Results 91 to 100 of about 29,975,358 (298)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Analyzing the ophthalmic red reflex test in children with congenital Zika syndrome [PDF]

Revista Brasileira de Oftalmologia
Objective: To evaluate the red reflex test in children with congenital Zika syndrome in order to predict the occurrence of retinal lesion or optic nerve hypoplasia in these patients.
Marcia Beatriz Tartarella, Islane Maria Castro Verçosa, Paloma Castro Verçosa, Paula Carneiro, Reno Castro Verçosa, Eduarda Tartarella-Nascimento, Luciano Pamplona de Goés Cavalcanti, Erlane Marques Ribeiro, João Borges Fortes Filho   +8 more
doaj   +1 more source

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi, Mohanad A. Alkuwaiti, Yazeed B. Alaql, Ahmed K. Alsaif, Ahmed A. Alessa, Meshari Ayed Alharbi, Mohammed Alfalah, Saud A. Alnaaim, Sajjad M. AlHaddad, Ahmed Y. Azzam   +9 more
wiley   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Dynamics Simulation of Remotely Operated Vehicle-Fiber Optic Micro Cable System [PDF]

, 2008
Li Q, Xu H, Zhang Q, Wang X, Li ZG. Dynamics Simulation of Remotely Operated Vehicle-Fiber Optic Micro Cable System.
Li, ZhiGang, Li ZG(李智刚), Xu, Hongli, Zhang QF(张奇峰), Qiang Li, Li, Qiang ; https://orcid.org/, Wang, Xiaohui, Xiaohui Wang, Zhigang Li, Wang XH(王晓辉), Hongli Xu, Qifeng Zhang, Zhang, Qifeng, Li Q(李强), Xu HL(徐红丽)   +14 more
core   +1 more source

dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia

, 2023
Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an
Yuri Seo, Jinu Han, Hyun Taek Lim, Byung Joo Lee   +3 more
core   +1 more source

Peripapillary Halo in Inflammatory Papillitis of Birdshot Chorioretinopathy

Clinical Ophthalmology, 2021
Mohamed M Khodeiry,1,2 Xiangxiang Liu,1,3 Mohamed S Sayed,1 Raquel Goldhardt,1 Giovanni Gregori,1 Thomas A Albini,1 Richard K Lee1 1Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, FL, 33136,
Khodeiry MM, Liu X, Sayed MS, Goldhardt R, Gregori G, Albini TA, Lee RK   +6 more
doaj  

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source

Optic Atrophy Secondary to Ophthalmic Artery Aneurysm

, 2023
Optic neuropathy caused by an aneurysm is rare, with an incidence of 1.4% among patients with an aneurysm. Aneurysms typically rupture before becoming large enough to compress the sensory visual pathways.
Christopher Sesi; Poonam Bansal
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