Results 11 to 20 of about 463,034 (316)

Multiple sclerosis clinical decision support system based on projection to reference datasets

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1863-1873, December 2022., 2022
Abstract Objective Multiple sclerosis (MS) is a multifactorial disease with increasingly complicated management. Our objective is to use on‐demand computational power to address the challenges of dynamically managing MS. Methods A phase 3 clinical trial data (NCT00906399) were used to contextualize the medication efficacy of peg‐interferon beta‐1a vs ...
Chadia Ed‐driouch, Florent Chéneau, Françoise Simon, Guillaume Pasquier, Benoit Combès, Anne Kerbrat, Emmanuelle Le Page, Sophie Limou, Nicolas Vince, David‐Axel Laplaud, Franck Mars, Cédric Dumas, Gilles Edan, Pierre‐Antoine Gourraud   +13 more
wiley   +1 more source

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima, Satoshi Ito, Akira Kushida, Aki Abe, Wataru Motsuchi, David Verbel, Manu Vandijck, Geert Jannes, Ina Vandenbroucke, Katsumi Aoyagi   +9 more
wiley   +1 more source

Does long‐term phenytoin have a place in Dravet syndrome?

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2036-2040, December 2022., 2022
Abstract Anti‐seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium‐channel blocker phenytoin, which is often used for status epilepticus, a frequent feature of Dravet syndrome.
George A. Zographos, Sophie J. Russ‐Hall, Ingrid E. Scheffer   +2 more
wiley   +1 more source

Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022
Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh, Rachel S. Kasper, Jessie Sanford, Chia‐Ling Phuah, Jason Hassenstab, Carlos Cruchaga   +5 more
wiley   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

COVID‐19 and the risk of Alzheimer's disease, amyotrophic lateral sclerosis, and multiple sclerosis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1953-1961, December 2022., 2022
Abstract Background The coronavirus disease 2019 (COVID‐19) pandemic has had an unprecedented impact on the healthcare system, economy, and society. Studies have reported that COVID‐19 may cause various neurologic symptoms, including cognitive impairment.
Hanyu Zhang, Zengyuan Zhou
wiley   +1 more source

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel   +7 more
wiley   +1 more source

Psychometric evaluation of a parent-rating and self-rating inventory for pediatric obsessive-compulsive disorder: German OCD Inventory for Children and Adolescents (OCD-CA)

Child and Adolescent Psychiatry and Mental Health, 2019
Background This study assesses the psychometric properties of the German version of the Padua Inventory-Washington State University Revision for measuring pediatric OCD. Methods The parent-rating and self-rating inventory is assessed in a clinical sample
Julia Adam, Hildegard Goletz, Svenja-Kristin Mattausch, Julia Plück, Manfred Döpfner   +4 more
doaj   +1 more source

Bottom-up transdiagnostic personality subtypes are associated with state psychopathology: A latent profile analysis

Frontiers in Psychology, 2023
IntroductionPersonality-based profiling helps elucidate associations between psychopathology symptoms and address shortcomings of current nosologies. The objective of this study was to bracket the assumption of a priori diagnostic class borders and apply
Helo Liis Soodla, Helo Liis Soodla, Kirsti Akkermann, Kirsti Akkermann   +3 more
doaj   +1 more source