Published in Exp Neurol on March 13, 2009
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On the value of probability for evaluating results of comparative pattern analyses. Forensic Sci Int (2013) 1.93
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Intracerebroventricular amyloid-beta antibodies reduce cerebral amyloid angiopathy and associated micro-hemorrhages in aged Tg2576 mice. Proc Natl Acad Sci U S A (2009) 1.37
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity. Neurobiol Dis (2012) 1.35
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia. Hum Mol Genet (2008) 1.30
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Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain (2003) 1.26
Visual system involvement in patients with Friedreich's ataxia. Brain (2008) 1.25
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics (2007) 1.25
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells. Hum Mol Genet (2005) 1.23
The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease. Mol Neurodegener (2009) 1.23
Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy. Exp Neurol (2008) 1.21
Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ann Neurol (2010) 1.20
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci (2007) 1.20
Reply to Budowle, Ge, Chakraborty and Gill-King: use of prior odds for missing persons identifications. Investig Genet (2012) 1.19
Pleiotropic effects of spastin on neurite growth depending on expression levels. J Neurochem (2009) 1.18
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum (2008) 1.13
Frataxin, iron-sulfur clusters, heme, ROS, and aging. Antioxid Redox Signal (2006) 1.12
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells. Hum Mol Genet (2003) 1.09
Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature. J Neurol (2009) 1.09
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain (2005) 1.09
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics (2005) 1.06
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Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities. J Neurol Sci (2009) 1.03
Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia (2006) 1.03
Schizencephaly: clinical spectrum, epilepsy, and pathogenesis. J Child Neurol (2005) 1.01
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord (2004) 1.01
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet (2006) 1.00
Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics (2007) 1.00
Widespread suppression of huntingtin with convection-enhanced delivery of siRNA. Exp Neurol (2011) 1.00
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. J Neurol Neurosurg Psychiatry (2012) 1.00
The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet (2004) 0.99
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
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging (2012) 0.98
Does parkin play a role in the peripheral nervous system? A family report. Mov Disord (2004) 0.97
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics (2011) 0.97
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. Hum Mol Genet (2003) 0.97
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. J Neurol Sci (2010) 0.96
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn (2004) 0.95
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The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment. Am J Med Genet B Neuropsychiatr Genet (2010) 0.94
No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. Neurobiol Aging (2009) 0.94
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. Orphanet J Rare Dis (2012) 0.93
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol (2007) 0.92
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. J Child Neurol (2008) 0.92
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. Am J Med Genet A (2008) 0.92
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat (2004) 0.92
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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet J Rare Dis (2013) 0.91
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. Neuromuscul Disord (2002) 0.90
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The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. Brain (2007) 0.84
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. Eur J Pediatr (2006) 0.83
Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype. J Peripher Nerv Syst (2006) 0.82
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An optimized method for manufacturing a clinical scale dendritic cell-based vaccine for the treatment of glioblastoma. PLoS One (2012) 0.81
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J Mol Diagn (2006) 0.81
Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis. Neurobiol Aging (2013) 0.81
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun (2012) 0.81
Essential tremor is not associated with alpha-synuclein gene haplotypes. Mov Disord (2003) 0.80
Evaluation of a simplified method of the conduction system analysis in 110 forensic cases. Forensic Sci Int (2002) 0.80
Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. Neurobiol Dis (2003) 0.80
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A graphical model for the evaluation of cross-transfer evidence in DNA profiles. Theor Popul Biol (2003) 0.79
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A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J Neuroimmunol (2003) 0.79