Results 201 to 210 of about 5,518 (291)

Exploring relationships between abnormal within-network functional connectivity, preoperative brain tumor variables, and neuropsychological test scores. [PDF]

Neurooncol Adv
Laurin BJ, Treffy R, Feller C, Wilder J, Vasudev K, Shultz N, Taquet L, Lancaster M, Butts A, Boerger TF, Schmit BD, Krucoff MO.   +11 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Transgenerational Epigenetic Inheritance of Early-Life Stress from Grand-Dams Through Paternal Gametes: Impaired Social Cognition and Reduced Reactivity to Aversive Predictors in DAT-HET Rats. [PDF]

Biology (Basel)
D'Antonio E, Zanfino G, Puzzo C, Capobianco M, Mannella F, De Laurenzi V, Curcio G, Adriani W.   +7 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Autism and schizophrenia spectrum disorder: phenomenological qualitative study of patients' experience. [PDF]

Front Psychiatry
Jeličić A, Drobnič Radobuljac M, Sass L, Škodlar B.   +3 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

What a "Landscape of Consciousness" Means for Neurology and Neuroscience. [PDF]

Curr Neurol Neurosci Rep
Kuhn RL.
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Distinguishing out-of-body experiences from lucid dreaming: a phenomenological analysis. [PDF]

Front Psychol
Weiler M, Moreira-Almeida A, Monti MM.
europepmc   +1 more source

Creativity, altered states of consciousness and anomalous cognition: the role of epistemological flexibility in the creative process [PDF]

In this PhD research a question is posed that concerns ‘varieties of creativity’ that have infrequently been explored empirically, although often described anecdotally. This question being: is, and if so, how, is creativity related to altered states of consciousness (ASCs) and parapsychological experiences?
openaire