Results 151 to 160 of about 376,252 (303)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Epilepsy-Related Psychosis in Drug-Resistant Epilepsy With Nonconvulsive Status Epilepticus and Difficult Antipsychotic Titration: A Case Report. [PDF]

Neuropsychopharmacol Rep
Omori W, Hirabayashi R, Oga K, Masuda Y, Okada G.   +4 more
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Shared Spectral Parameters Between EEG and Basal Ganglia LFP Distinguish Sleep-Specific Oscillations in Parkinson's Disease. [PDF]

Eur J Neurol
Hirt L, Martini R, Tang S, Summers M, West L, Kushida C, Gliske SV, Maroni D, Nho Y, Halpern CH, Abosch A, Thompson JA.   +11 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators

Angewandte Chemie, EarlyView.
The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia, Giusy Carleo, Zhenni Yang, Francesca Di Matteo, Federica De Rosa, Gerardina Smaldone, Zhao‐Bing Gao, Marco D'Alì, Rita Turcio, Demin Ma, Veronica Di Sarno, Nannan Su, Salvatore Vincenzo Giofrè, Giacomo Pepe, Pietro Campiglia, Alessia Bertamino, Francesco Miceli, Jiangtao Guo, Nunzio Iraci, Carmine Ostacolo, Maurizio Taglialatela   +20 more
wiley   +2 more sources

DUQUE, Eduardo – Valores e religiosidade em Portugal – Comportamentos e atitudes geracionais. Porto: Edições Afrontamento, 2022. 126 p. ISBN 9789723619386

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Paulo Reis Mourão
doaj   +2 more sources

Prognostic Significance of EEG Patterns in Post-Cardiac Arrest Coma: A Multicenter Retrospective Cohort Study of 1,000 Patients. [PDF]

Neurol Open Access
Dey RK, Yaramis A, Turley N, Mullan H, Chougule S, Gallagher K, Bayas G, Barot N, Drislane FW, Shafi MM, Pang T, Goldenholz DM, Struck AF, Kim J, Zafar S, Lee JW, Amorim E, Westover MB.   +17 more
europepmc   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil, Hannan A Qureshi, Logan Lindemann, David J. Cvancara, Ashton E. Lehmann, Aria Jafari   +5 more
wiley   +1 more source

Education Research: Development of a Workplace-Based Assessment to Enhance EEG Interpretation Skills for Medical Students. [PDF]

Neurol Educ
Kostan H, Dickey A, Gadelmola K, Goldman AM, Krishnan V, Lin L, Tantillo G, Maheshwari A.   +7 more
europepmc   +1 more source