Results 221 to 230 of about 613,864 (293)
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann +47 morewiley +1 more sourcePerformance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...Ludwig Kappos, Sean Yiu, Jason Reucassel, Jiwon Oh, Cristina Granziera, Joep Killestein, Robert A. Bermel, Claude Berge, Agne Kazlauskaite, Hans‐Martin Schneble, Frank Dahlke, Bruce A. C. Cree +11 morewiley +1 more sourceSeasonal influenza vaccination: A global review of national policies in 194 WHO member states in 2022.
VaccineGoldin S, Brooks D, Jorgensen P, Wijesinghe P, Cho H, Attia R, Doshi R, Nogareda F, Herring B, Dumolard L, Gibson R, Chadwick C, Desai S, Vilajeliu A, Lindstrand A, Tempia S, Mott J, Hess S. +17 moreeuropepmc +1 more sourceGlial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.Ti Wu, Hao Zhang, Chao Gao, Qiuhua Yu, Moli Fan, Lin‐Jie Zhang, Haipeng Zhang, Hengri Cong, Yuzhen Wei, Chotima Böttcher, Alexej Verkhratsky, Friedemann Paul, Fu‐Dong Shi, Tian Song +13 morewiley +1 more sourceEarly Intensive Versus Escalation Approach: Ten‐Year Impact on Disability in Relapsing Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To evaluate the long‐term impact of early intensive treatment (EIT) versus escalation (ESC) strategies using high‐efficacy disease‐modifying therapies (HE‐DMTs) on disability progression in relapsing multiple sclerosis (RMS). Methods
This observational study included 4878 RMS patients from the Italian Multiple Sclerosis Register ...Pietro Iaffaldano, Giuseppe Lucisano, Tommaso Guerra, Francesca Caputo, Marta Simone, Massimiliano Copetti, Damiano Paolicelli, Emilio Portaccio, Francesco Patti, Paola Perini, Vincenzo Brescia Morra, Alessia Di Sapio, Matilde Inglese, Carlo Pozzilli, Giacomo Lus, Giuseppe Salemi, Erica Curti, Giovanna De Luca, Paola Valentino, Eleonora Cocco, Paola Cavalla, Carlo Avolio, Alessandra Lugaresi, Antonio Gallo, Pietro Annovazzi, Maria A. Rocca, Clara Grazia Chisari, Massimo Filippi, Maria Pia Amato, Maria Trojano, on behalf of the Italian MS Register, Beatrice Biolzi, Daniele Dell’Anna, Daniele Di Giulio Cesare, Sonia Di Lemme, Chiara Di Tillio, Teresa Fonsdituri, Ilaria Maietta, Agata Marchese, Silvia Marinetto, Federica Martini, Cristiana Morano, Silvia Perugini, Giovanna Ramona Piredda, Chiara Raimondi, Ilaria Rossi, Valentina Tallarico, Stefania Treccarichi +47 morewiley +1 more sourceRemaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods
Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye +8 morewiley +1 more sourceAmerican College of Rheumatology Guidance Statements for Addressing Mental Health Concerns in Youth With Pediatric Rheumatologic Diseases
Arthritis Care &Research, EarlyView.Objective
Pediatric rheumatologic diseases (PRDs) are characterized by high rates of anxiety and depression known to impact health‐related outcomes. We present guidance statements to assess and manage mental health concerns for youth with PRDs in pediatric rheumatology practice.Natoshia R. Cunningham, Ashley N. Danguecan, Samantha L. Ely, Yaa Amponsah, Alaina Davis, Suzanne Edison, Julia Harris, Jordan T. Jones, Alana Goldstein‐Leever, Alison Manning, Anne McHugh, Crystal Mui, Ekemini Ogbu, Nikki Reitz, Martha Rodriguez, Natalie Rosenwasser, Alyse Tankanow, Erin Treemarcki, Katherine Winner, Tamar B. Rubinstein, Andrea M. Knight, for the CARRA Mental Health Workgroup +21 morewiley +1 more sourceJuvenile Idiopathic Arthritis, Earnings, and Work Loss: A Nationwide Matched Cohort Study
Arthritis Care &Research, EarlyView.Objective
This study compares trajectories of earnings and work loss in individuals with juvenile idiopathic arthritis (JIA) versus matched comparators from the general population. Methods
Patients with JIA (n = 4,737) were identified in the Swedish National Patient Register (2001–2017) and individually matched to up to five general population ...Heather Miller, Martin Neovius, Erik Sundberg, Johan Askling, Gustaf Bruze +4 morewiley +1 more source