Results 281 to 290 of about 3,893,490 (356)

Comparison of SARS-CoV-2 variant pathogenicity in a long-COVID Syrian hamster model. [PDF]

Virus Res
Naghibosadat M, Hahn E, Molinaro S, Babuadze G, Kozak R.   +4 more
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Genetic Architecture of Cognitive Resilience in Alzheimer's Disease: Mechanisms, Pathways, and Therapeutic Implications. [PDF]

Neurol Int
Burdman G, Akkaoui J, Colon N, Perez A, Lakshmana MK.   +4 more
europepmc   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Richter-like transformation of CLL/SLL after a temporary hold of ibrutinib: A case report. [PDF]

Leuk Res Rep
Chiang TL, Frater J, Cashen A.
europepmc   +1 more source

Head-to-head comparison of brain-derived pTau217 and total pTau217 for brain amyloid and tau pathology classification. [PDF]

Proc Natl Acad Sci U S A
Jiang Y, Zheng W, Xia Z, Wong WW, Cheng LKW, Ip FC, Choi SM, Chan ALT, Lam CY, Ho KS, Shum CK, Yuen JKY, Shea YF, Wai HM, Mok VCT, Kwok TCY, Mok KY, Wong HY, Zetterberg H, Fu AKY, Ip NY.   +20 more
europepmc   +1 more source