Results 71 to 80 of about 751,624 (316)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Verbal autopsy completion rate and factors associated with undetermined cause of death in a rural resource-poor setting of Tanzania. [PDF]

, 2011
UNLABELLED\ud \ud ABSTRACT:\ud \ud BACKGROUND\ud \ud Verbal autopsy (VA) is a widely used tool to assign probable cause of death in areas with inadequate vital registration systems.
Mwanyangala Mathew A, Mwanyangala, Mathew A, Maliti, Deodatus V, Salim K Abdulla, Angelina M Lutambi, Masanja Honorati M, Rutashobya Jensen C, Honorathy M Urassa, Jensen C Rutashobya, Honorati M Masanja, Lema, Rose N, Maliti Deodatus V, Mahutanga Chrisostom C, Urassa Honorathy M, Chrisostom C Mahutanga, Rose N Lema, Masanja, Honorati M, Abdulla Salim K, Lema Rose N, Lutambi, Angelina M, Deodatus V Maliti, Abdulla, Salim K, Mahutanga, Chrisostom C, Lutambi Angelina M, Mathew A Mwanyangala, Rutashobya, Jensen C, Urassa, Honorathy M   +26 more
core   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

الـمنزلة بين الـمنزلتين عند القاضي عبد الجبار ورد أهل السنة عليه [PDF]

Mağallaẗ Kulliyyaẗ al-dirāsāt al-islāmiyyaẗ wa al-ʿarabiyyaẗ lil banat bi ğāmiʿaẗ Al-Ahzhar farʿ kafr Al-Sheikh, 2019
هذه القضية، التي تعد من بين أهم القضايا الکلامية لا سيما وأنها شغلت الکثيرين من الباحثين في القديم والحديث، ولا يزال يتردد صداها إلي يومنا هذا في أوساط المفکرين والفلاسفة و  أن هذا الأصل أول أصول المعتزلة ظهوراً من الناحية التاريخية وأن هذا الموضوع يرتبط
نظير محمد النظير عياد
doaj   +1 more source

A non-verbal analogue to the verbal transformation effect. [PDF]

Canadian Journal of Psychology / Revue canadienne de psychologie, 1973
The verbal transformation effect, the phenomenon in which continued listening to recorded repetitions of a stimulus produces perceptual illusory changes in normal listeners, has been elicited by a variety of speech stimuli, including isolated vowels, consonant-vowel nonsense syllables, words, phrases, and sentences.
N J, Lass, L K, West, D D, Taft
openaire   +2 more sources

COMUNICAÇÃO-NÃO-VERBAL EM SALA DE AULA: ANÁLISE DO CORPO DOCENTE EM UM PROGRAMA DE PÓS-GRADUAÇÃO - STRICTO SENSU [PDF]

, 2005
O conteúdo ministrado em sala de aula, os maiores títulos acadêmicos e toda a experiência profissional que um professor de Mestrado possa ter é acompanhada por sua comunicação-não-verbal que também transmite muito aos alunos.
Fischer, Janine Kuroski, Domingues, Maria José Carvalho de Souza   +1 more
core  

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Respiratory Constraints in Verbal and Non-verbal Communication [PDF]

Frontiers in Psychology, 2017
In the present paper we address the old question of respiratory planning in speech production. We recast the problem in terms of speakers' communicative goals and propose that speakers try to minimize respiratory effort in line with the H&H theory.
Włodarczak, Marcin, Heldner, Mattias
openaire   +3 more sources

ROC analysis of the verbal overshadowing effect: testing the effect of verbalisation on memory sensitivity

, 2015
This study investigated the role of memory sensitivity versus recognition criterion in the verbal overshadowing effect (VOE). Lineup recognition data was analysed using ROC analysis to separate the effects of verbalisation on memory sensitivity from ...
Flowe, Heather D.; id_orcid, Smith, HMJ, Flowe, HD, Smith, Harriet M.J., Harriet M. J. Smith (7239116), Heather Flowe (1259874)   +5 more
core   +1 more source

Problematic Internet Use in Frontotemporal Dementia: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso, Giuseppe Volpe, Agnese Valguarnera, Davide Vilella, Alessandra Vitulli, Valentina Gnoni, Alessia Giugno, Eleonora Rollo, Mark D. Griffiths, Giancarlo Logroscino   +9 more
wiley   +1 more source