Results 171 to 180 of about 16,989 (267)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Moving the needle on donation after circulatory death procedures. [PDF]

Hepatobiliary Surg Nutr
Wall A, Testa G.
europepmc   +1 more source

Checks and balances [PDF]

Nature, 1974
openaire   +1 more source

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Commentary on "Protecting Against Unintended Risk From Student Quality Improvement Projects in Health Care". [PDF]

Adv Health Inf Sci Pract
Watzlaf VJM.
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

A staged Bayesian framework for longitudinal prediction of adolescent depression using add health data. [PDF]

BMC Med Res Methodol
Ramezani N, Azugbene EA, Wilson JR.
europepmc   +1 more source

Anti‐CD20 Discontinuation Versus Continuation in People Aged Over 50 With Non‐Active Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether discontinuing anti‐CD20 therapy in people with relapsing‐onset MS aged over 50 is associated with an increased risk of relapse, inflammatory activity, confirmed disability accrual, and serious infection compared with continuing therapy.
Alexia Moukhine, Fabien Rollot, Romain Casey, Nicolas Collongues, Sandra Vukusic, Guillaume Mathey, Anne Laure Dubessy, Jonathan Ciron, Jérôme De Seze, Aurélie Ruet, Pierre Labauge, Arnaud Kwiatkowski, Hélène Zephir, Caroline Papeix, Gilles Defer, Christine Lebrun‐Frenay, David Axel Laplaud, Eric Berger, Eric Thouvenot, Jean Pelletier, Abdullatif Al Khedr, Olivier Casez, Bertrand Bourre, Abir Wahab, Laurent Magy, Jean‐Philippe Camdessanché, Ines Doghri, Solène Moulin, Mariana Sarov Rivière, Karolina Hankiewicz, Amélie Dos Santos, Corinne Pottier, Eric Manchon, Jennifer Aboab, Maia Tchikviladze, Thomas David, Gilles Edan, Emmanuelle Le Page, Laure Michel, Anne Kerbrat, OFSEP Investigators   +40 more
wiley   +1 more source

A transparent universal credit system to incentivize peer review. [PDF]

Proc Natl Acad Sci U S A
Moles A, Bonduriansky R, Bonser S, Falster D, Nakagawa S, Andrew N, Lagisz M.   +6 more
europepmc   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source