Academic Content and Language Evaluation of This Article
Citation of this article
Corresponding Author of This Article
Research Domain of This Article
Article-Type of This Article
Open-Access Policy of This Article
Times Cited Counts in Google of This Article
Number of Hits and Downloads for This Article
- Total Article Views (16165)
All Articles published online
|
Featured Article
|
Publishing Process of This Article
|
Feb 16, 2015 (publication date) through Nov 26, 2024
Times Cited of This Article
Journal Information of This Article
Publication Name
World Journal of Clinical Cases
ISSN
2307-8960
Publisher of This Article
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| For: | Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases 2015; 3(2): 112-124 [PMID: 25685757 DOI: 10.12998/wjcc.v3.i2.112] |
|---|---|
| URL: | https://www.wjgnet.com/2307-8960/full/v3/i2/112.htm |
| Number | Citing Articles |
| 1 |
Enrique Gallego-Colon, Maria Villalba, Joanne Tonkin, Francisco Cruz, Juan Antonio Bernal, Luis J Jimenez-Borregureo, Michael D Schneider, Enrique Lara-Pezzi, Nadia Rosenthal. Intravenous delivery of adeno-associated virus 9-encoded IGF-1Ea propeptide improves post-infarct cardiac remodelling. npj Regenerative Medicine 2016; 1(1) doi: 10.1038/npjregenmed.2016.1
|
| 2 |
Ke Xu, Yue Xie, Tengyang Sun, Xiaohui Zhang, Chunjie Chen, Yang Li. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. British Journal of Ophthalmology 2020; 104(7): 932 doi: 10.1136/bjophthalmol-2019-314281
|
| 3 |
Anita Maasz, Kinga Hadzsiev, Reka Ripszam, Anna Zsigmond, Erika Maka, Krisztina Knezy, Balazs Lesch, Adrienn Nemeth, Judit Bene, Bence Galik, Attila Gyenesei, Bela Melegh. TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness. European Journal of Medical Genetics 2022; 65(4): 104471 doi: 10.1016/j.ejmg.2022.104471
|
| 4 |
Rahel Zulliger, Shannon M. Conley, Muna I. Naash. Non-viral therapeutic approaches to ocular diseases: An overview and future directions. Journal of Controlled Release 2015; 219: 471 doi: 10.1016/j.jconrel.2015.10.007
|
| 5 |
Brenda de Oliveira da Silva. Principais achados em um paciente com diagnóstico de Amaurose Congênita de Leber. Revista Brasileira de Oftalmologia 2023; 82 doi: 10.37039/1982.8551.20230010
|
| 6 |
Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi. Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. European Journal of Human Genetics 2017; 25(5): 651 doi: 10.1038/ejhg.2017.23
|
| 7 |
Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes 2017; 8(10): 280 doi: 10.3390/genes8100280
|
| 8 |
Mohamed A. Faynus, Dennis O. Clegg. Current Progress in iPSC Disease Modeling. 2022; : 157 doi: 10.1016/B978-0-323-85765-9.00005-9
|
| 9 |
Eszter Vizvári, Lilla Smeller, Ágnes Jánossy, Máté Lőrincz, Márta Janáky, Edit Tóth-Molnár. Szemészeti javallat alapján végzett génterápiás kezelés RPE65 biallelikus génmutáció okozta öröklődő ideghártya-dystrophiában.. Orvosi Hetilap 2022; 163(48): 1923 doi: 10.1556/650.2022.32636
|
| 10 |
Tonya M. Schmitt, Mary Jean Ohns, Jennifer J. DeVries. Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children. The Journal for Nurse Practitioners 2023; 19(5): 104560 doi: 10.1016/j.nurpra.2023.104560
|
| 11 |
Arun K. Krishnan, Samuel G. Jacobson, Alejandro J. Roman, Bhavya S. Iyer, Alexandra V. Garafalo, Elise Héon, Artur V. Cideciyan. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function. Vision Research 2020; 168: 53 doi: 10.1016/j.visres.2020.01.006
|
| 12 |
Eun Hye Oh, Jae-Hwan Choi. Infantile nystagmus syndrome: Promise and pitfalls of genetic testing. Journal of Genetic Medicine 2024; 21(1): 14 doi: 10.5734/JGM.2024.21.1.14
