Works matching DE "LEBER'S congenital amaurosis"

Results: 43

Available Evidence on Leber Congenital Amaurosis and Gene Therapy.

Published in:

2017

By:

Alkharashi, Maan;
Fulton, Anne B.

Publication type:

journal article

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort.

Published in:

Journal of Ophthalmology, 2021, p. 1, doi. 10.1155/2021/9966427

By:

Mao, Yumei;
Long, Yanling;
Liu, Bo;
Cao, Qingling;
Li, Yijian;
Li, Sha;
Wang, Gang;
Meng, Xiaohong;
Li, Shiying

Publication type:

Article

Behind the Lab Door.

Published in:: Ocular Surgery News, 2012, v. 30, n. 12, p. 10
Publication type:: Article

Industry Pipeline.

Published in:: Ocular Surgery News, 2011, v. 29, n. 24, p. 22
Publication type:: Article

Leber's Hereditary Optic Neuropathy-Not Just a Young Men's Disease.

Published in:

2016

By:

Malouf, Marc A.;
Levin, Moran;
Mathews, Michaela K.

Publication type:

Letter to the Editor

Perioperative management of patients with genetic multisystem diseases associated with pre-excitation.

Published in:

Anaesthesiology Intensive Therapy / Anestezjologia, Intensywna Terapia, 2019, v. 51, n. 2, p. 133, doi. 10.5114/ait.2019.86278

By:

Staikou, Chryssoula;
Stamelos, Mattheos;
Stavroulakis, Eftyhios

Publication type:

Article

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.

Published in:

Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00044

By:

Molday, Laurie L.;
Jefferies, Thomas;
Molday, Robert S.

Publication type:

Article

Insights gained from gene therapy in animal models of retGC1 deficiency.

Published in:

Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00043

By:

Boye, Shannon E.

Publication type:

Article

Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

Published in:

BMC Ophthalmology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12886-015-0085-0

By:

Roman, Alejandro J.;
Cideciyan, Artur V.;
Matsui, Rodrigo;
Sheplock, Rebecca;
Schwartz, Sharon B.;
Jacobson, Samuel G.

Publication type:

Article

Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.

Published in:

BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2595-4

By:

Lyons, Leslie A.;
Creighton, Erica K.;
Alhaddad, Hasan;
Beale, Holly C.;
Grahn, Robert A.;
HyungChul Rah;
Maggs, David J.;
Helps, Christopher R.;
Gandolfi, Barbara

Publication type:

Article

Therapeutic Options in Hereditary Optic Neuropathies.

Published in:

Drugs, 2021, v. 81, n. 1, p. 57, doi. 10.1007/s40265-020-01428-3

By:

Amore, Giulia;
Romagnoli, Martina;
Carbonelli, Michele;
Barboni, Piero;
Carelli, Valerio;
La Morgia, Chiara

Publication type:

Article

Idebenone: A Review in Leber's Hereditary Optic Neuropathy.

Published in:

Drugs, 2016, v. 76, n. 7, p. 805, doi. 10.1007/s40265-016-0574-3

By:

Lyseng-Williamson, Katherine

Publication type:

Article

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.

Published in:

Journal of Genetics, 2014, v. 93, n. 2, p. 527, doi. 10.1007/s12041-014-0394-8

By:

KHAN, MUZAMMIL;
RUPP, VERENA;
KHAN, MUHAMMAD;
ANSAR, MUHAMMAD;
WINDPASSINGER, CHRISTIAN

Publication type:

Article

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

Published in:

2016

By:

de la Barca, Juan Manuel Chao;
Simard, Gilles;
Amati-Bonneau, Patrizia;
Safiedeen, Zainab;
Prunier-Mirebeau, Delphine;
Chupin, Stéphanie;
Gadras, Cédric;
Tessier, Lydie;
Gueguen, Naïg;
Chevrollier, Arnaud;
Desquiret-Dumas, Valérie;
Ferré, Marc;
Bris, Céline;
Nzoughet, Judith Kouassi;
Bocca, Cinzia;
Leruez, Stéphanie;
Verny, Christophe;
Miléa, Dan;
Bonneau, Dominique;
Lenaers, Guy

Publication type:

journal article

Gene Therapy Using Neuroprotective Factors in Glaucoma.

