Results 251 to 260 of about 6,054,606 (318)

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

Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade, Nha Trang Thu Pham, Sarah M. Boland, Heather M. Clark, Joseph R. Duffy, Jennifer L. Whitwell, Hugo Botha, Keith A. Josephs, Rene L. Utianski   +8 more
wiley   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Brain Characteristics in Patients With Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disorder by 7.0 Tesla MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su, Joseph Kuchling, Chenyang Gao, Thoralf Niendorf, Carsten Finke, Zhe Zhang, Ai Guo, Jing Jing, De‐Cai Tian, Yu‐Jing Li, Mengting Zhang, Xiaoyu Shi, Xinyao Liu, Huabing Wang, Yaou Liu, Claudia Chien, Michael Levy, Yunyun Duan, Friedemann Paul, Fu‐Dong Shi   +19 more
wiley   +1 more source

EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke, Loretta Norton, Catherine Duclos, Miriam Han, Kira Dolhan, Geoffrey Laforge, Allison Frantz, Xiaoyu Wang, Hassan Al‐Hayawi, Tianyu Zhang, Raphaël Lavoie, Adrian M. Owen, Stefanie Blain‐Moraes   +12 more
wiley   +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

Effects of Pharmacologic and Nonpharmacologic Interventions for the Management of Sleep Problems in People With Fibromyalgia: Systematic Review and Network Meta‐Analysis of Randomized Controlled Trials

Arthritis Care &Research, EarlyView.
Objective Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain and fatigue. Almost everyone with fibromyalgia has sleep problems. We aimed to evaluate the effectiveness and safety of current interventions for the management of fibromyalgia‐related sleep problems.
Jemma Hudson, Mari Imamura, Clare Robertson, Daniel Whibley, Lorna Aucott, Katie Gillies, Paul Manson, Debra Dulake, Abhishek Abhishek, Nicole K. Y. Tang, Gary J. Macfarlane, Miriam Brazzelli   +11 more
wiley   +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