Published in Neurosci Lett on October 25, 2008
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Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A (2008) 5.37
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Male infertility: role of genetic background. Reprod Biomed Online (2007) 2.19
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SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. J Neurol (2005) 1.30
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Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci (2012) 1.21
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The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. J Alzheimers Dis (2010) 1.19
Pleiotropic effects of spastin on neurite growth depending on expression levels. J Neurochem (2009) 1.18
Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity. J Peripher Nerv Syst (2006) 1.15
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet (2005) 1.15
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve (2010) 1.15
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Concern-driven integrated approaches to nanomaterial testing and assessment--report of the NanoSafety Cluster Working Group 10. Nanotoxicology (2013) 1.10
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol (2013) 1.09
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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One (2013) 1.07
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet (2010) 1.06
Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. AJNR Am J Neuroradiol (2003) 1.05
POLG1-related and other "mitochondrial Parkinsonisms": an overview. J Mol Neurosci (2011) 1.05
Intravenous grafts of amniotic fluid-derived stem cells induce endogenous cell proliferation and attenuate behavioral deficits in ischemic stroke rats. PLoS One (2012) 1.05
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain (2013) 1.05
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? Neurosci Lett (2004) 1.04
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. Invest Ophthalmol Vis Sci (2002) 1.04
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mutat (2005) 1.03
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat (2003) 1.02
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Phenotype modulators in myophosphorylase deficiency. Ann Neurol (2003) 1.02
Deletion of chromosome 21 disturbs human brain morphogenesis. Genet Med (2006) 1.02
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics (2011) 1.02
DNA damage and repair in Alzheimer's disease. Curr Alzheimer Res (2009) 1.02
Functional interleukin-7/interleukin-7Ralpha, and SDF-1alpha/CXCR4 are expressed by human periodontal ligament derived mesenchymal stem cells. J Cell Physiol (2008) 1.01
Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion. BMC Genomics (2010) 1.01
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics (2006) 1.01
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord (2009) 1.01
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. Neurobiol Aging (2011) 1.00
Application of MLPA assay to characterize unsolved α-globin gene rearrangements. Blood Cells Mol Dis (2010) 1.00
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
Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol (2015) 0.98
Amniotic fluid as a rich source of mesenchymal stromal cells for transplantation therapy. Cell Transplant (2010) 0.97
The lack of epithelial interleukin-7 and BAFF/BLyS gene expression in prostate cancer as a possible mechanism of tumor escape from immunosurveillance. Clin Cancer Res (2009) 0.97
Genetics of syndromic and nonsyndromic cleft lip and palate. J Craniofac Surg (2011) 0.97
Genotoxic and epigenetic mechanisms in arsenic carcinogenicity. Arch Toxicol (2014) 0.97
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol (2005) 0.96
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation. J Neurol (2009) 0.96
Comparison study of MS-HRM and pyrosequencing techniques for quantification of APC and CDKN2A gene methylation. PLoS One (2013) 0.95
The role of mitochondria in stem cell biology. Biosci Rep (2007) 0.95
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population. J Med Genet (2006) 0.94
Epigenetic effects of nano-sized materials. Toxicology (2012) 0.94
Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease. Exp Neurol (2003) 0.94
DNA repair in premature aging disorders and neurodegeneration. Curr Aging Sci (2010) 0.94
Obesity and diabetes: from genetics to epigenetics. Mol Biol Rep (2015) 0.92
Absence of angiogenic genes modification in Italian ALS patients. Neurobiol Aging (2006) 0.92
Mitochondrial DNA sequence variation and neurodegeneration. Hum Genomics (2008) 0.91
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. J Neurol (2002) 0.91
Molecular effects of fermented papaya preparation on oxidative damage, MAP Kinase activation and modulation of the benzo[a]pyrene mediated genotoxicity. Biofactors (2006) 0.90
Wnt signaling behaves as a "master regulator" in the osteogenic and adipogenic commitment of human amniotic fluid mesenchymal stem cells. Stem Cell Rev (2013) 0.90
Amniotic fluid stem cells: a promising therapeutic resource for cell-based regenerative therapy. Curr Pharm Des (2012) 0.90
Clinical features and pathogenesis of Alzheimer's disease: involvement of mitochondria and mitochondrial DNA. Adv Exp Med Biol (2010) 0.90
Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. Hum Mutat (2002) 0.90
Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls. Antioxid Redox Signal (2011) 0.90