Results 171 to 180 of about 2,052,054 (253)

Survey research in genetic counseling. [PDF]

J Genet Couns
Myers MF, Atzinger CL.
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Effectiveness of a Four-Stage Death Education Model Based on Constructivist Learning Theory for Trainee Nursing Students. [PDF]

J Multidiscip Healthc
Yang Y, Li Y, Fu J, Guo D, Xue J.
europepmc   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley, Bradley Judge, Dmitriy A. Yablonskiy, Robert T. Naismith, Matthew R. Brier, Anne H. Cross   +5 more
wiley   +1 more source

Development and validation of practice-based multimedia assisted item: a mixed-method study. [PDF]

BMC Nurs
Lee I, Shin S.
europepmc   +1 more source

Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi, Carla Franch‐Marti, Iñigo Ruiz‐Barrio, Frederic Sampedro, Jesus Perez‐Perez, Jordi A. Matias‐Guiu, Fernando Cuetos, Gonzalo Olmedo‐Saura, Laura Perez‐Carasol, Andrea Horta‐Barba, Ignacio Aracil‐Bolaños, Javier Pagonabarraga, Jaime Kulisevsky, Saul Martinez‐Horta   +13 more
wiley   +1 more source

Distribution Approach to Local Volatility for European Options in the Merton Model with Stochastic Interest Rates. [PDF]

Entropy (Basel)
Nowak P, Gatarek D.
europepmc   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source

Consciousness Research Through Pain. [PDF]

Healthcare (Basel)
Shin DA, Chang MC.
europepmc   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar, Ruo‐Yah Lai, Zena Fadel, Yicheng Lin, Pia Parekh, Rachel Griep, Ming‐Kai Pan, Sheng‐Han Kuo   +7 more
wiley   +1 more source