Results 221 to 230 of about 3,286,446 (340)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Editorial Vol. 32. Núm. 2. 2024

Educación Química
Aurora Ramos Mejía
doaj   +1 more source

Return-to-sport outcomes after primary and revision anterior cruciate ligament reconstruction using quadriceps tendon autografts in highly active male athletes. [PDF]

J Exp Orthop
Olsen CK, Feller JA, Klemm HJ, Webster KE.   +3 more
europepmc   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Bleb Revision Using an L-shaped Conjunctival Flap Posterior to the Limbus in Eyes With Bleb Failure After PreserFlo MicroShunt Implantation. [PDF]

Cureus
Maruyama K.
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Sección Salud Mental Perinatal

Psicosomática y Psiquiatría
Gracia Lasheras, Marta de Gracia de Gregorio, Borja Farré-Sender, M. Luisa Imaz, Laia Molinero, Bruma Palacios-Hernández, Cristina Sanz, Elena Serrano-Drozdowskyj   +7 more
doaj   +1 more source

Recommendations on Screening for Chloroquine and Hydroxychloroquine Retinopathy (2016 Revision).

Ophthalmology (Rochester, Minn.), 2016
M. Marmor, U. Kellner, T. Lai, R. Melles, W. Mieler   +4 more
semanticscholar   +1 more source

Modulating Micrococcal Nuclease-Triggered Antibiotic Releases for One-Stage Revisions of <i>Staphylococcus aureus</i>-Infected Prostheses. [PDF]

ACS Infect Dis
Skelly JD, Chen F, Song J.
europepmc   +1 more source