|
| 13 |
Hung-Da Chou, An-Lun Wu, Yu-Chun Cheng, Nan-Kai Wang. Hereditary Chorioretinal Disorders. Retina Atlas 2020; : 1 doi: 10.1007/978-981-15-0414-3_1
|
| 14 |
Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides. Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. British Journal of Ophthalmology 2022; 106(4): 445 doi: 10.1136/bjophthalmol-2020-318483
|
| 15 |
Arshad M. Khanani, Mathew J. Thomas, Aamir A. Aziz, Christina Y. Weng, Carl J. Danzig, Glenn Yiu, Szilárd Kiss, Nadia K. Waheed, Peter K. Kaiser. Review of gene therapies for age-related macular degeneration. Eye 2022; 36(2): 303 doi: 10.1038/s41433-021-01842-1
|
| 16 |
Najam A. Sharif, Nozhat Choudry, Saima D. Chaudhry, Abu Abraham. Advances in Vision Research, Volume IV. Essentials in Ophthalmology 2024; : 225 doi: 10.1007/978-981-99-4436-1_15
|
| 17 |
Seo-Hee Cho, Ji Yun Song, Jinyeon Shin, Seonhee Kim. Neonatal disease environment limits the efficacy of retinal transplantation in the LCA8 mouse model. BMC Ophthalmology 2016; 16(1) doi: 10.1186/s12886-016-0368-0
|
| 18 |
Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Oumeya Adjali, Sébastien Schmitt, Stéphane Bézieau, Yann Péréon, Romain Valabregue, Catherine Ivan, Christophe Darmon, Philippe Moullier, Fabienne Rolling, Michel Weber. Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. Molecular Therapy 2018; 26(1): 256 doi: 10.1016/j.ymthe.2017.09.014
|
| 19 |
Wei Chiu, Ting-Yi Lin, Yun-Chia Chang, Henkie Isahwan-Ahmad Mulyadi Lai, Shen-Che Lin, Chun Ma, Aliaksandr A. Yarmishyn, Shiuan-Chen Lin, Kao-Jung Chang, Yu-Bai Chou, Chih-Chien Hsu, Tai-Chi Lin, Shih-Jen Chen, Yueh Chien, Yi-Ping Yang, De-Kuang Hwang. An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials. International Journal of Molecular Sciences 2021; 22(9): 4534 doi: 10.3390/ijms22094534
|
| 20 |
Patrick Vancura, Erika Csicsely, Annalisa Leiser, P. Michael Iuvone, Rainer Spessert. Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal Diseases. Investigative Opthalmology & Visual Science 2018; 59(10): 3789 doi: 10.1167/iovs.18-24558
|
| 21 |
Oscar F. Chacón-Camacho, Leopoldo A. García-Montaño, Juan C Zenteno. The clinical implications of molecular monitoring and analyses of inherited retinal diseases. Expert Review of Molecular Diagnostics 2017; 17(11): 1009 doi: 10.1080/14737159.2017.1384314
|
| 22 |
Budd A. Tucker, Cathryn M. Cranston, Kristin A. Anfinson, Suruchi Shrestha, Luan M. Streb, Alejandro Leon, Robert F. Mullins, Edwin M. Stone. Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial. Translational Research 2015; 166(6): 740 doi: 10.1016/j.trsl.2015.08.007
|
| 23 |
Sundaramoorthy Srinivasan, Ramon Guixà-González, Arnau Cordomí, Pere Garriga. Ligand Binding Mechanisms in Human Cone Visual Pigments. Trends in Biochemical Sciences 2019; 44(7): 629 doi: 10.1016/j.tibs.2019.02.001
|
| 24 |
Seo-Hee Cho, Ankur Nahar, Ji Hyang Kim, Matthew Lee, Zbynek Kozmik, Seonhee Kim. Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8. Developmental Biology 2019; 453(2): 141 doi: 10.1016/j.ydbio.2019.05.008
|
| 25 |
Charmaine A. Ramlogan‐Steel, Aparna Murali, Slawomir Andrzejewski, Bijay Dhungel, Jason C. Steel, Christopher J. Layton. Gene therapy and the adeno‐associated virus in the treatment of genetic and acquired ophthalmic diseases in humans: Trials, future directions and safety considerations. Clinical & Experimental Ophthalmology 2019; 47(4): 521 doi: 10.1111/ceo.13416
|
| 26 |
Nitya T. Rao, Alexander Sumaroka, Arlene J. Santos, Kelsey M. Parchinski, Mariejel L. Weber, Albert M. Maguire, Artur V. Cideciyan, Tomas S. Aleman.
