Results 181 to 190 of about 1,683,430 (357)

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

Correction: Rapid Diagnosis of Lung Tumors, a Feasability Study Using Maldi-Tof Mass Spectrometry

, 2016
Geoffrey Brioude, Fabienne Brégeon, Delphine Trousse, Christophe Flaudrops, Véronique Secq, Florence De Dominicis, Éric Chabrière, Xavier Benoît D’Journo, Didier Raoult, P. Thomas   +9 more
openalex   +2 more sources

Accuracy and diagnostic utility of squash smear in rapid intraoperative diagnosis of CNS tumor in tertiary care center - A 100 case study [PDF]

, 2020
Vidhi Shah, Smita Shah, Hansa Goswami
openalex   +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

Rapid diagnosis of Lemierre's syndrome by metagenomic next-generation sequencing: a case report. [PDF]

Front Med (Lausanne)
Wang Y, Zhang X.
europepmc   +1 more source

Evaluation of the OptiMAL Test for Rapid Diagnosis of Malaria

, 2003
Ioa Ujah, EI Ikeh, RH Glew, D.J. VanderJagt   +3 more
openalex   +2 more sources

Rapid culture-based diagnosis of pulmonary tuberculosis in developed and developing countries [PDF]

, 2015
Shady Asmar, Michel Drancourt
openalex   +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

Rapid diagnosis of viral infections and application to infection control. [PDF]

BMC Infect Dis
Endo M, Tokuyama-Toda R, Shirota T, Satomura K.   +3 more
europepmc   +1 more source

Evaluation of an immunochromatography rapid diagnosis kit for detection of chikungunya virus antigen in India, a dengue-endemic country [PDF]

, 2018
Jaspreet Jain, Tamaki Okabayashi, Navjot Kaur, Emi E. Nakayama, Tatsuo Shioda, Rajni Gaind, Takeshi Kurosu, Sujatha Sunil   +7 more
openalex   +1 more source