-occupying lesions: preliminary data. J Ultrasound Med (2008) 0.86
Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation. Cell Mol Life Sci (2014) 0.85
Sodium bicarbonate treatment during transient or sustained lactic acidemia in normoxic and normotensive rats. PLoS One (2012) 0.84
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy. J Neurol Sci (2005) 0.84
A collection of 33 novel human mtDNA homoplasmic variants. Hum Mutat (2002) 0.84
Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). J Cell Mol Med (2014) 0.84
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. J Neurol Sci (2012) 0.84
Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet (2002) 0.83
Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders. Genome Biol (2014) 0.82
Myoclonus in mitochondrial disorders. Mov Disord (2014) 0.82
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype. Hum Genet (2004) 0.82
Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site. Pediatr Neurol (2011) 0.82
Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler (2010) 0.82
Crohn's disease loci are common targets of protozoa-driven selection. Mol Biol Evol (2013) 0.82
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation. Biochem Biophys Res Commun (2011) 0.82
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. Neuromuscul Disord (2009) 0.81
Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients. Neurobiol Aging (2005) 0.81
A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast. FASEB J (2006) 0.81
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis. Hum Genet (2011) 0.81
Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases. Mol Neurobiol (2014) 0.81
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis. Neurobiol Aging (2013) 0.81