Published in:

Journal of Nippon Medical School, 2014, v. 81, n. 1, p. 59, doi. 10.1272/jnms.81.59

By:

Tsutomu Igarashi

Publication type:

Article

Curing blindness: Vision quest.

Published in:

Nature, 2014, v. 513, n. 7517, p. 160, doi. 10.1038/513160a

By:

Lok, Corie

Publication type:

Article

One good match permits another—why HLA-matched blood transfusion makes sense.

Published in:

2013

By:

Reynolds, Ben C.;
Johnson, Sally A.;
Carter, Vaughan;
Wallis, Jonathan P.;
Moghal, Nadeem E.

Publication type:

Case Study

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. 1, doi. 10.1186/s13052-019-0760-5

By:

Suppiej, Agnese;
Marino, Silvia;
Reffo, Maria Eleonora;
Maritan, Veronica;
Vitaliti, Giovanna;
Mailo, Janette;
Falsaperla, Raffaele

Publication type:

Article

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

Published in:

Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z

By:

Kuniyoshi, Kazuki;
Sakuramoto, Hiroyuki;
Yoshitake, Kazutoshi;
Abe, Kosuke;
Ikeo, Kazuho;
Furuno, Masaaki;
Tsunoda, Kazushige;
Kusaka, Shunji;
Shimomura, Yoshikazu;
Iwata, Takeshi

Publication type:

Article

Plasticity of the human visual system after retinal gene therapy in patients with Leber’s congenital amaurosis.

Published in:

Science Translational Medicine, 2015, v. 7, n. 296, p. 1, doi. 10.1126/scitranslmed.aaa8791

By:

Ashtari, Manzar;
Hui Zhang;
Cook, Philip A.;
Cyckowski, Laura L.;
Shindler, Kenneth S.;
Marshall, Kathleen A.;
Aravand, Puya;
Vossough, Arastoo;
Gee, James C.;
Maguire, Albert M.;
Baker, Chris I.;
Bennett, Jean

Publication type:

Article

FDA-approved drug shows promise in lab models for blinding childhood disease.

Published in:

Neonatology Today, 2023, v. 18, n. 4, p. 163

By:

Saleem, Saba

Publication type:

Article

FDA grants rare pediatric disease designation for Leber congenital amaurosis gene therapy.

Published in:

Ocular Surgery News, 2024, v. 42, n. 18, p. 34

By:

Young, Alex

Publication type:

Article

INDUSTRY PIPELINE.

Published in:: Ocular Surgery News, 2024, v. 42, n. 8, p. 24
Publication type:: Article

Positive early safety, efficacy data reported for Leber congenital amaurosis gene therapy.

Published in:: Ocular Surgery News, 2024, v. 42, n. 2, p. 40
Publication type:: Article

Safety profile for sepofarsen for Leber congenital amaurosis 'manageable'.

Published in:: Ocular Surgery News, 2021, v. 39, n. 1, p. 8
Publication type:: Article

Bilateral VA gains achieved with LHON gene therapy.

Published in:

Ocular Surgery News, 2019, v. 37, n. 22, p. 13

By:

Linnehan, Robert

Publication type:

Article

Genetic therapies offer new pathways for ophthalmic disorders.

Published in:

Ocular Surgery News, 2017, v. 35, n. 20, p. 17

By:

Linnehan, Robert

Publication type:

Article

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 3, p. 753, doi. 10.3390/ijms19030753

By:

Duijkers, Lonneke;
van den Born, L. Ingeborgh;
Neidhardt, John;
Bax, Nathalie M.;
Pierrache, Laurence H. M.;
Klevering, B. Jeroen;
Collin, Rob W. J.;
Garanto, Alejandro

Publication type:

Article

Senior-Loken Syndrome with Rare Manifestations: A Case Report.

