Results 91 to 100 of about 88,373 (350)

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Epileptic syndrome in the clinical picture of the diseaseand the level of antibodies to GluR1 subunit of AMPA glutamate receptors in the patients with gliomas in the cerebral hemispheres of a brain

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2013
The authors examined 92 patients with gliomas in the cerebral hemispheres. The immunoenzyme method was used for semiquantitative assay of the level of autoantibodies to GluR1 subunit of AMPA receptors of glutamate.
V. N. Ochkolyas, A. F. Gurchin, A. A. Skoromets, A. V. Kostyukevich   +3 more
doaj   +1 more source

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES [PDF]

, 2004
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F ...
AVONI P, BAGATTIN A, BARUZZI A, BISULLI F, D'ORSI G, FLORINDO I, MICHELUCCI R., NOBILE C, SCUDELLARO E, STRIANO P, STRIANO, SALVATORE, TASSINARI CA, TINUPER P, VIGNATELLI L   +13 more
core  

Metabolism peritumorous zone and alteration AMPAand NMDA-glutamate receptors in the pathogenesis of gliomas of the cerebral hemispheres

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2014
Examined 12 patients with gliomas of the big hemispheres of a brain. Used immunoenzyme method for semiquantitative determination of the level of autoantibodies to NR2A-subunit of NMDA- and GluR1-subunit of AMPA-receptors of glutamate.
V. N. Ochkolyas, G. V. Kataeva
doaj   +1 more source

A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls. [PDF]

Epilepsy Behav Rep, 2022
Cursio I, Ronzano N, Asunis M, Dettori MS, Cossu S, Murru S, Cau M, Incani F, Mei D, Bianchini C, Scioni M, Pruna D.   +11 more
europepmc   +1 more source

Frequency of metabolic syndrome and insulin resistance in epileptic patients treated with sodium valproate or carbamazepine monotherapy: A Case-Control Study 

, 2021
Mahnaz Bayat, Nasrin Jalali, Maryam Poursadeghfard, Masomeh Nazeri, Mohammad Hossein Dabbaghmanesh, Nahid Ashjazadeh   +5 more
openalex   +1 more source

Forensic considerations on violent parasomnias during lifespan [PDF]

, 2018
Nocturnal parasomnias are a group of sleep complex manifestation that don't alter the sleep macrostructure, but when persistent during adulthood may be assume violent aspects with relevant forensic implications about the ...
Cerroni F., Chisari M. G., D'Oro L., Di Folco A., Franco S., Gallai B., Geraci D., Lavano F., Lavano S. M., Magliulo R. M., Marotta R., Marsala G., Murabito P., Parisi L., Picciocchi E., Polito A. N., Romano P., Russo D., Salerno M., Salerno M., Sessa F., Sorrentino M., Testa D., Tripi G.   +23 more
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Subcellular organization of UBE3A in human cerebral cortex. [PDF]

, 2018
BackgroundLoss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its ...
Burette, Alain C, Chang, Edward F, Judson, Matthew C, Li, Alissa N, Philpot, Benjamin D, Seeley, William W, Weinberg, Richard J   +6 more
core   +3 more sources

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source