Results 151 to 160 of about 11,340 (261)

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Rituximab-Induced Remission in Proliferative Glomerulonephritis With Monoclonal Immunoglobulin G Deposits: A Case Report With Serial Kidney Biopsies. [PDF]

Kidney Med
Lim JH, Oh YS, Han MH, Jeon YH, Jung HY, Choi JY, Cho JH, Park SH, Kim CD, Kim YL, Kim YJ.   +10 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Facial Melanosis: A Clinico-Dermoscopic Evaluation and Quality of Life Assessment. [PDF]

Cureus
Yadav A, Nanda A, Gupta S, Mahendra A, Dabhra A.   +4 more
europepmc   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Postoperative Refractory Diarrhea After Margin Accentuation of the Superior Mesenteric Artery with Irreversible Electroporation in Pancreaticoduodenectomy. [PDF]

J Clin Med
Brys EA, Gryspeerdt F, Rashidian N, Lerut AV, Dries P, Abreu de Carvalho L, Berrevoet F.   +6 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Facial Melanosis: A Comprehensive Review of Uncommon and Common Presentations with Personal Experience.

Indian J Dermatol
Sarkar R, Verma D.
europepmc   +1 more source

Fingerprints Encode Risk for Bipolarity. [PDF]

Bipolar Disord
Salvador R, García-León MÁ, Rodriguez-Jimenez R, Del Olmo-Encabo P, Barbosa L, Aquino-Servín A, Sotero-Moreno A, Fatjó-Vilas M, Jaurrieta-Guarner N, Sánchez M, Corte-Souto C, Rojo A, Rebolleda-Gil C, Correa-Ghisays P, Balanzá-Martínez V, Caride-Padilla C, Sarró S, Feria-Raposo I, Sánchez-Cabezudo Á, Jiménez-Rodríguez O, Torres ML, Moreno-Comellas R, Navarro B, Del Olmo-Romero F, Larraz-Romeo JA, Pomarol-Clotet E.   +25 more
europepmc   +1 more source