PubRank

Stefano Di Donato

Author PubWeight™ 29.47‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 2010 2.66
2 Mitochondrial disorders. Brain 2004 2.32
3 Dysfunction of the cholesterol biosynthetic pathway in Huntington's disease. J Neurosci 2005 1.68
4 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
5 Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease. Brain 2008 1.16
6 Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum 2008 1.13
7 Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation. Hum Mol Genet 2007 1.13
8 SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 2005 1.09
9 The therapeutic potential of neural stem/progenitor cells in murine globoid cell leukodystrophy is conditioned by macrophage/microglia activation. Neurobiol Dis 2005 1.08
10 Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington's disease. Neurobiol Dis 2007 1.08
11 Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet 2012 1.05
12 Brain-derived neurotrophic factor in patients with Huntington's disease. PLoS One 2011 1.04
13 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004 1.03
14 The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet 2004 0.99
15 Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics 2011 0.97
16 Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data. Genome Biol 2010 0.97
17 The influence of gender on phenotype and disease progression in patients with Huntington's disease. Parkinsonism Relat Disord 2012 0.94
18 Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol 2007 0.92
19 An overview of the patient with ataxia. J Neurol 2005 0.88
20 Severe deficiency of the fatty acid amide hydrolase (FAAH) activity segregates with the Huntington's disease mutation in peripheral lymphocytes. Neurobiol Dis 2007 0.87
21 Analysis of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy of non-neuronal genes in peripheral lymphocytes from patients with Huntington's disease. Brain Pathol 2008 0.85
22 Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Hum Genet 2012 0.83
23 Plasma 24S-hydroxycholesterol correlation with markers of Huntington disease progression. Neurobiol Dis 2013 0.81
24 Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia. Eur Neurol 2009 0.81
25 Pitfalls in the detection of cholesterol in Huntington's disease models. PLoS Curr 2012 0.80
26 Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics 2013 0.77
27 Spinocerebellar ataxia type 28. Handb Clin Neurol 2012 0.75