Results 231 to 240 of about 128,632 (290)

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome. [PDF]

Am J Hum Genet
Serpieri V, Vezain-Mouchard M, Orsi A, Lecointre M, Mazzotta C, Marguet F, Garbelli A, Marcorelles P, Celli L, Goldenberg A, De Mori R, Drouot N, Petrizzelli F, Janin F, Nicolas G, Smal N, Condoluci C, Marini C, Tran-Mau-Them F, Ruault V, Micalizzi A, Bione S, Mazza T, Pichiecchio A, Ginevrino M, Weckhuysen S, Bedois A, Desnous B, Hermitte L, Rabie G, Kanaan M, Gonzalez BJ, Sabbioneda S, Laquerrière A, Saugier-Veber P, Valente EM.   +35 more
europepmc   +1 more source

First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation. [PDF]

Neurogenetics
Pham A, Harmon J, Thibodaux LK, Flashman LA, Curtin M.   +4 more
europepmc   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

PURA-Related Neurodevelopmental Disorder: A Comprehensive Clinical Review of Genetics, Phenotype, and Emerging Therapeutic Strategies. [PDF]

Cureus
Afshar S, Ahmed W, Çelik EÖ, Younis SS, Campbell C, Potluri YKR, Kaur J, Meda DS, Manjari KK, Khachikian A, Leena J, Rai M.   +11 more
europepmc   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. [PDF]

Genet Med
Bereshneh AH, Wilson KA, Pan X, Hannan SB, Cooper MA, Diaz J, Leon E, Moses TM, Azamian MS, Scott DA, Billie Au PY, Appendino JP, Scheffer IE, Kaspi A, Bahlo M, Hildebrand MS, Morgan AT, Ekure E, Baylor College of Medicine Center for Precision Medicine Models, Shulman JM, Hildebrandt F, Posey JE, Kruszka P, Vilain E, Yamamoto S, Kanca O, Berger S, Bellen HJ.   +27 more
europepmc   +1 more source

A Comparative Evaluation of Three Large Language Models for Parent‐Centered Questions About Anorexia Nervosa

International Journal of Eating Disorders, EarlyView.
ABSTRACT Background Large language models (LLMs) are increasingly used to obtain health information, including guidance on child and adolescent mental health. In anorexia nervosa (AN), where early recognition and timely intervention are critical, the accuracy of AI‐generated information available to parents may have important clinical implications ...
Celal Yeşilkaya, Hande Kırışman Keleş, Esra Rabia Taşpolat, Caner Mutlu, Serkan Turan   +4 more
wiley   +1 more source

Dietetic‐Led Cognitive‐Behavioral Therapy for Avoidant/Restrictive Food Intake Disorder: Feasibility, Acceptability, and Proof‐of‐Concept

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Cognitive‐Behavioral Therapy for Avoidant/Restrictive Food Intake Disorder (CBT‐AR) is an emerging treatment for ARFID, but to date, it has only been delivered by mental health clinicians. Given the relevance of nutrition to treatment goals, we adapted the treatment to be dietetic‐led (D‐CBT‐AR).
Copeland G. Winten, Esben Strodl, Gabriella Heruc, Joanne Avery, Kamryn T. Eddy, Lynda J. Ross, Jennifer J. Thomas   +6 more
wiley   +1 more source

Comparative Properties of Two Self‐Report Measures of Avoidant/Restrictive Food Intake Disorder: Psychometric and Clinical Utility

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objectives We compared two measures of Avoidant/Restrictive Food Intake Disorder (ARFID)—the NIAS and the PARDI‐AR‐Q to determine which demonstrates better psychometric and clinical utility. Methods The study was pre‐registered (OSF; DOI 10.17605/OSF.IO/N8WBF). Participants (aged ≥ 18 years, BMI > 18.5) were recruited via Prolific and screened
Rebecca Nicholls‐Clow, Arianna Prudenzi, Glenn Waller   +2 more
wiley   +1 more source