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    Article

    Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

    Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 6...

    Niamh Mullins, Andreas J. Forstner, Kevin S. O’Connell, Brandon Coombes in Nature Genetics (2021)

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    Article

    Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

    The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architect...

    Ruth Chia, Marya S. Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar in Nature Genetics (2021)

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    Article

    Genome-wide association study identifies 30 loci associated with bipolar disorder

    Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 v...

    Eli A. Stahl, Gerome Breen, Andreas J. Forstner, Andrew McQuillin in Nature Genetics (2019)

  4. Article

    Open Access

    Gene expression meta-analysis of Parkinson’s disease and its relationship with Alzheimer’s disease

    Parkinson’s disease (PD) and Alzheimer’s disease (AD) are the most common neurodegenerative diseases and have been suggested to share common pathological and physiological links. Understanding the cross-talk b...

    Jack Kelly, Rana Moyeed, Camille Carroll, Diego Albani, **nzhong Li in Molecular Brain (2019)

  5. Article

    Open Access

    Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H

    The typical familial form of Alzheimer’s disease (FAD) accounts for about 5% of total Alzheimer’s disease (AD) cases. Presenilins (PSEN1 and PSEN2) and amyloid-β (A4) precursor protein (APP) genes carry all repor...

    Lara Paracchini, Luca Beltrame, Lucia Boeri in Alzheimer's Research & Therapy (2018)

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    Article

    Hot Genes in Schizophrenia: How Clinical Datasets Could Help to Refine their Role

    We investigated the effect of a set of SNPs within 5 genes identified by GWASs as possible risk genes for schizophrenia (SCZ) in two independent samples, comprising 176 SCZ patients and 326 controls of Korean ...

    Stefano Porcelli, Soo-Jung Lee, Changsu Han in Journal of Molecular Neuroscience (2018)

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    Article

    Genetic Variants Within Molecular Targets of Antipsychotic Treatment: Effects on Treatment Response, Schizophrenia Risk, and Psychopathological Features

    Schizophrenia (SCZ) is a common and severe mental disorder. Genetic factors likely play a role in its pathophysiology as well as in treatment response. In the present study, we investigated the effects of seve...

    Marco Calabrò, Stefano Porcelli, Concetta Crisafulli in Journal of Molecular Neuroscience (2018)

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    Article

    Rosuvastatin and Thapsigargin Modulate γ-Secretase Gene Expression and APP Processing in a Human Neuroglioma Model

    Alzheimer's disease (AD) is a progressive neurodegenerative disorder leading to slow neuronal loss in several brain regions. It is characterised by the presence of cerebral senile plaques comprised of aggregat...

    Alessio Crestini, Paola Piscopo in Journal of Molecular Neuroscience (2011)

  9. Article

    Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

    Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder characterized by behavioral and language disturbances. We performed a case-control association study in the Italian populati...

    Diego Albani, Francesca Prato, Chiara Fenoglio, Sara Batelli in Journal of Human Genetics (2008)