Results 211 to 220 of about 16,605,417 (300)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Frequency and Phenotype of Coexisting Aquaporin‐4 and Autoimmune Encephalitis Autoantibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Among 9457 aquaporin‐4 (AQP4) immunoglobulin G‐positive patients, 2071 underwent autoimmune encephalitis antibody testing and 85 (4%) had coexisting antibodies, most commonly cerebrospinal fluid glial fibrillary acidic protein‐IgG and N‐methyl‐D‐aspartate receptor‐IgG, or serum high‐titer GAD65‐IgG.
Laura Cacciaguerra, Binxia Yang, Vanda A. Lennon, Shruti P. Agnihotri, Nusrat Ahsan, Karen S. Fernandez, Erin McLeod, Georgios Mangioris, William R. Meador, Wendy G. Mitchell, Jacqueline A. Nicholas, Amy M. L. Quek, Thomas Shoemaker, Kurt Sieloff, Matt C. Edmond, Rebekah A. Laggis, Kristin L. Flynn, Jessica A. Sagen, Emmanuelle Waubant, John J. Chen, Sarosh R. Irani, Andrew McKeon, Anastasia Zekeridou, Eoin P. Flanagan, Sean J. Pittock, Amy Kunchok   +25 more
wiley   +1 more source

Detecting spiritual pain in electronic medical records using large language models. [PDF]

Support Care Cancer
Masukawa K, Meguro M, Aihara E, Ishida M, Kondo U, Inoue R, Nakayama M, Miyashita M.   +7 more
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

Validation of Large Language Models in Healthcare: a Scoping Review 

de Hond AA, Kuiper RJA, Spiero I, Chen Y, Idema DL, Damen JAA, Smeden Mv, Moons KGM, Leeuwenberg AM.   +8 more
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Improving the Diagnostic Accuracy of Plasma Alzheimer's Disease Biomarkers With Objective and Subjective Cognitive Screening

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Blood‐based biomarkers are increasingly used to identify Alzheimer's disease (AD) pathology and may play an important role in early disease screening and participant selection for clinical trials. However, their performance across stages of cognitive impairment remains unclear. This study examined whether plasma biomarkers differ in
Maryam Abdolmaleki, Leslie S. Gaynor, Dandan Liu, Timothy J. Hohman, Katherine A. Gifford, Henrik Zetterberg, Angela L. Jefferson, Corey J. Bolton   +7 more
wiley   +1 more source