Results 171 to 180 of about 335,177 (263)

Feasibility and Tolerability of Performing Portable MRI for Neurological Disorders in an Outpatient Neurology Clinic: A Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick, Nomin Enkhtsetseg, Joseph Sadok, Matheus Mochetti, Annabel Sorby Adams, Jennifer Guo, Cristina Trapaga Hacker, Isabella Gomez Hjerthen, Seungwon Lee, Siddharth Satish, Andrew S. Ham, Justin Hill, Denis Balaban, Kevin Kyle, Rebecca L. Gillani, Marcelo Matiello, Aleksandar Videnovic, Eric C. Klawiter, W. Taylor Kimberly, Farrah J. Mateen   +19 more
wiley   +1 more source

Vitiligo in the Digital Spotlight: Retrospective Longitudinal Study in Germany. [PDF]

JMIR Form Res
Müller E, Gasteiger C, Böhm M, Pliszewski G, Rauch L, Biedermann T, Zink A.   +6 more
europepmc   +1 more source

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher, Charles B. Malpas, Stuart J. McDonald, William T. O’Brien, Craig Despott, Kelly L. Bertram, Matthew P. Pase, Lukas Frontzkowski, Meng Law, Terence J. O’Brien, Lucy Vivash   +10 more
wiley   +1 more source

Testing the cross-cultural measurement invariance of the Penn state worry questionnaire for children (PSWQ-C) across Poland and the United States of America. [PDF]

Sci Rep
Talik EB, Sprung MS, Chorpita BF.
europepmc   +1 more source

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

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

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A Novel Exon Duplication in the <i>SACS</i> Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. [PDF]

Appl Clin Genet
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M.   +8 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source