Results 231 to 240 of about 1,143,176 (286)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Unveiling challenges in Mendelian randomization for gene-environment interaction. [PDF]

Genet Epidemiol
Gorfine M, Qu C, Peters U, Hsu L.
europepmc   +1 more source

Prenatal gene-environment interactions mediate the impact of advanced maternal age on mouse offspring behavior [PDF]

Marta Marlena Ziętek, Aneta Jaszczyk, Adrian Stankiewicz, Silvestre Sampino   +3 more
openalex   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Gene-environment interaction in ADHD traits: the role of school environment, personality, callousness-unemotional traits and satisfaction with life. [PDF]

Eur Child Adolesc Psychiatry
Schwabe I, Pelt DHM, Greven CU.
europepmc   +1 more source

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan, Meeta Yadav, Sudeep Ghimire, Peter C. Lehman, Apurva J. Patel, Sydney Woods, Heena Olalde, Jemmie Hoang, Mishelle Paullus, Catherine Cherwin, Christine Gill, Tracey Cho, Ashutosh K. Mangalam   +12 more
wiley   +1 more source

Exposure to Air Pollutants and Myocardial Infarction Incidence: A UK Biobank Study Exploring Gene-Environment Interaction. [PDF]

Environ Health Perspect
Ma Y, Li D, Cui F, Wang J, Tang L, Yang Y, Liu R, Xie J, Tian Y.   +8 more
europepmc   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu, Oliver Robinson, Christina M. Lill, Anna Matton, Raquel Puerta, Pilar Sanz, Merce Boada, Agustín Ruiz, Lefkos Middleton, for the Alzheimer's Disease Neuroimaging Initiative   +9 more
wiley   +1 more source

Supplementary Figure 3 from Genome-Wide Gene–Environment Interaction Analyses to Understand the Relationship between Red Meat and Processed Meat Intake and Colorectal Cancer Risk [PDF]

Mariana C. Stern, Joel Sanchez Mendez, Andre E. Kim, Mireia Obón‐Santacana, Ferrán Moratalla-Navarro, Vicente Martín, Vı́ctor Moreno, Yi Lin, Stephanie A. Bien, Conghui Qu, Yu‐Ru Su, Emily White, Tabitha A. Harrison, Jeroen R. Huyghe, Catherine M. Tangen, Polly A. Newcomb, Amanda I. Phipps, Claire E. Thomas, Eric S. Kawaguchi, Juan Pablo Lewinger, John L. Morrison, David V. Conti, Jun Wang, Duncan C. Thomas, Elizabeth A. Platz, Kala Visvanathan, Temitope O. Keku, Christina C. Newton, Caroline Y. Um, Anshul Kundaje, Anna Shcherbina, Neil Murphy, Marc J. Gunter, Niki Dimou, Nikos Papadimitriou, Stéphane Bezieau, Fränzel J.B. van Duijnhoven, Satu Männistö, Gad Rennert, Alicja Wolk, Michael Hoffmeister, Hermann Brenner, Jenny Chang‐Claude, Yu Tian, Loı̈c Le Marchand, Michelle Cotterchio, Konstantinos K. Tsilidis, D. Timothy Bishop, Yohannes Adama Melaku, Brigid M. Lynch, Daniel D. Buchanan, Cornelia M. Ulrich, Jennifer Ose, Anita R. Peoples, Andrew J. Pellatt, Li Li, Matthew A.M. Devall, Peter T. Campbell, Demetrius Albanes, Stephanie J. Weinstein, Sonja I. Berndt, Stephen B. Gruber, Edward Ruiz-Narváez, Mingyang Song, Amit D. Joshi, David A. Drew, Jessica L. Petrick, Andrew T. Chan, Marios Giannakis, Ulrike Peters, Li Hsu, W. James Gauderman   +71 more
openalex   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source