Results 161 to 170 of about 1,344,750 (267)

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Lier J, Ponleitner M, Popp D, Schäfer L, Küstermann F, Meigen C, Kratzer F, Janda J, Okun J, Jamra RA, Köhler W, Bergner C.   +11 more
europepmc   +1 more source

Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias, Federica Avantaggiato, Gianni Pezzoli, Andrea Canessa   +3 more
wiley   +1 more source

Natural history and clinical characteristics of pulmonary subsolid nodules in pediatric patients: a cohort study. [PDF]

Quant Imaging Med Surg
Ren H, Zou Y, Yao R, Wang L, Zhao Y, Liu S, Jiang G, Shen J, Yu H, Wu J.   +9 more
europepmc   +1 more source

Disease Course After Anti‐CD20 Discontinuation in Secondary Progressive Multiple Sclerosis—A Multicenter Long‐Term Longitudinal Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe long‐term outcomes after anti‐CD20 discontinuation in selected patients with secondary progressive multiple sclerosis (SPMS) who remained without subsequent disease‐modifying therapy (DMT). Methods We retrospectively analyzed data from four centers in Austria and Switzerland.
Ferdinand Otto, Dariia Kliushnikova, Richard Friedrich Radlberger, Sinan Yasaroglu, Tobias Moser, Andrea Harrer, Kitty Kratzer, Wolfgang Hitzl, Christiane Gradl, Martin Schmidauer, Patrick Roth, Harald Hegen, Peter Wipfler   +12 more
wiley   +1 more source

Editorial: Risk and protective factors in the natural history of autoimmunity. [PDF]

Front Immunol
Parks CG, Erdei EO, Miller FW.
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

The Natural History of Scheuermann's Kyphosis. [PDF]

J Pediatr Soc North Am
Bennett DM.
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

Unlocking biodiversity data with robotic imaging and AI-driven transcription of natural history collections. [PDF]

Sci Adv
Johnson CA, Willigan EM, Hwang EY, Austin PM, Chang KL, Daly P, Davis A, Gonzalez JM, Kao CN, Mifsud IEJ, Miller KA, Nicolescu M, Ruiz AM, Ruo EY, Schwartzman JL, Seeman AB, Stenzel J, Zurita NC, Berniker LF, Rodríguez E.   +19 more
europepmc   +1 more source