Results 71 to 80 of about 29,682 (236)

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Bietti crystalline dystrophy complicated by choroidal neovascularization treated with a single dose of aflibercept

Oman Journal of Ophthalmology, 2023
Bietti crystalline dystrophy is a rare hereditary autosomal recessive disease that causes photoreceptor loss secondary to degeneration of retinal pigment epithelium due to intracellular retinal pigment epithelial crystalline deposits and abnormal lipid ...
Merve Ozbek, Seren Pehlivanoglu, Halil Ozgur Artunay   +2 more
doaj   +1 more source

Nanopore direct RNA sequencing and the epitranscriptome: Advances in mapping native RNA landscapes

iMeta, EarlyView.
Nanopore direct RNA sequencing advances transcriptomics by capturing full‐length transcripts and multiple RNA modifications; this review details its principles, workflows, tools, applications, challenges, and future research potential. Abstract Nanopore direct RNA sequencing (DRS) has transformed transcriptomics by enabling single‐molecule, long‐read ...
Tianyuan Zhang, Jia Li, Chao Tang, You Wu, Hao Wu, Xi‐Tong Zhu, Ziyang Luo, Hang Qin, Lishan Ding, Yu Zeng, Shiou Yih Lee, Xiaotao Shen, Shiwen Gao, Zhaoyang Tian, Qian Tang, Mian Li, Muhammad Tahir Ul Qamar, Yang Dong, Komivi Dossa, Yaxuan Zhang, Hu Chen, Sanqi An, Xiang Yu, Lu Chen, Dingjie Wang, Shengli Li, Ling‐Ling Chen, Yanqiang Li   +27 more
wiley   +1 more source

Retinal Structure in RPE65-Associated Retinal Dystrophy [PDF]

, 2020
PURPOSE: RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals.
Kumaran, N, Michaelides, M, Larsen, M, Kalitzeos, A, Bainbridge, JWB, Georgiou, M, Ayuso, C, Munier, FL, Tran, HV, Bertelsen, M, Blanco-Kelly, F   +10 more
core  

Macular cysts in bietti crystalline dystrophy

TNOA Journal of Ophthalmic Science and Research, 2022
Bietti crystalline dystrophy (BCD) is a rare autosomal disorder characterized by the presence of intraretinal crystalline deposits and later chorioretinal degeneration. We describe a case of BCD with macular cysts.
Syed Mohideen Abdul Khadar, Jahnara Jaffar, Adheesh P Shetty   +2 more
doaj   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

microRNAs and inherited retinal dystrophies [PDF]

Proceedings of the National Academy of Sciences, 2015
Inherited retinal dystrophies (IRD) are a heterogeneous group of blinding diseases that affect more than 200,000 Americans and millions worldwide (1). Identification of genes that are responsible for IRD when defective is of great importance to the basic understanding as well as development of efficient gene diagnosis and treatment.
openaire   +2 more sources

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B., Rizzi, M, Nishiguchi, KM, James W. B. Bainbridge, Kate Powell, Joana Ribeiro, Duran, Y, Ribeiro, J, Powell, K, Luhmann, UF, Azam, Selina A., Yanai Duran, Rizzi, Matteo, Livia S. Carvalho, Smith, Alexander J., Holthaus, Sophia Martha Kleine, Robin R. Ali, Ulrich F. O. Luhmann, Carvalho, Livia S., Er J. Smith, Koji M. Nishiguchi, Powell, Kate, Matteo Rizzi, Selina A. Azam, Carvalho, LS, Ali, RR, Holthaus, SM, Sophia-martha Kleine Holthaus, Bainbridge, JW, Ali, Robin R.; id_orcid, Luhmann, Ulrich F.O., Duran, Yanai, Azam, SA, Ribeiro, Joana, Smith, AJ, Nishiguchi, Koji M.   +35 more
core   +1 more source