Results 231 to 240 of about 6,970,054 (353)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Multimodal (Bio)Markers and Risk of Obesity - A Comprehensive Scoping Review. [PDF]

Adv Nutr
Vahid F, Loyola-Leyva A, Tur J, Bouzas C, Devaux Y, Malisoux L, Garcia S, De Carvalho M, Ródenas-Munar M, Turner J, Lamy E, Perez-Jimenez M, Ravn-Haren G, Andersen R, Forberger S, Nagrani R, Onorati MG, Bonetti GG, Rodrigues D, Bohn T.   +19 more
europepmc   +1 more source

The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository

NeuroImage, 2016
T. Jernigan, T. Brown, D. Hagler, N. Akshoomoff, H. Bartsch, Erik Newman, W. Thompson, C. Bloss, S. Murray, N. Schork, David N. Kennedy, J. Kuperman, Connor J. McCabe, Yoonho Chung, Ondrej Libiger, M. Maddox, B. J. Casey, Linda Chang, T. Ernst, J. Frazier, J. Gruen, E. Sowell, T. Kenet, W. Kaufmann, S. Mostofsky, D. Amaral, A. Dale   +26 more
semanticscholar   +1 more source

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Host preference and resting behavior of Anopheles coluzzii (Diptera: Culicidae) on the island of São Tomé, West Africa. [PDF]

J Med Entomol
Rocha G, M Corrêa MJ, Marbel J, Viegas J, Campos M, Crepeau M, Egan CM, Cornel AJ, Sousa CA, Lanzaro GC, Pinto J.   +10 more
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith-Magenis Syndrome due to a Previously Unreported <i>RAI1</i> Mutation: A Case Report. [PDF]

Clin Case Rep
Chavarría-Martínez EA, Arellano-Sandúa J, Arias-Hidalgo R, Patiño-García A, Cano-Prous A.   +4 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Neurogenetic Profiles of Anxiety, Impulsivity, and Personality Traits in Elite Combat Sport Athletes: A Cluster-Based Analysis. [PDF]

Biology (Basel)
Humińska-Lisowska K, Recław R, Suchanecka A, Chmielowiec K, Łosińska K, Chmielowiec J, Grzywacz A.   +6 more
europepmc   +1 more source