Results 41 to 50 of about 354,465 (294)

Retrograde and Anterograde Optic Atrophy

, 2021
Summary: • Optic atrophy represents damage to nerve\u27s axon or cell body o Can happen in the anterograde/orthograde or retrograde direction o Ophthalmoscopic finding of optic atrophy is due to Wallerian degeneration of the optic nerve axon o Results in
Andrew G. Lee, MD; Alicia Chen
core  

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

Unusual ocular manifestation in Wolfram syndrome

Indian Journal of Ophthalmology. Case Reports
Wolfram syndrome (WS), also known as diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), is a rare neurodegenerative disease. Bilateral optic atrophy is the most common ocular manifestation of the syndrome.
Sowmya Raveendra Murthy, Mansi Mistry, Disha Agarwal   +2 more
doaj   +1 more source

Identification and characterization of a gene conferring stress resistance in Escherichia coli and cyanobacteria

FEBS Open Bio, EarlyView.
Functional screening identified PcSyn14890, a cyanobacteria‐specific protein that enhances growth and stress resistance in E. coli and Synechocystis PCC6803. Although we expected it to function as a molecular chaperone, it was unable to protect against thermal aggregation of GAPDH.
Akiyo Yamada, Takaaki Tanaka, Manaka Uehara, Keigo Nakano, Ken Morishima, Rintaro Inoue, Masaaki Sugiyama, Masafumi Yohda   +7 more
wiley   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

American Journal of Ophthalmology Case Reports
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment,
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon   +5 more
doaj   +1 more source

α-Synuclein pathology in post-mortem retina and optic nerve is specific for α-synucleinopathies

npj Parkinson's Disease, 2023
There is increasing interest in studying retinal biomarkers for various neurodegenerative diseases. Specific protein aggregates associated with neurodegenerative diseases are present in the retina and could be visualised in a non-invasive way. This study
Frederique J. Hart de Ruyter, Tjado H. J. Morrema, Jurre den Haan, Gina Gase, Jos W. R. Twisk, Johannes F. de Boer, Philip Scheltens, Femke H. Bouwman, Frank D. Verbraak, Annemieke J. M. Rozemuller, Jeroen J. M. Hoozemans   +10 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Medical management of hereditary optic neuropathies

Frontiers in Neurology, 2014
Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA).
Chiara eLa Morgia, Chiara eLa Morgia, Michele eCarbonelli, Piero eBarboni, Piero eBarboni, Alfredo Arrigo Sadun, Valerio eCarelli, Valerio eCarelli   +7 more
doaj   +1 more source