Results 181 to 190 of about 23,848 (306)

Detection and Prediction of Epileptic Seizures [PDF]

, 2013
Duun-Henriksen, Jonas
core  

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

Refractory left main coronary vasospasm and electrical storm in a transgender woman: a case report. [PDF]

Eur Heart J Case Rep
Jafry AH, Ranganathan K, Kanwar M, Khalil R, Poornima I.   +4 more
europepmc   +1 more source

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

Muscle-Invasive Bladder Paraganglioma: Case Report and Comprehensive Literature Review. [PDF]

Cureus
Escalante-Armenta R, Blanco-Gonzalez J, Hernandez-Gaytan CA, Lagos Beitz HE, Trujillo-Martinez G, Martínez-Delgado GH, Bautista Martinez B, Arista J, Castillejos-Molina RA.   +8 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

Coronary Button Pseudoaneurysm Resolution After Aortic Root Replacement Upon Cessation of Anticoagulation. [PDF]

JACC Case Rep
Bougioukas L, Jarral OA, Shi WY.
europepmc   +1 more source

Heart Rate Variability and Atria Function in Children at Late Follow-Up Evaluation After Atrioventricular Node Slow-Pathway Radiofrequency Ablation [PDF]

, 2011
Rima Sileikiene, Jolanta Vaskelyte, Vaida Mizariene, Irena Nedzelskiene, Raimonda Verseckaite, Renaldas Jurkevicius, Dalia Baksiene, Viktorija Sileikyte, Rimantas Kevalas   +8 more
core   +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

Country-Specific Data and Priorities for Pertussis in Latin America: Recent Findings From the Global Pertussis Initiative. [PDF]

Open Forum Infect Dis
Ulloa-Gutierrez R, Hozbor D, Avila-Aguero ML, Echániz-Aviles G, Gentile A, Torres Torretti JP, Heininger U, Muloiwa R, Wirsing von König CH, Forsyth K, Tan TQ.   +10 more
europepmc   +1 more source