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Schizophrenia (SZ) and bipolar disorder (BPD) are two severe psychiatric diseases with a strong genetic component. In agreement with the 'continuum theory', which suggests an overlap between these disorders, the existence of genes that affect simultaneously susceptibility to SZ and BPD has been hypothesized. In this study we performed a 7.5 cM genome scan(More)
Mutations in the prion-like domain (PrLD) of hnRNPA1 and A2/B1 genes were recently identified in 2 families with inclusion body myopathy associated with Paget disease of bone, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis, and in ALS patients. These mutations were shown to increase the propensity of hnRNPA1 and A2/B1 proteins, which are(More)
OBJECTIVE To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). METHODS 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and(More)
  • Rüdiger Glaser, Dirk Riemann, Johannes Schönbein, Mariano Barriendos, Rudolf Brázdil, Chiara Bertolin +28 others
  • 2010
The paper presents a qualitative and quantitative analysis of flood variability and forcing of major European rivers since AD 1500. We compile and investigate flood reconstructions which are based on documentary evidence for twelve Central European rivers and for eight Mediterranean rivers. Flood variability and underlying climatological causes are(More)
  • J Luterbacher, S J Koenig, J Franke, G Van Der Schrier, E Zorita, A Moberg +30 others
  • 2009
We use long instrumental temperature series together with available field reconstructions of sea-level pressure (SLP) and three-dimensional climate model simulations to analyze relations between temperature anomalies and atmospheric circulation patterns over much of Europe and the Mediterranean for the late win-ter/early spring (January–April, JFMA) season.(More)
Mutations in the profilin 1 (PFN1) gene, encoding a protein regulating filamentous actin growth through its binding to monomeric G-actin, have been recently identified in familial amyotrophic lateral sclerosis (ALS). Functional studies performed on ALS-associated PFN1 mutants demonstrated aggregation propensity, alterations in growth cone, and cytoskeletal(More)
Amyotrophic lateral sclerosis (ALS) is as an adult-onset neurodegenerative disorder involving both upper and lower motor neurons. About 5% of all cases exhibit signs of frontotemporal degeneration (FTD). We established the mutation frequency of C9ORF72, SOD1, TARDBP, and FUS genes in 307 patients with sporadic ALS, 46 patients with familial ALS (FALS), and(More)
The Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS) is an established rating instrument used to assess the functional status of patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to validate an Italian version of the scale. We administered the SBMAFRS to sixty SBMA patients during routine follow-up of clinical(More)
BACKGROUND AND PURPOSE Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype. METHODS We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients. RESULTS No relationship between polyG size or(More)