Results 101 to 110 of about 526,061 (257)

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Interaction of Intraprocedural Antiplatelets and Intravenous Thrombolysis in Acute Intracranial Stenting: RESISTANT Registry Subanalysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction/Objective Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.
Aaron Rodriguez‐Calienes, Leonardo Cruz‐Criollo, Eric Kontowicz, Marta Olivé‐Gadea, Francesco Diana, Johannes Kaesmacher, Adnan Mujanovic, Serdar Geyik, Songul Senadim, Amedeo Cervo, Andrea Salcuni, Mariangela Piano, Manuel Moreu, Alfonso López‐Frías, Ameer E. Hassan, Samantha Miller, Elena Zapata‐Arriaza, Asier de Albóniga‐Chindurza, Mauro Bergui, Stefano Molinaro, João André Sousa, Fábio Gomes, João Sargento‐Freitas, Andrea Alexandre, Alessandro Pedicelli, Jeremy Hofmeister, Paolo Machi, Luca Scarcia, Erwah Kalsoum, Jose Amorim, Torcato Meira, Leonardo Renieri, Francesco Capasso, Daniele Romano, Eduardo Bárcena‐Ruiz, David Seoane, Mohamad Abdalkader, Piers Klein, Thanh N. Nguyen, Catarina Perry da Câmara, Anderson Brito, Nashwa Abdelhakim, Isabel Fragata, Dileep R. Yavagal, Jude H. Charles, Jose Rodriguez Castro, Pedro Vega, Atilla Özcan Özdemir, Zehra Uysal Kocabaş, Stanislas Smajda, Sadiq Al Salman, Jane Khalife, Tudor G. Jovin, Francesco Biraschi, Francesca Richetti, Pedro Castro, Luis Albuquerque, Adnan Siddiqui, Vinay Jaikumar, Pedro Navia, Nikolaos Ntoulias, Marios Psychogios, Mariano Velo, Joaquín Zamarro, Gonzalo de Paco, Yazan Ashouri, Mohammad AlMajali, Juan F. Arenillas, Alicia Sierra, Michele Romoli, João Pedro Marto, Shadi Yaghi, Marc Ribo, Alejandro Tomasello, Manuel Requena, Santiago Ortega‐Gutierrez   +75 more
wiley   +1 more source

Integrating Time‐Adjusted Imaging Instability Into Functional Outcome Prediction After Intracerebral Hemorrhage: Development and Validation of the HAGIV Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song, Ren Ke, Anqi Chen, Yufei Fu, Hang Zhou, Rujia Wang, Liwei Zou, Yongqiang Yu, Ming Yuan, Xiaoming Qiu, Mengzhou Xue   +10 more
wiley   +1 more source

Apreciaciones sobre la clasificación internacional de enfermedades

Revista Cubana de Higiene y Epidemiología
Se presentó sumariamente la evolución histórica de la Clasificación Internacional de Enfermedades (CIE) hasta llegar a la actual décima revisión, de esta se hicieron apreciaciones específicas sobre las dificultades y limitaciones que se presentan en su ...
Félix Rodríguez Jústiz, Andrés Fernández Núñez, Alberto Baly Gil   +2 more
doaj  

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

REVISION OF THE INTERNATIONAL CLASSIFICATION OF DISEASES [PDF]

Journal of Epidemiology & Community Health, 1971
  +5 more sources

Strategic pathways to International Classification of Diseases, 11th Revision, adoption in France and the United States. [PDF]

Health Aff Sch
Boussat B, Jakob R, Boyer L, Romano PS.
europepmc   +2 more sources