Published in:

Eurasian Journal of Medicine, 2013, v. 45, n. 2, p. 128, doi. 10.5152/eajm.2013.25

By:

Aggarwal, Harikrishan K.;
Jain, Deepak;
Yadav, Sachin;
Kaverappa, Vipin;
Gupta, Abhishek

Publication type:

Article

Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0064-8

By:

Miyamichi, Daisuke;
Nishina, Sachiko;
Hosono, Katsuhiro;
Yokoi, Tadashi;
Kurata, Kentaro;
Sato, Miho;
Hotta, Yoshihiro;
Azuma, Noriyuki

Publication type:

Article

Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates.

Published in:

Gene Therapy, 2015, v. 22, n. 2, p. 116, doi. 10.1038/gt.2014.115

By:

Kotterman, M A;
Yin, L;
Strazzeri, J M;
Flannery, J G;
Merigan, W H;
Schaffer, D V

Publication type:

Article

Ocular gene therapy: introduction to the special issue.

Published in:

Gene Therapy, 2012, v. 19, n. 2, p. 119, doi. 10.1038/gt.2011.189

By:

Ali, R R

Publication type:

Article

Gene supplementation therapy for recessive forms of inherited retinal dystrophies.

Published in:

Gene Therapy, 2012, v. 19, n. 2, p. 154, doi. 10.1038/gt.2011.161

By:

Smith, A J;
Bainbridge, J W B;
Ali, R R

Publication type:

Article

Leber Hereditary Optic Neuropathy.

Published in:: Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 24
Publication type:: Article

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 34, doi. 10.4274/jcrpe.galenos.2024.2024-1-11

By:

Papatya Çakır, Esra Deniz;
Ersoy, Melike;
Biçer, Nihan Çakır;
Gedikbaşı, Asuman

Publication type:

Article

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 329, doi. 10.1111/cge.13159

By:

Srikrupa, N. N.;
Srilekha, S.;
Sen, P.;
Arokiasamy, T.;
Meenakshi, S.;
Bhende, M.;
Kapur, S.;
Soumittra, N.

Publication type:

Article

Clinical features and mutation of NPHP5 in two Chinese siblings with Senior- Løken syndrome.

Published in:

Nephrology, 2013, v. 18, n. 12, p. 838, doi. 10.1111/nep.12156

By:

Tong, Huajuan;
Yue, Zhihui;
Sun, Liangzhong;
Chen, Huiqin;
Wang, Weiguang;
Wang, Haiyan

Publication type:

Article

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis.

Published in:

Journal of Ophthalmic & Vision Research, 2023, v. 18, n. 1, p. 60, doi. 10.18502/jovr.v18i1.12726

By:

Berger, Silke;
Currie, Peter D.;
Berger, Joachim

Publication type:

Article

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings.

Published in:

Journal of Ophthalmic & Vision Research, 2019, v. 14, n. 4, p. 518, doi. 10.18502/jovr.v14i4.5467

By:

Khan, Shaheryar Ahmed;
Nestel, Achim Richard

Publication type:

Article

Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 11, p. 2227, doi. 10.1007/s00417-016-3428-5

By:

Wang, Shiyuan;
Zhang, Qi;
Zhang, Xiang;
Wang, Zhaoyang;
Zhao, Peiquan

Publication type:

Article

Oculodigital Sign: A Clinical Clue for Diagnosis.

Published in:

2022

By:

Yoganathan, Sangeetha;
Kumar, Madhan;
John, Deepa;
Danda, Sumita;
Oommen, Samuel P.;
Umakant, Sayli B.;
Thomas, Maya

Publication type:

Letter to the Editor

Leber's hereditary optic neuropathy: Report of a simple case associated with a rare variant mutation.

Published in:

2017

By:

Malhotra, Ravinder Mohan;
Abualela, Hanadi Mahmoud;
Eltemamy, Marwa Ahmed;
Al Mejally, Mousa Ali

Publication type:

Case Study

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 2, p. 631, doi. 10.1172/JCI72722

By:

Roger, Jerome E.;
Hiriyanna, Avinash;
Norimoto Gotoh;
Hong Hao;
Cheng, Debbie F.;
Ratnapriya, Rinki;
Kautzmann, Marie-Audrey I.;
Bo Chang;
Swaroop, Anand

Publication type:

Article