Detailed phenotype and long-term follow-up of
RAB28-
associated cone-rod dystrophy
. Ophthalmic Genetics 2024; 45(5): 506 doi: 10.1080/13816810.2024.2362204
|
| 27 |
Pam A. T. Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, Hester Y. Kroes, Mary J. van Schooneveld, Camiel J. F. Boon, Maria M. van Genderen, Astrid S. Plomp, Yvonne de Jong-Hesse, Michelle B. van Egmond-Ebbeling, Lies H. Hoefsloot, Arthur A. Bergen, Caroline C. W. Klaver, Magda A. Meester-Smoor, Alberta A. H. J. Thiadens, Virginie J. M. Verhoeven. Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. Investigative Ophthalmology & Visual Science 2024; 65(10): 40 doi: 10.1167/iovs.65.10.40
|
| 28 |
Kim de Verdier, Ek Ulla, Stefan Löfgren, Elisabeth Fernell. Children with blindness – major causes, developmental outcomes and implications for habilitation and educational support: a two‐decade, Swedish population‐based study. Acta Ophthalmologica 2018; 96(3): 295 doi: 10.1111/aos.13631
|
| 29 |
Yun Li, Qing Pan, Yang-shun Gu. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. Journal of Zhejiang University-SCIENCE B 2017; 18(5): 421 doi: 10.1631/jzus.B1600156
|
| 30 |
Sonal Dalvi, Chad A. Galloway, Ruchira Singh. Pluripotent Stem Cells in Eye Disease Therapy. Advances in Experimental Medicine and Biology 2019; 1186: 1 doi: 10.1007/978-3-030-28471-8_1
|
| 31 |
Lucy H. Maynard, Olivier Humbert, Christopher W. Peterson, Hans-Peter Kiem. Genome editing in large animal models. Molecular Therapy 2021; 29(11): 3140 doi: 10.1016/j.ymthe.2021.09.026
|
| 32 |
Chandrasekar SatyaPriya, Sundaramoorthy Srilekha, Karthikeyan Sudha, Sarangapani Sripriya, Nagasamy Soumittra. Advances in Vision Research, Volume I. Essentials in Ophthalmology 2017; : 449 doi: 10.1007/978-4-431-56511-6_32
|
| 33 |
N.N. Srikrupa, S. Srilekha, P. Sen, T. Arokiasamy, S. Meenakshi, M. Bhende, S. Kapur, N. Soumittra. Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing. Clinical Genetics 2018; 93(2): 329 doi: 10.1111/cge.13159
|
| 34 |
Sascha Werner, Pilar Okenve-Ramos, Philip Hehlert, Sihem Zitouni, Pranjali Priya, Susana Mendonça, Anje Sporbert, Christian Spalthoff, Martin C Göpfert, Swadhin Chandra Jana, Mónica Bettencourt-Dias. IFT88 maintains sensory function by localising signalling proteins alongDrosophilacilia. Life Science Alliance 2024; 7(5): e202302289 doi: 10.26508/lsa.202302289
|
| 35 |
Mays Talib, Caroline Van Cauwenbergh, Julie De Zaeytijd, David Van Wynsberghe, Elfride De Baere, Camiel J F Boon, Bart Peter Leroy. CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. British Journal of Ophthalmology 2022; 106(5): 696 doi: 10.1136/bjophthalmol-2020-316781
|
| 36 |
Bohdan Kousal, Lubica Dudakova, Renata Gaillyova, Michaela Hejtmankova, Pavel Diblik, Michel Michaelides, Petra Liskova. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Graefe's Archive for Clinical and Experimental Ophthalmology 2016; 254(9): 1833 doi: 10.1007/s00417-016-3358-2
|
| 37 |
Dan Meng, Junmin Pan. Chlamydomonas: Biotechnology and Biomedicine. Microbiology Monographs 2017; 31: 73 doi: 10.1007/978-3-319-66360-9_4
|
| 38 |
Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye, Karl-Wilhelm Koch. The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS. PLOS ONE 2020; 15(4): e0231115 doi: 10.1371/journal.pone.0231115
|
| 39 |
Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl. Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report. Egyptian Journal of Medical Human Genetics 2022; 23(1) doi: 10.1186/s43042-022-00217-9
|
| 40 |
Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi, Mehrdad Noruzinia. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. European Journal of Medical Genetics 2020; 63(3): 103750 doi: 10.1016/j.ejmg.2019.103750
|
| 41 |
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H. Hyman, Talia Eldar-Geva, Anat Blumenfeld. Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. Ophthalmic Genetics 2018; 39(4): 450 doi: 10.1080/13816810.2018.1474368
|
| 42 |
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach. Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10). SSRN Electronic Journal 2020; doi: 10.2139/ssrn.3745122
|
| 43 |
Serena Riccitelli, Mattia Di Paolo, James Ashley, Silvia Bisti, Stefano Di Marco. The Timecourses of Functional, Morphological, and Molecular Changes Triggered by Light Exposure in Sprague–Dawley Rat Retinas. Cells 2021; 10(6): 1561 doi: 10.3390/cells10061561
|
| 44 |
Francesco Testa, Andrea Sodi, Sabrina Signorini, Valentina Di Iorio, Vittoria Murro, Raffaella Brunetti-Pierri, Enza Maria Valente, Marianthi Karali, Paolo Melillo, Sandro Banfi, Francesca Simonelli. Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study. Investigative Opthalmology & Visual Science 2021; 62(9): 1 doi: 10.1167/iovs.62.9.1
|
| 45 |
Altaf A. Kondkar, Khaled K. Abu-Amero. Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. Experimental Eye Research 2019; 189: 107834 doi: 10.1016/j.exer.2019.107834
|
| 46 |
Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun. Review of Ocular Manifestations of Joubert Syndrome. Genes 2018; 9(12): 605 doi: 10.3390/genes9120605
|
| 47 |
Evren Gumus, Armagan Ozgur. A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Fetal and Pediatric Pathology 2020; 39(3): 251 doi: 10.1080/15513815.2019.1644687
|
| 48 |
Nicole C. L. Noel, Ian M. MacDonald, W. Ted Allison. Zebrafish Models of Photoreceptor Dysfunction and Degeneration. Biomolecules 2021; 11(1): 78 doi: 10.3390/biom11010078
|
| 49 |
Chu-Hsuan Huang, Chung-May Yang, Chang-Hao Yang, Yu-Chih Hou, Ta-Ching Chen. Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes 2021; 12(8): 1261 doi: 10.3390/genes12081261
|
| 50 |
Aamir A. Aziz, Hannah Khan, Zoha A. Khanani, Mathew J. Thomas, Huma Khan, Abrahim Ahmed, Greggory M. Gahn, Arshad M. Khanani. Review of Gene Therapy Clinical Trials for Retinal Diseases. International Ophthalmology Clinics 2024; 64(1): 141 doi: 10.1097/IIO.0000000000000517
|
| 51 |
Morgan L Maeder, Charles A Gersbach. Genome-editing Technologies for Gene and Cell Therapy. Molecular Therapy 2016; 24(3): 430 doi: 10.1038/mt.2016.10
|
| 52 |
Vladimir Khristov, Balendu Shekhar Jha, Aaron Rising, Yichao Li, Haohua Qian, Arvydas Maminishkis, Juan Amaral, Maria Campos, Kapil Bharti. Cellular Therapies for Retinal Disease. 2017; : 33 doi: 10.1007/978-3-319-49479-1_3
|
| 53 |
Elliot H Choi, Susie Suh, Christopher L Sander, Christian J Ortiz Hernandez, Elizabeth R Bulman, Nimesh Khadka, Zhiqian Dong, Wuxian Shi, Krzysztof Palczewski, Philip D Kiser. Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. Human Molecular Genetics 2018; 27(13): 2225 doi: 10.1093/hmg/ddy128
|
| 54 |
