Results 281 to 290 of about 9,306,982 (363)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Improvement of apathy in early Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Castrioto A, Schmitt E, Anheim M, Meoni S, Klinger H, Sourd D, Pelissier P, Lhommée E, Bichon A, Tranchant C, Moro E, Fraix V, Thobois S, Krack P.   +13 more
europepmc   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Anomalies in effective connectivity explain different hallucination subtypes in Parkinson’s disease psychosis

Vignando M, ffytche D, Mazibuko N, Palma G, Bhat A, Montagnese M, Dave S, Tai Y, Batzu L, Leta V, Chaudhuri K, Gray CW, Mehta M.   +12 more
europepmc   +1 more source

Palladium Nanoparticles Dispersed in Alginate Beads as an Efficient, Eco‐friendly, and Sustainable Heteregeneous Catalyst: Testing in Carbon‐Sulfur and Carbon‐Carbon Cross‐Coupling Reactions

Asian Journal of Organic Chemistry, EarlyView.
Abstract The development of sustainable and efficient catalysts featuring palladium nanoparticles (Pd NPs) is highly sought after. In this context, sodium alginate, a natural polymer, presents a promising eco‐friendly support material for Pd NPs.
Ramesh Katla, Rakhi Katla, Daniel Rapachi, Marcos A. Gelesky, João Henrique Z. dos Santos, Gilber R. Rosa, Clarissa H. Rosa   +6 more
wiley   +1 more source

Uncovering the Neural Fingerprint of Akinetic States in a Parkinson’s Disease Rodent Model

Garulli EL, Merk T, El Hasbani G, Kabaoğlu B, De Sa R, Behrsing R, Doll D, Schellenberger M, Vogt A, Neumann W, Peng Y, Endres M, Harms C, Wenger N.   +13 more
europepmc   +1 more source

Self‐Administered Taste Testing Without Water: Normative Data for the 53‐Item Waterless Empirical Taste Test (WETT)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background According to the National Health and Nutrition Examination Survey (NHANES), more than 20 million Americans suffer from chronic taste problems. Unfortunately, quantitative testing is rarely performed, self‐reports are inaccurate, and “taste” is often confused with olfaction‐dependent flavors.
Richard L. Doty, Ryan Sharetts, Shima T. Moein   +2 more
wiley   +1 more source

LRRK2-mediated mitochondrial dysfunction in Parkinson's disease. [PDF]

Biochem J
Buck SA, Sanders LH.
europepmc   +1 more source

Olfactory Impairment and Incident Cognitive Decline: A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory impairment (OI) is associated with poor ageing outcomes. While cross‐sectional studies found a high prevalence of OI among patients with neurodegenerative diseases, the temporal relationship remains unclear. This meta‐analysis aims to synthesise the longitudinal association of OI with cognitive decline (CD). Methods PubMed,
Brian Sheng Yep Yeo, Harris Jun Jie Muhammad Danial Song, Benjamin Kye Jyn Tan, Adithya Suresh, Owen Tsung Wen Ho, Jun He Chan, Esther Yanxin Gao, Claire Jing‐Wen Tan, Chong Boon Teo, Christopher Li‐Hsian Chen, Laura Tay, Ecosse L. Lamoureux, Thomas Hummel, Anna See, Shuhui Xu, Song Tar Toh, Tze Choong Charn, Neville Wei Yang Teo   +17 more
wiley   +1 more source