Results 51 to 60 of about 161,517 (244)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

The European Network for Translational Research in Atrial Fibrillation (EUTRAF): objectives and initial results. [PDF]

, 2015
Atrial fibrillation (AF) is the most common sustained arrhythmia in the general population. As an age-related arrhythmia AF is becoming a huge socio-economic burden for European healthcare systems. Despite significant progress in our understanding of the
Antoons, G, Camm, AJ, Cartlidge, D, Casadei, B, Dobrev, D, EUTRAF investigators, Fabritz, L, Goette, A, Götsche, T, Hatem, S, Jaïs, P, Kirchhof, P, Kockskämper, J, Lendeckel, U, Müller, F-U, Oto, A, Pieske, B, Ravens, U, Rohr, S, Scherr, D, Schotten, U, Steinmeyer, K, Verheule, S   +22 more
core   +3 more sources

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

Mitigation of Radiation Induced Pulmonary Vascular Injury by Delayed Treatment with Captopril [PDF]

, 2012
Background and Objective: A single dose of 10 Gy radiation to the thorax of rats results in decreased total lung angiotensin-converting enzyme (ACE) activity, pulmonary artery distensibility and distal vascular density while increasing pulmonary ...
Fish, Brian L., Jacobs, Elizabeth R., Medhora, Meetha M., Molthen, Robert C., Moulder, John E., Wu, QingPing   +5 more
core   +2 more sources

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau, Anna Lyndaker, Swati Shah, Paul Wakim, Amelia Mitchell, Cynthia Monroe, Alan Kim, Tracy L. Cropper, Govind Nair, Joseph Snow, Bryan R. Smith, Avindra Nath, Dima A. Hammoud   +12 more
wiley   +1 more source

Stimulant drug effects on attention deficit/hyperactivity disorder: a review of the effects of age and sex of patients [PDF]

, 2010
Objective: As dopamine functioning varies by sex and age it might be expected that the effects of methylphenidate or amfetamine, the psychostimulants used for the treatment of Attention Deficit /Hyperactivity Disorder (ADHD), will also be moderated by ...
Barke, Edmund, Coghill, David, Cornforth, Christine   +2 more
core   +1 more source

Pregnancy Outcomes of Targeted Synthetic Disease‐Modifying Antirheumatic Drugs Among Patients With Autoimmune Diseases: A Scoping Review

Arthritis Care &Research, EarlyView.
Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng, Neda Amiri, Vicki Cheng, Ursula Ellis, Jacquelyn J. Cragg, Mark Harrison, Laurie Proulx, Mary A. De Vera   +7 more
wiley   +1 more source

Synaptic proteins promote calcium-triggered fast transition from point contact to full fusion. [PDF]

, 2012
The molecular underpinnings of synaptic vesicle fusion for fast neurotransmitter release are still unclear. Here, we used a single vesicle-vesicle system with reconstituted SNARE and synaptotagmin-1 proteoliposomes to decipher the temporal sequence of ...
Brunger, Axel T, Chu, Steven, Cipriano, Daniel J, Diao, Jiajie, Grob, Patricia, Kyoung, Minjoung, Nguyen, Amie, Nogales, Eva, Padolina, Mark, Shah, Ankita, Shah, Sachi, Srivastava, Ankita, Vrljic, Marija, Zhang, Yunxiang   +13 more
core   +1 more source

Patient Perceptions of Medication Therapy for Prevention of Posttraumatic Osteoarthritis Following Anterior Cruciate Ligament Injury: A Qualitative Content Analysis

Arthritis Care &Research, EarlyView.
Objective Posttraumatic osteoarthritis (PTOA) accounts for nearly 12% of osteoarthritis incidences and often occurs after anterior cruciate ligament (ACL) tear. Ensuring the uptake of preventive treatments for PTOA requires that investigators and clinicians understand factors influencing patients to seek preventive therapies.
Lily M. Waddell, Donald P. Mitchener, Kelly C. Frier, Morgan H. Jones, Elena Losina, Nick Bansback, Liana Fraenkel, Jason S. Kim, Jeffrey N. Katz, Faith Selzer, Adam Easterbrook   +10 more
wiley   +1 more source

Neural Correlates of Swimming Behavior in Melibe leonina [PDF]

, 2002
The nudibranch Melibe leonina swims by rhythmically bending from side to side at a frequency of 1 cycle every 2–4 s. The objective of this study was to locate putative swim motoneurons (pSMNs) that drive these lateral flexions and determine if swimming ...
Newcomb, James M., Thompson, Stuart, Watson, Winsor H., III   +2 more
core   +2 more sources