Cristina Villanueva-Mendoza, Miquel Tuson, David Apam-Garduño, Marta de Castro-Miró, Raul Tonda, Jean Remi Trotta, Gemma Marfany, Rebeca Valero, Vianney Cortés-González, Roser Gonzàlez-Duarte. The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes. Genes 2021; 12(11): 1824 doi: 10.3390/genes12111824
|
| 55 |
Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shamieh. Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. BMC Ophthalmology 2024; 24(1) doi: 10.1186/s12886-024-03419-4
|
| 56 |
Luyao Zhu, Wangbin Ouyang, Minfang Zhang, Hao Wang, Shiying Li, Xiaohong Meng, Zheng Qin Yin. Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. Ophthalmic Genetics 2021; 42(4): 392 doi: 10.1080/13816810.2021.1904417
|
| 57 |
Yinuo Wu, Biao Ma, Chang Liu, Dangdang Li, Guangchao Sui. Pathological Involvement of Protein Phase Separation and Aggregation in Neurodegenerative Diseases. International Journal of Molecular Sciences 2024; 25(18): 10187 doi: 10.3390/ijms251810187
|
| 58 |
Younghwa Shin, Gennadiy Moiseyev, Dibyendu Chakraborty, Jian-xing Ma. A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice. The American Journal of Pathology 2017; 187(3): 517 doi: 10.1016/j.ajpath.2016.11.004
|
| 59 |
Saber Imani, Jingliang Cheng, Abdolkarim Mobasher‐Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab‐Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. Journal of Cellular and Molecular Medicine 2018; 22(3): 1733 doi: 10.1111/jcmm.13454
|
| 60 |
Christine L. Xu, Galaxy Y. Cho, Jesse D. Sengillo, Karen S. Park, Vinit B. Mahajan, Stephen H. Tsang. Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases. Frontiers in Cell and Developmental Biology 2018; 6 doi: 10.3389/fcell.2018.00046
|
| 61 |
Jie Shi, Ke Xu, Jian-Ping Hu, Yue Xie, Xin Zhang, Xiao-Hui Zhang, Zi-Bing Jin, Yang Li. Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy. Journal of Clinical Medicine 2021; 10(22): 5229 doi: 10.3390/jcm10225229
|
| 62 |
Thomas C. Hohman. Pharmacologic Therapy of Ocular Disease. Handbook of Experimental Pharmacology 2016; 242: 337 doi: 10.1007/164_2016_91
|
| 63 |
Marianthi Karali, Francesco Testa, Raffaella Brunetti-Pierri, Valentina Di Iorio, Mariateresa Pizzo, Paolo Melillo, Maria Rosaria Barillari, Annalaura Torella, Francesco Musacchia, Luigi D’Angelo, Sandro Banfi, Francesca Simonelli. Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa. International Journal of Molecular Sciences 2019; 21(1): 86 doi: 10.3390/ijms21010086
|
| 64 |
Jesus Lima Barrientos, Anahi Rojas Huerta, Angel Perez Mendoza, Barbara A Abreu Lopez, Vanessa Pamela Salolin Vargas, Oxiris Yexalen Garcia Gonzalez, Mauricio A Saldaña Ruiz, Edna Diarte, Angela Juliet Torijano Sarria. The Relationship Between Gut Microbiome and Ophthalmologic Diseases: A Comprehensive Review. Cureus 2024; doi: 10.7759/cureus.66808
|
| 65 |
Gaia Pasqualetto, Elisa Pileggi, Martin Schepelmann, Carmine Varricchio, Malgorzata Rozanowska, Andrea Brancale, Marcella Bassetto. Ligand-based rational design, synthesis and evaluation of novel potential chemical chaperones for opsin. European Journal of Medicinal Chemistry 2021; 226: 113841 doi: 10.1016/j.ejmech.2021.113841
|
| 66 |
Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, Fernanda Belga Ottoni Porto, Rosane Guazi Resende, Rubens Belfort. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2020; 184(3): 728 doi: 10.1002/ajmg.c.31828
