Results 151 to 160 of about 94,750 (283)

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Preventive Ophthalmology [PDF]

Proceedings of the Royal Society of Medicine, 1966
openaire   +2 more sources

Sex‐specific elevated incidence of glaucoma associated with topiramate versus valproate or lamotrigine in epilepsy, not migraine: A population‐based cohort study

Epilepsia, EarlyView.
Abstract Objective Topiramate has been linked to increased glaucoma risk, potentially through mechanisms involving ocular fluid shifts. However, comparative risks vs other antiseizure medications (ASMs) and variation by sex or indication remain uncertain.
Cuiling Wei, Rachel Yui Ki Chu, Rachel Lancey Lai, Florinda Hui‐Ning Chu, Ian Yu Hin Leung, William Chun Yin Leung, Franco Wing Tak Cheng, Thomas Chi Ho Lam, Ian Chi Kei Wong, Esther Wai Yin Chan, Francisco Tsz Tsun Lai   +10 more
wiley   +1 more source

Pilot Evaluation of a Web Application for Amblyopia Risk Screening Integrating Parent-Reported Factors with AI-Assisted Strabismus Detection. [PDF]

Br Ir Orthopt J
Jaouhari M, El Harrak C, Bentayeb F, Elmerabet Y.   +3 more
europepmc   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

Neovascular glaucoma masked by cerebral hyperperfusion syndrome following carotid artery stent placement: illustrative case. [PDF]

J Neurosurg Case Lessons
Dowaki R, Watanabe Y, Okada Y, Takeishi Y, Takechi A, Ogawa H, Horie N.   +6 more
europepmc   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Paraneoplastic Neuro-Ophthalmologic Symptoms as Initial Manifestation of Hodgkin Lymphoma. [PDF]

Hematol Rep
Seidenfaden SC, Adams TG, Kamper P, Jespersen S, Pedersen MB.   +4 more
europepmc   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Systemic Lupus Erythematosus: Ophthalmological Safety Considerations of Emerging and Conventional Therapeutic Agents. [PDF]

Int J Mol Sci
Luboń W, Luboń M, Agaś-Lange A, Dorecka M.   +3 more
europepmc   +1 more source