Results 181 to 190 of about 306,932 (310)

The importance of dynamic reanalysis In diagnostic whole exome sequencing [PDF]

, 2016
Goldstein, DB, Need, AC, Petrovski, SP, Schoch, K, Shashi, V   +4 more
core   +1 more source

Relationships between bleeding assessment tools (ISTH-BAT, Self-BAT) and quality of life in patients with bleeding symptoms. [PDF]

Res Pract Thromb Haemost
Berkowitz C, Goraya SK, Stover AM, Boynton MH, Ma A, Key NS.   +5 more
europepmc   +1 more source

Network Localization of Fatigue in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo, Jaakko Kungshamn, Albert Bellmunt‐Gil, Silvia Tommasin, Abhineet Ojha, Matias Viitala, Juho Aaltonen, Jyrki Lötjönen, Juha Koikkalainen, Pauli Ylikotila, Patrizia Pantano, Merja Soilu‐Hänninen, Juho Joutsa   +12 more
wiley   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Preoperative Hemostatic Management for Refractory Abnormal Uterine Bleeding in Patients With von Willebrand Disease: A Case Report. [PDF]

Case Rep Obstet Gynecol
Hiksas R, Novianti L, Permatasari II, Elsiyana TA, Puspawardani AR, Harzif AK.   +5 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

Progress in purebred dog health since the Bateson report of 2010 [PDF]

, 2014
O'Neill, D G
core   +2 more sources

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +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

A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report. [PDF]

Medicine (Baltimore)
Wen R, Tian J.
europepmc   +1 more source