Results 61 to 70 of about 144,447 (302)

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Autism Spectrum Disorders (ASD): Screening, Assessment, and Treatment in the Under-Five Population [PDF]

, 2009
Brown Bag (December 2009) Ann Levine: Autism Spectrum Disorders (ASD): Screening, Assessment, and Treatment in the Under-Five ...
Levine, Ann
core   +1 more source

Brain Hyperconnectivity in Children with Autism and its Links to Social Deficits

Cell Reports, 2013
Autism spectrum disorder (ASD), a neurodevelopmental disorder affecting nearly 1 in 88 children, is thought to result from aberrant brain connectivity.
Kaustubh Supekar, Lucina Q. Uddin, Amirah Khouzam, Jennifer Phillips, William D. Gaillard, Lauren E. Kenworthy, Benjamin E. Yerys, Chandan J. Vaidya, Vinod Menon   +8 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Autism spectrum disorders [PDF]

, 2011
The earlier that children with an Autism Spectrum Disorder (ASD) receive referral, diagnosis and intervention, the better the long-term results are for those children and their families (Barbaro & Dissanyake, 2009; Wiggins et al., 2006; Mandell et al.
Centre for Community Child Health
core  

Pre and perinatal predictors on autism spectrum disorders: a case-control study in the west of Iran

Maternal Health, Neonatology and Perinatology
Introduction The constellation of pre and perinatal predictors are introduced as predictor for autism spectrum disorders (ASD), however, the information about the direction and strength of these predictors are lacking in Western, Iran.
Ensiyeh Jenabi, Amir Mohammad Salehi, Erfan Ayubi, Mahdieh Seyedi, Salman Khazaei, Hanieh Jourmand   +5 more
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Virtual environments and autism: a developmental psychopathological approach [PDF]

, 2013
Individuals with autism spectrum disorders supposedly have an affinity with ICT, making it an ideally suited media for this population. Virtual environments (VEs) – both two dimensional and immersive – represent a particular kind of ICT that might be of ...
Rajendran, G; id_orcid
core   +1 more source