Adult Onset Familial Cherry-Red Spot Myoclonus

by Chi Kyung Kim, Beom S. Jeon
Published 2009-05-01

Bilateral retinal artery occlusions with carotid artery occlusions-ocular and cerebral hemodynamic changes

by San-Ni Chen, Jeff Huang, Jiunn-Feng Hwang
Published 2020-12-01

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

by Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami
Published 2018-08-01

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

by Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Published 2021-01-01

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1

by Xiaoxu Han, Shijing Wu, Min Wang, Hui Li, Yan Huang, Ruifang Sui
Published 2020-08-01

Optical coherence tomography features in a case of Type I sialidosis

by I-Hua Wang, Ting-Yu Lin, Shu-Ting Kao
Published 2017-01-01

Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case

by Ebru Nur Vanlı Yavuz, Güneş Altıokka, Zeliha Matur, Mikko Muona, Nerses Bebek, Candan Gürses, Anna Elina Lehesjoki, Ayşen Gökyiğit, Betül Baykan
Published 2016-06-01

Reversibility of retinal ischemia due to central retinal artery occlusion by hyperbaric oxygen

by Hadanny A, Maliar A, Fishlev G, Bechor Y, Bergan J, Friedman M, Avni I, Efrati S
Published 2016-12-01

Ophthalmologic findings in patients with neuro-metabolic disorders

by Narjes Jafari, Karl Golnik, Mansoor Shahriari, Parvaneh Karimzadeh, Sayena Jabbehdari
Published 2018-01-01

Central retinal arterial occlusion in a patient with pyoderma gangrenosum

by Koushik Tripathy, Shahana Mazumdar, Barsha Sarma
Published 2018-01-01

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

by Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae
Published 2021-06-01

Enfermedad de Tay-Sachs

by Albia Josefina Pozo Alonso, Desiderio Rafael Pozo Lauzán, Norka Estol de la Guardia, Caridad Menéndez Sainz

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients

by Antonietta Coppola, Marta Ianniciello, Ebru N. Vanli-Yavuz, Settimio Rossi, Francesca Simonelli, Barbara Castellotti, Marcello Esposito, Stefano Tozza, Serena Troisi, Marta Bellofatto, Lorenzo Ugga, Salvatore Striano, Alessandra D’Amico, Betul Baykan, Pasquale Striano, Leonilda Bilo
Published 2020-08-01

Central Retinal Artery Occlusion After Nasosinal Surgery – an Insight

by Chowdhary S, Sawhney V, Pandya A, Sambhav K, Gupta SK
Published 2020-05-01

Central retinal artery occlusion – rethinking retinal survival time

by Stephan Tobalem, James S. Schutz, Argyrios Chronopoulos
Published 2018-04-01

Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction

by Hanon Fukuyo, Yuji Inoue, Hidenori Takahashi, Yu Hatano, Toko Shibuya, Norio Sakai, Hidetoshi Kawashima
Published 2020-07-01

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

by Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova
Published 2021-01-01