Results 181 to 190 of about 18,861 (235)

Identifying biomarkers of neurodevelopmental and mental health outcomes in a prospective longitudinal cohort of South African children: design and feasibility of the Safe Passage BONO study. [PDF]

Pilot Feasibility Stud
Springer PE, Brink LT, Potter M, Mackay W, Smit PC, du Plessis C, Koziel J, Del Bianco T, Oakley BFM, Haartsen R, Jones EJH, Munafò M, Odendaal HJ, Murphy DG, Loth E.   +14 more
europepmc   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Examining the independent and combined effects of autistic and ADHD traits on multisensory integration. [PDF]

Front Hum Neurosci
Hare C, Luszawski M, Schulz SE, Arnaout Y, Stevenson RA.   +4 more
europepmc   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +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

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders. [PDF]

Front Psychiatry
Chawner S, Chetcuti LC, Spackman EK, Uljarevic M.   +3 more
europepmc   +1 more source

Toxicity Differences Between Microplastics and Nanoplastics in Organs: From Molecular Mechanisms to Potential Therapeutic Strategies

Med Research, EarlyView.
This review systematically compares the size‐dependent toxicity of microplastics and nanoplastics in the intestine, liver, kidney, lung, and brain. Particle size determines bioavailability, barrier penetration, and injury mechanisms. Because of their small size and high surface reactivity, NPs readily cross the intestinal epithelium and blood–brain ...
Yixian Cheng, Junjie Chen, Rui Fu, Jiawei Zhang, Jianguang Jia, Wei Wang, Zheng Zhang, Peng Zhang, Haosong Chen, Huake Cao, Gang Li, Weiwei Sheng, Ting Li, Bo Chen, Guodong Cao   +14 more
wiley   +1 more source

Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study. [PDF]

Children (Basel)
Yaneva A, Levkova M, Stoyanova M, Hachmeriyan M, Angelova L, Pancheva R.   +5 more
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation. [PDF]

Front Immunol
Marin-Llobet A, Hernando-Davalillo C, Baide-Mairena H, Llobet-Agullo P, Fornes Garcia N, Perez-Herrera V, Baro-Serrano A.   +6 more
europepmc   +1 more source