Results 231 to 240 of about 1,253,698 (305)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Editorial: Unconscious monitoring of physiological information for behavioral changes in daily life: advances in sensor technology and data analysis. [PDF]

Front Digit Health
Tamura T, Chen W, Nakajima K, Liu SH.
europepmc   +1 more source

Quantity and Volume of Perivascular Spaces Are Inversely Associated With Multiple Sclerosis Relative to Cerebrovascular Disease and Migraine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify the number and volume of whole brain perivascular spaces (PVS) using a detection and segmentation algorithm in participants with multiple sclerosis (MS) and patients with disorders mimicking MS known to potentially influence PVS, such as cerebrovascular disease.
Elle M. Levit, Elizabeth A. Horwath, Daniel L. Schwartz, Lisa C. Silbert, Russell T. Shinohara, Andrew J. Solomon   +5 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +1 more source

A Multi‐Center Retrospective Cohort Study of Neurosarcoidosis Myelitis: Current Observations and Future Directions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.
Giovanna S. Manzano, Denis Balaban, Yihan Zhang, Brian Healy, Bart K. Chwalisz, Michael Levy, Nagagopal Venna, Barney J. Stern, Carlos A. Pardo, Paula Barreras, Nicole Bou Rjeily, Eoin P. Flanagan, Vyanka Redenbaugh, Allen J. Aksamit Jr., Spencer Hutto, Max Herman, Sally El Sammak, Elsa C. Rodriguez, Laura Snider, Hannah Rains, Mayra Montalvo, Torge Rempe, Sergi Martinez Ramirez, Lucas Horta, Stacey Clardy, Jennifer Lord, Tracey A. Cho, Lama Abdel Wahed, Joseph R. Berger, Rohini D. Samudralwar, Noellie Rivera Torres, David B. Clifford, Steven Richard Dunham, Masoud Majed, Aram Zabeti, Samuel Marcucci, Yang Mao‐Draayer, Jon Doty, Paunel B. Agyei, Shamik Bhattacharyya   +39 more
wiley   +1 more source

Copyright and creative commons licenses in scholarly publishing: A practical guide for researchers. [PDF]

J Clin Imaging Sci
Mondal H.
europepmc   +1 more source

RETRACTION: Effect of Possible Risk Factors for Pharyngocutaneous Fistula after Total Laryngectomy of Laryngeal Carcinomas and Surgical Wound Infection: A Meta-Analysis. [PDF]

Int Wound J
europepmc   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Editorial Board and Publisher Information

Microbiology Indonesia, 2015
doaj