Results 171 to 180 of about 244,000 (312)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

P185: Project FIND-OUT: Outpatient genome sequencing in expanded pool of symptomatic infants at risk for genetic neurodevelopmental disorders provides earlier diagnoses [PDF]

Gabriela Pierobon Mays, Katie Schmidt, Corinne Hunnicutt, R Tummala, Elizabeth Rountree, Natasha N. Ludwig, Sho Yano, Sylvia Bonnie Liebers, Amanda Baxter, Deborah Ondrasik, Seth Berger, Kimberly Goodspeed, Terry Jo Bichell   +12 more
openalex   +1 more source

Neurodevelopmental Disorder [PDF]

, 2020
openaire   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report [PDF]

Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
openalex   +1 more source

From Neurodevelopmental to Neurodegenerative Disorders: The Vascular Continuum [PDF]

, 2021
Julie Ouellette, Baptiste Lacoste
openalex   +1 more source

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review [PDF]

Savas Baris, Mustafa Dogan, Kerem Terali, Alper Gezdirici, Recep Eröz, Peren Perk Yucel, Huseyin Kilic, Cuneyd Yavas, Gizem YILDIRIM, Ibrahim Baris   +9 more
openalex   +1 more source

Editorial: Language across neurodevelopmental disorders [PDF]

, 2023
Marisa G. Filipe, Lénia Carvalhais, Leonard Abbeduto, Sónia Frota   +3 more
openalex   +1 more source

Anomalous Pattern of Left Hemisphere Visual Connectivity in Children With Autism: Association With Impaired Praxis

Autism Research, EarlyView.
ABSTRACT Prominent theories of autism suggest autism‐associated differences in visual‐motor integration (VMI) may disrupt learning of motor and social skills typically acquired by observation and imitation. Supporting these theories, children with autism spectrum disorder (ASD) show robust differences in motor tasks reliant on dynamic VMI (e.g., ball ...
Jonah McLaughlin, Deana Crocetti, Stewart H. Mostofsky, Daniel E. Lidstone   +3 more
wiley   +1 more source

Prevalence of OSA Risk and Bruxism in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Children with autism spectrum disorder (ASD) often present with sleep disorders, including obstructive sleep apnea (OSA), a condition characterized by upper airway obstruction during sleep. Bruxism has been recently described as being associated with OSA.
Anna Alessandri‐Bonetti, Federica Guglielmi, Andrea Faustini, Linda Sangalli, Edoardo Staderini, Patrizia Gallenzi   +5 more
wiley   +1 more source

Distinct clinical phenotypes of pediatric Obsessive-Compulsive Disorder with and without neurodevelopmental disorders: evidence for a neurodevelopmental continuum

Barbara D’Aiello, Maria Pontillo, Francesco Demaria, Michelangelo Di Luzio, Cristina Di Vincenzo, Ilaria Bertoncini, Valeria Villani, Deny Menghini, Stefano Vicari   +8 more
openalex   +1 more source