|
| 67 |
Asad Munir, Salma Afsar, Atta Ur Rehman. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. BMC Ophthalmology 2024; 24(1) doi: 10.1186/s12886-024-03319-7
|
| 68 |
Jesse D. Sengillo, Sally Justus, Yi‐Ting Tsai, Thiago Cabral, Stephen H. Tsang. Gene and cell‐based therapies for inherited retinal disorders: An update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2016; 172(4): 349 doi: 10.1002/ajmg.c.31534
|
| 69 |
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan. Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. Eye and Vision 2021; 8(1) doi: 10.1186/s40662-021-00243-5
|
| 70 |
Ágnes Jánossy, Eszter Vizvári, Máté Lőrincz, Szilvia Pál, Dóra Nagy, György Benedek, Edit Tóth-Molnár, Márta Janáky. Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation. Case Reports in Ophthalmology 2023; : 454 doi: 10.1159/000530086
|
| 71 |
Urikhan Sanzhaeva, Helen Boyd-Pratt, Philip T. R. Bender, Thamaraiselvi Saravanan, Scott B. Rhodes, Tongju Guan, Neil Billington, Shannon E. Boye, Christopher L. Cunningham, Charles T. Anderson, Visvanathan Ramamurthy. TUBB4B is essential for the cytoskeletal architecture of cochlear supporting cells and motile cilia development. Communications Biology 2024; 7(1) doi: 10.1038/s42003-024-06867-2
|
| 72 |
Yunyu Zhou, Lijuan Huang, Yan Xie, Wen Liu, Shasha Zhang, Lili Liu, Ping Lin, Ningdong Li. Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis. Graefe's Archive for Clinical and Experimental Ophthalmology 2024; 262(9): 3029 doi: 10.1007/s00417-024-06450-9
|
| 73 |
Jie Shi, Ke Xu, Xin Zhang, Yue Xie, Haoyu Chang, Yang Li. A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. Frontiers in Genetics 2023; 13 doi: 10.3389/fgene.2022.1104420
|
| 74 |
Fernanda Porto, Evan Jones, Justin Branch, Zachry Soens, Igor Maia, Isadora Sena, Shirley Sampaio, Renata Simões, Rui Chen. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes 2017; 8(12): 355 doi: 10.3390/genes8120355
|
| 75 |
Aanchal Gupta, Konstantinos N. Kafetzis, Aristides D. Tagalakis, Cynthia Yu-Wai-Man. RNA therapeutics in ophthalmology - translation to clinical trials. Experimental Eye Research 2021; 205: 108482 doi: 10.1016/j.exer.2021.108482
|
| 76 |
Xue Du, Anna G. Butler, Holly Y. Chen. Cell-cell interaction in the pathogenesis of inherited retinal diseases. Frontiers in Cell and Developmental Biology 2024; 12 doi: 10.3389/fcell.2024.1332944
|
| 77 |
Hiroshi Kuribayashi, Yukihiro Baba, Toshiro Iwagawa, Eisuke Arai, Akira Murakami, Sumiko Watanabe. Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation. Cell Death & Disease 2018; 9(9) doi: 10.1038/s41419-018-0907-0
|
| 78 |
Jonathan P. Giblin, Nuria Comes, Olaf Strauss, Xavier Gasull. Ion channels as therapeutic targets, part B. Advances in Protein Chemistry and Structural Biology 2016; 104: 157 doi: 10.1016/bs.apcsb.2015.11.006
|
| 79 |
Brijesh Takkar, Pooja Bansal, Pradeep Venkatesh. Leber’s Congenital Amaurosis and Gene Therapy. The Indian Journal of Pediatrics 2018; 85(3): 237 doi: 10.1007/s12098-017-2394-1
|
| 80 |
Joshua Schimmer, Steven Breazzano. Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results. Human Gene Therapy Clinical Development 2015; 26(3): 144 doi: 10.1089/humc.2015.29001.sch
|
| 81 |
Jingna He, Wai Kit Chu, Li Ma, Calvin C. P. Pang, Guy L. J. Chen. Advances in Vision Research, Volume II. Essentials in Ophthalmology 2019; : 177 doi: 10.1007/978-981-13-0884-0_17
