The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. In 2015, the database was redesigned and relocated to EMBL-EBI. The new infrastructure includes a new graphical user interface (, ontology supported search functionality and an improved curation interface. These developments have improved the data release frequency by increasing automation of curation and providing scaling improvements. The range of available Catalog data has also been extended with structured ancestry and recruitment information added for all studies. The infrastructure improvements also support scaling for larger arrays, exome and sequencing studies, allowing the Catalog to adapt to the needs of evolving study design, genotyping technologies and user needs in the future.
Source: Nucleic Acids Research - Category: Research Authors: Tags: Database Issue Source Type: research

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Authors: Melchionda D, Varvara G, Perfetto D, Mascolo B, Avolio C Abstract Parkinson's disease (PD), which is not only a motor disease, is one of the most frequent neurodegenerative diseases and affects 1.5-2% of people worldwide. The role of its non motor-symptoms is of first importance on quality of life. Speech impairment is considered a part of motor impairment and is widespread in PD where most frequent speech impairment is Hypokinetic dysarthria, a disorder characterized by reduced articulation movements and phonetic monotony. Many PD patients show difficulty in accessing the lexicon related to cognitive impa...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
Authors: Lidstone SC, Bayley M, Lang AE Abstract INTRODUCTION: Parkinson's Disease (PD) is a chronic and slowly progressive neurodegenerative disease. Team-based care is required to address and manage the diverse array of motor and non-motor symptoms in PD and related conditions. As the evidence base for the efficacy of non-pharmacological treatment of PD is expanding, many different centers are implementing interdisciplinary models of care with allied health professionals trained in PD. AREAS COVERED: In this review, the authors outline these various models and review the evidence for multidisciplinary approaches ...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
PARKINSON'S disease symptoms develop slowly over a long period of time, and could be caused by nerve damage in the brain. One of the more common warning signs of the neurodegenerative brain condition includes a change to the number of times you pass urine each day. Are you at risk of Parkinson's disease?
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
This week I’m in conversation with Mohanalakshmi Rajakumar. I was fortunate, back in 2012 to come across Mohana’s work and her book ‘Love comes later’. She very kindly graced my Thursday Throng in an interview and since then has gone on to win several awards for her work, including Best Indie Book Award for Romance in 2013. When we talked she explained how she felt about her challenging relationship with writing and gives a fantastic insight into the inner world of the writer. One piece of advice she gave was that a would-be author needs to be very clear about why they are writing in the first place...
Source: The Hysterectomy Association - Category: OBGYN Authors: Tags: Healthy Happy Writer author interview Source Type: news
Conclusions: HWE deviation of particular variants in relation to global populational HWE, could be, at least in part, associated with the differential susceptibility of specific populations and ethnicities to neurodegenerative diseases. Our data might contribute to the epidemiology and diagnostic/prognostic methods for neurodegenerative diseases.RESUMO Introdu ção: Mitocôndrias defeituosas ou danificadas resultam em alterações do metabolismo energético, equilíbrio redox e dinâmica celular e são, portanto, identificadas como o ponto central da patogênese em ...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
We examined the factors that affect levodopa PK in patients with Parkinson's disease (PD) and quantified the intensity of their respective effects.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research
AbstractObjectiveWe sought to evaluate demographic, clinical, and habits/occupational variables between phenotypic extremes in Parkinson ’s disease (PD).MethodsDatabases from nine movement disorders centers across seven countries were retrospectively searched for subjects meeting criteria for very slowly progressive, benign, PD (bPD) and rapidly progressive, malignant, PD (mPD). bPD was defined as Hoehn and Yahr (H&Y) stage  ≤ 3, normal cognitive function, and Schwab and England (S&E) score  ≥ 70 after ≥ 20 years of PD (≥ 10 years if older than 60...
Source: Journal of Neurology - Category: Neurology Source Type: research
Rejuvenation Research, Ahead of Print.
Source: Rejuvenation Research - Category: Genetics & Stem Cells Authors: Source Type: research
Conclusion: Our results indicated that the identification domain was the most practical olfactory factor in differentiating PD patients, and the combination of several different manifestations was better than a single symptom. Furthermore, the olfactory identification score may be associated with the ability of daily living.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Numerous genes whose mutations cause, or increase the risk of, Parkinson’s disease (PD) have been identified. An inactivating mutation (R258Q) in the Sac inositol phosphatase domain of synaptojanin 1 (SJ1/PARK20), a phosphoinositide phosphatase implicated in synaptic vesicle recycling, results in PD. The gene encoding Sac2/INPP5F, another Sac domain-containing protein, is...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
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