Results 11 to 20 of about 52,382 (204)

Focal Dystonic Tremor as a Prominent Feature in a Child with a CACNA1A-Related Disorder. [PDF]

Mov Disord Clin Pract, 2023
Movement Disorders Clinical Practice, Volume 10, Issue 10, Page 1554-1556, October 2023.
Mercati M, Graziola F, Canafoglia L, Caputo D, Danti FR, Reale C, Zorzi G.   +6 more
europepmc   +2 more sources

Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population. [PDF]

Neuropsychopharmacol Rep
We investigated the role of rare CNTN5 variants in ASD susceptibility by performing resequencing, genotyping, and association analysis in a Japanese population. Out of three identified CNTN5 rare putatively damaging variants, we found a nominally significant association between the I227 variant and ASD in 614 patients with ASD and 61 058 healthy ...
Hadi AF, Arta RK, Kushima I, Egawa J, Watanabe Y, Ozaki N, Someya T.   +6 more
europepmc   +2 more sources

Proteomic diversification of spermatostyles among six species of whirligig beetles. [PDF]

Mol Reprod Dev
Whirligig beetle sperm travel cooperatively through the female reproductive tract attached to a spermatostyle, a poorly studied rod‐like structure. Proteome characterization revealed that spermatostyles are comprised of a restricted set of proteases and possess catalytic activity.
Gomez RA, Dallai R, Sims-West DJ, Mercati D, Sinka R, Ahmed-Braimah Y, Pitnick S, Dorus S.   +7 more
europepmc   +2 more sources

S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review

JIMD Reports, Volume 64, Issue 6, Page 417-423, November 2023., 2023
Abstract Phospho‐ribosyl‐pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. This enzyme generates phospho‐ribosyl‐pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other metabolic pathways.
Angela Lee, Renatta Knox, Margaret Reynolds, Erin McRoy, Hoanh Nguyen   +4 more
wiley   +1 more source

Ready Biodegradability study and insights with ultra‐high‐performance liquid chromatograph coupled to a quadrupole time of flight of a Metformin‐based drug and of Metarecod, a natural substance‐based medical device

Journal of Mass Spectrometry, Volume 58, Issue 10, October 2023., 2023
Abstract Drugs are indispensable products with incontrovertible benefits to human health and lifestyle. However, due to their overuse and improper disposal, unwanted residues of active pharmaceutical ingredients (APIs) have been found in different compartments of the environment and now are considered as contaminants of emerging concern (CECs ...
Giacomo Proietti, Michela Burico, Claudio Marzio Quintiero, Emiliano Giovagnoni, Valentino Mercati, Mattia Gianni, Luisa Mattoli   +6 more
wiley   +1 more source

Contactin‐6‐deficient male mice exhibit the abnormal function of the accessory olfactory system and impaired reproductive behavior

Brain and Behavior, Volume 13, Issue 4, April 2023., 2023
Abstract Introduction Contactin‐6 (CNTN6), also known as NB‐3, is a neural recognition molecule and a member of the contactin subgroup of the immunoglobulin superfamily. Gene encoding CNTN6 is expressed in many regions of the neural system, including the accessory olfactory bulb (AOB) in mice.
Wei Zhang, Huiling Huang, Ailing Gui, Di Mu, Tian Zhao, Hongtao Li, Kazutada Watanabe, Zhicheng Xiao, Haihong Ye, Yiliang Xu   +9 more
wiley   +1 more source

Salvatore Biasco e l’instabilità dell’economia mondiale nella prospettiva dei “cicli valutari”

Moneta e Credito, 2023
Con il saggio su “I cicli valutari e l’economia internazionale” di fine anni Ottanta (1987), Salvatore Biasco avvia una importante riflessione teorica sul regime di fluttuazione dei cambi, confutando sulla base di un approccio keynesiano la validità dei
Daniela Palma
doaj   +1 more source

3q29 microduplication syndrome: New evidence for the refinement of the critical region

Molecular Genetics &Genomic Medicine, Volume 11, Issue 4, April 2023., 2023
Pedigree for the family analysed in this study including the identified 3q29 microduplication variant. Abstract Background The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb.
Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De Stefano, Rossella Brando, Domenica Puntorieri, Luca Cento, Maurizio Genuardi, Elena Falcone   +8 more
wiley   +1 more source

Per un mercato finanziario europeo integrato. (Towards a European integrated financial markets)

Moneta e Credito, 2013
I mercati finanziari di tutto il mondo stanno attraversando esperienze simili di innovazione e agglomerato . Questo articolo passa in rassegna quelle tendenze e considera le implicazioni politiche e il movimento verso l'integrazione dei mercati dei ...
L. DINI
doaj   +1 more source

Arrow(s) of Time without a Past Hypothesis [PDF]

, 2019
The paper discusses recent proposals by Carroll and Chen, as well as Barbour, Koslowski, and Mercati to explain the (thermodynamic) arrow of time without a Past Hypothesis, i.e., the assumption of a special (low-entropy) initial state of the universe ...
Lazarovici, Dustin, Reichert, Paula
core   +3 more sources