Results 131 to 140 of about 5,884 (248)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Quantitative spatial analysis of crystallin proteins in human lens epithelial cells. [PDF]

Sci Rep
Cristoforetti A, Baldessari G, Chychko L, Chust IB, Sartori S, Schickhardt S, Ravelli F, Bertoluzza S, Carl M, Sel S, Auffarth GU, Poggi L.   +11 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Prueba de cabecera para la valoración de la troponina de alta sensibilidad. Experiencia en el laboratorio clínico de un hospital terciario. [PDF]

Adv Lab Med
El Amrani S, Tossens B, Van Belle L, Gonda J, Midoun S, Beauloye C, Gruson D.   +6 more
europepmc   +1 more source

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

Genetic regulation of sperm DNA methylation in cattle through meQTL mapping. [PDF]

BMC Genomics
Fouéré C, Costes V, Hozé C, Raja Ravi Shankar A, Besnard F, Costa Monteiro Moreira G, Sorin V, Le Danvic C, Chaulot-Talmon A, Ali F, Deloche MC, Bonnet A, Sellem E, Jammes H, Fritz S, Boussaha M, Boichard D, Kiefer H, Sanchez MP.   +18 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

Evaluación del análisis de la relación albúmina-creatinina mediante tira reactiva como método de cribado para la determinación de albúmina en orina en atención primaria. [PDF]

Adv Lab Med
Liébanas García P, Montolio Breva S, Sans Mateu T.   +2 more
europepmc   +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

Author Correction: To boldly go where no microRNAs have gone before: spaceflight impact on risk for small-for-gestational-age infants. [PDF]

Commun Biol
Corti G, Kim J, Enguita FJ, Guarnieri JW, Grossman LI, Costes SV, Fuentealba M, Scott RT, Magrini A, Sanders LM, Singh K, Sen CK, Juran CM, Paul AM, Furman D, Calleja-Agius J, Mason CE, Galeano D, Bottini M, Beheshti A.   +19 more
europepmc   +1 more source