Results 111 to 120 of about 7,289,232 (294)

Facts About Fragile X Syndrome [PDF]

Fragile X syndrome (FXS) is the most common known cause of intellectual disability that can be inherited, which means in can be passed from parent to child. FXS affects both males and females. However, females often have milder symptoms than males.

core  

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

Fragile chromosome x syndrome: Sequelae in feet and a case report

, 2018
Fragile chromosome X syndrome is the prime cause of hereditary mental retardation and the second most frequent chromosomopathy after Down’s syndrome [1,2]. It is estimated to affect one in 4000 males and that there is one female carrier per 800 and
Reina Bueno, María, Domínguez-Maldonado, Gabriel, Munuera Martínez, Pedro Vicente, Lafuente Sotillos, Guillermo   +3 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Artificial Intelligence‐Driven Natural Product Drug Discovery: From Computational Genome Mining to Clinical Translation

Medicinal Research Reviews, EarlyView.
ABSTRACT Natural products (NPs) have historically yielded numerous therapeutic agents, yet their integration into modern drug discovery has been constrained by chemical complexity, low abundance, laborious dereplication, and limited target annotation.
Antonio Lavecchia
wiley   +1 more source

Spontaneous Coronary Artery Dissection in Fragile X Syndrome

JACC: Case Reports
Background: Spontaneous coronary artery dissection is an uncommon cause of acute coronary syndromes, with rare reports in fragile X syndrome. Case Summary: A 44-year-old man with fragile X syndrome presented with ventricular fibrillation arrest and ...
Majid Anwar, MBBS, Harsh Chawla, MBBS, Thomas Kaier, MD, MBA, PhD, Paul Bambrough, MB, BChir, PhD   +3 more
doaj   +1 more source

Fragile X syndrome and associated disorders.

, 2010
Fragile X syndrome and associated ...
KM Cornish (15878864), KM Gray (9965792), NJ Rinehart (10307216)   +2 more
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Developing the Dopamine D3 Receptor (D3R) Antagonist, (R)‐VK4‐116, as a Non‐Opioid Medication for the Treatment of Opioid Use Disorder

Medicinal Research Reviews, EarlyView.
ABSTRACT Opioid use disorder (OUD) remains a major global health challenge, and currently approved treatments (methadone, buprenorphine, and naltrexone) are all opioid receptor‐targeting drugs with limitations in access, adherence, stigma, and use in polysubstance use disorders. Because the dopamine D3 receptor (D3R) is enriched in limbic brain regions
Chia‐Kuei Wu, Yu‐Chih Lin, Junfeng Huang, Bangwei Ding, Pramod Terse, Rahul Nandre, Haksong Jin, Molly Congdon, Kun Shen, Philip Sanderson, Gregory Tawa, Stephanie Mounaud, Marta De Santis, Donald Lo, Elizabeth A. Ottinger, Amy Hauck Newman   +15 more
wiley   +1 more source

Surface electromyography applied to fragile X syndrome

, 2022
openÈ stata effettuata l'analisi dell'attività muscolare, attraverso l'elettromiografia di superficie, di 6 bambini affetti da sindrome X-fragile per valutare quantitativamente le alterazioni muscoloscheletriche in questi soggetti in condizioni ...
SIMONATO, GIULIA
core  

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source