Results 61 to 70 of about 62,463 (295)

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

-Thalamic atrophy in infants with PVL and cerebral visual impairment

, 2006
The aim of this retrospective study was to establish the presence and severity of cerebral visual impairment in preterm infants with PVL. We also wished to establish whether abnormalities of visual function are related to brain MRI findings and more ...
Cesarini, L, Gallini, Francesca, Bianco, F, Rutherford, M, Mercuri, E, Mercuri, Eugenio Maria, Baranello, G, Luciano, R, Braddick, O, Guzzetta, Francesco, Pane, Marika, Ricci, D, Anker, S, Donvito, V, Baranello, Giovanni, Romagnoli, Costantino, Pane, M, Cowan, F, Atkinson, J, Guzzetta, F, Romagnoli, C, Donvito, Valeria, Luciano, Rita Paola Maria, Bianco, Flaviana, Gallini, F   +24 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

, 2020
Inherited optic neuropathies (IONs) are neurodegenerative disorders characterized by optic atrophy with or without extraocular manifestations. Optic atrophy-10 (OPA10) is an autosomal recessive ION recently reported to be caused by mutations in RTN4IP1 ...
Jiahai Shi, Alissa M. D'Gama, England, Eleina M., Alcy R. Torres, Prabhu, Sanjay P., Pankaj B. Agrawal, D'Gama, Alissa M., Eleina England, Jill A. Madden, Chao, Katherine R., Shi, Jiahai, Agrawal, Pankaj B., Gerard T. Berry, Berry, Gerard T., Wen‐Hann Tan, Wojcik, Monica H., Torres, Alcy, Madden, Jill A., Sanjay P. Prabhu, Katherine R. Chao, Monica H. Wojcik, Tan, Wen-Hann   +21 more
core   +1 more source

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

International Medical Case Reports Journal, 2020
Silvana Guerriero,1 Francesco D’Oria,1 Giacomo Rossetti,2 Rosa Anna Favale,1 Stefano Zoccolella,1 Giovanni Alessio,1 Vittoria Petruzzella1 1Department of Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, Bari, Italy ...
Guerriero S, D'Oria F, Rossetti G, Favale RA, Zoccolella S, Alessio G, Petruzzella V   +6 more
doaj  

Changes of Radial Diffusivity and Fractional Anisotopy in the Optic Nerve and Optic Radiation of Glaucoma Patients

The Scientific World Journal, 2012
Purpose of this study was to evaluate with diffusion-tensor imaging (DTI) changes of radial diffusivity (RD) and fractional anisotropy (FA) in the optic nerve (ON) and optic radiation (OR) in glaucoma and to determine whether changes in RD and FA ...
Tobias Engelhorn, Georg Michelson, Simone Waerntges, Marlen Otto, Ahmed El-Rafei, Tobias Struffert, Arnd Doerfler   +6 more
doaj   +1 more source

Modern Technologies in the Examination of Patients with Optic Nerve Atrophy Due to Multiple Sclerosis

Oftalʹmologiâ, 2018
Purpose: to develop an algorithm for testing patients with optic nerve atrophy due to MS using microperimetry with the different functional disorders.Patients and Methods. There were 20 patients (40 eyes) with the correct diagnosis of MS at the age of 33
E. E. Ioyleva, M. S. Krivosheeva, E. Yu. Markova   +2 more
doaj   +1 more source

OPA1-Exon4b modulates the migration and invasion of hepatocellular carcinoma cells by ATP regulation

Mitochondrial Communications, 2023
Optic Atrophy 1 (OPA1), a mitochondrial inner protein, is involved in both mitochondrial fusion dynamic and cell apoptosis. OPA1 Exon4b (OPA1-Exon4b) was reported to be downregulated in hepatocellular carcinoma (HCC).
Haite Tang, Zhijuan Hu, Liang Yang, Zifeng Ruan, Hao Wang, Yunhao Zhou, Feixiang Bao, Xingguo Liu   +7 more
doaj   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source