|
| 82 |
Srilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, Tharigopala Arokiasamy, Swati Deshpande, Neetha John, Rupali A Gadkari, Ashraf U Mannan, Nagasamy Soumittra. Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases. Journal of Human Genetics 2016; 61(11): 951 doi: 10.1038/jhg.2016.83
|
| 83 |
Arumugom Archana, Tamil Selvan, Venkatraman R. Kumar, K Abinaya, Nirupama Kasturi. A Rare Case of Neuromuscular Oculoauditory Syndrome. Annals of Indian Academy of Neurology 2022; 25(4): 780 doi: 10.4103/aian.aian_67_22
|
| 84 |
Najam A. Sharif. Gene therapies and gene product-based drug candidates for normalizing and preserving tissue functions in animal models of ocular hypertension and glaucoma. Molecular Aspects of Medicine 2023; 94: 101218 doi: 10.1016/j.mam.2023.101218
|
| 85 |
Tomas S. Aleman, Katherine E. Uyhazi, Leona W. Serrano, Vidyullatha Vasireddy, Scott J. Bowman, Michael J. Ammar, Denise J. Pearson, Albert M. Maguire, Jean Bennett. RDH12Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function. Investigative Opthalmology & Visual Science 2018; 59(12): 5225 doi: 10.1167/iovs.18-24708
|
| 86 |
Shiyuan Wang, Qi Zhang, Xiang Zhang, Zhaoyang Wang, Peiquan Zhao. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. Graefe's Archive for Clinical and Experimental Ophthalmology 2016; 254(11): 2227 doi: 10.1007/s00417-016-3428-5
|
| 87 |
Satu Kujawski, Mahendra Sonawane, Elisabeth Knust. penner/lgl2is required for the integrity of the photoreceptor layer in the zebrafish retina. Biology Open 2019; 8(4) doi: 10.1242/bio.041830
|
| 88 |
David A. Parfitt, Amelia Lane, Conor M. Ramsden, Amanda-Jayne F. Carr, Peter M. Munro, Katarina Jovanovic, Nele Schwarz, Naheed Kanuga, Manickam N. Muthiah, Sarah Hull, Jean-Marc Gallo, Lyndon da Cruz, Anthony T. Moore, Alison J. Hardcastle, Peter J. Coffey, Michael E. Cheetham. Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell 2016; 18(6): 769 doi: 10.1016/j.stem.2016.03.021
|
| 89 |
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. Nature Medicine 2022; 28(5): 1014 doi: 10.1038/s41591-022-01755-w
|
| 90 |
Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige. Ocular manifestations of renal ciliopathies. Pediatric Nephrology 2024; 39(5): 1327 doi: 10.1007/s00467-023-06096-5
|
| 91 |
Goran Kosec, Christiane Kafarnik, Ghislaine Sayers, Emma Jane Scurrell, Wallace James Carter. Outer retinal degeneration in two closely related Goeldi's monkeys (Callimico goeldii). Veterinary Ophthalmology 2020; 23(2): 394 doi: 10.1111/vop.12721
|
| 92 |
Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson. Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis. BMC Ophthalmology 2022; 22(1) doi: 10.1186/s12886-022-02475-y
|
| 93 |
Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Jason Charng, Monica Lu, Shreyasi Choudhury, Sharon B. Schwartz, Elise Heon, Gerald A. Fishman, Shannon E. Boye. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. American Journal of Ophthalmology 2017; 177: 44 doi: 10.1016/j.ajo.2017.02.003
|
| 94 |
Mayur Choudhary, Goldis Malek. The Aryl Hydrocarbon Receptor: A Mediator and Potential Therapeutic Target for Ocular and Non-Ocular Neurodegenerative Diseases. International Journal of Molecular Sciences 2020; 21(18): 6777 doi: 10.3390/ijms21186777
|