Results 41 to 50 of about 104,266 (277)

Temporal discrimination: Mechanisms and relevance to adult-onset dystonia [PDF]

, 2017
Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as ...
Beck, Rebecca, Conte, Antonella, Hutchinson, Michael, Killian, Owen, Mcgovern, Eavan M., Narasimham, Shruti, O'Riordan, Sean, Reilly, Richard B.   +7 more
core   +1 more source

Study of congenital Morgagnian cataracts in Holstein calves [PDF]

, 2019
Cataracts are focal to diffuse opacities of the eye lens causing impaired vision or complete blindness. For bilateral congenital cataracts in Red Holsteins a perfectly cosegregating mutation within the CPAMD8 gene (CPAMD8:g.5995966C>T) has been reported.
Beineke, Andreas, Braun, Marina, Ciurkiewicz, Malgorzata, Distl, Ottmar, Eule, Johanna Corinna, Heppelmann, Maike, Metzger, Julia, Rehage, Jürgen, Reinartz, Sina, Struck, Ann-Kathrin   +9 more
core   +1 more source

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers

Open Heart, 2020
ObjectiveThe myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland.
Javier Diez, Begoña López, Barry J Maron, Berglind Adalsteinsdottir, Michael Burke, Ragnar Danielsen, Petr Jarolim, Jonathan Seidman, Christine E. Seidman, Carolyn Y Ho, Gunnar Th Gunnarsson   +10 more
doaj   +1 more source

Novel Schizophrenia Risk Gene TCF4 Influences Verbal Learning and Memory Functioning in Schizophrenia Patients [PDF]

, 2011
Background: Recently, a role of the transcription factor 4 (TCF4) gene in schizophrenia has been reported in a large genome-wide association study. It has been hypothesized that TCF4 affects normal brain development and TCF4 has been related to different
Aleman A, Anna Schuhmacher, Bogerts B, Dan Rujescu, Hans-Jürgen Möller, Heinz Häfner, Ingo Frommann, Leonhard Lennertz, Martin W. Landsberg, Michael Wagner, Petra Franke, Pitt D, Rainald Mössner, Saykin AJ, Stefánsson H, Svenja Schulze-Rauschenbach, Whyte MC, Wolfgang Gaebel, Wolfgang Maier, Wolfgang Wölwer, Wright IC   +20 more
core   +1 more source

Reporting on psychological well-being of older adults with chronic aphasia in the context of unaffected peers [PDF]

, 2011
Purpose: It is important that professionals working with individuals with acquired neurogenic communication disorders consider their clients’ psychological wellbeing. Much is known about the significant emotional, social and psychological consequences of
Cruice, M., Hickson, L., Worrall, L.
core   +1 more source

COGNITIVE FUNCTIONS AND SCHIZOTYPAL TRAITS IN UNAFFECTED RELATIVES OF SCHIZOPHRENIA PATIENTS: NON-LINEAR EFFECTS OF FAMILIAL LOADING

Dialogues in Clinical Neuroscience & Mental Health, 2018
OBJECTIVE: Schizophrenia can be classified into familial and sporadic, according to the genetic loading carried. The comparison of unaffected relatives with familial (“multiplex”) vs.
C Ζouraraki, L Κaragiannopoulou, P Κaramaouna, SG Giakoumaki   +3 more
doaj   +1 more source

Parkinsonian motor impairment predicts personality domains related to genetic risk and treatment outcomes in schizophrenia [PDF]

, 2017
Identifying endophenotypes of schizophrenia is of critical importance and has profound implications on clinical practice. Here we propose an innovative approach to clarify the mechanims through which temperament and character deviance relates to risk for
Alemán, Gabriela González, Balda, Mara, Bourdieu, Mercedes, Calvó, María, Cloninger, C. Robert, Conesa, Horacio A, de Erausquin, Gabriel A, Escobar, Javier I, Florenzano, Néstor V, Guerrero, Gonzalo, Kamis, Danielle, Molina, Juan L, Padilla, Eduardo, Rangeon, Beatriz Molina, Strejilevich, Sergio A, Zwir, Igor   +15 more
core   +2 more sources

Knowledge about Essential Tremor: A Study of Essential Tremor Families

Frontiers in Neurology, 2018
BackgroundEssential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship.MethodsTo fill ...
Ashley D. Cristal, Karen P. Chen, Nora Cristina Hernandez, Pam Factor-Litvak, Lorraine N. Clark, Lorraine N. Clark, Ruth Ottman, Ruth Ottman, Ruth Ottman, Ruth Ottman, Elan D. Louis, Elan D. Louis, Elan D. Louis   +12 more
doaj   +1 more source

Increased Prevalence of Minor Physical Anomalies Among the Healthy First-Degree Relatives of Bipolar I Patients – Results With the Méhes Scale

Frontiers in Psychiatry, 2021
Minor physical anomalies are somatic markers of aberrant neurodevelopment, so the higher prevalence of these signs among the relatives of bipolar I patients can confirm minor physical anomalies as endophenotypes.
Tímea Csulak, Györgyi Csábi, Róbert Herold, Viktor Vörös, Sára Jeges, András Hajnal, Márton Áron Kovács, Maria Simon, Márton Herold, Ákos Levente Tóth, Tamás Tényi   +10 more
doaj   +1 more source

Autism genetics: searching for specificity and convergence. [PDF]

, 2012
Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
core   +1 more source