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Tomas Aleman

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Tomas S Aleman; Paul J Tapino; Alexander J Brucker
Evidence of recurrent microvascular occlusions associated with acute branch retinal artery occlusion demonstrated with spectral-domain optical coherence tomography.
Astra Dinculescu; Jackie Estreicher; William W Hauswirth; Wei Chieh Huang; Tomas S Aleman; Sanford L Boye; Beatriz Buentello-Volante; Vince A Chiodo; Artur Vahe Cideciyan; Wen-Tao Deng; Qiuhong Li; Xuan Liu; Margarita Matias-Florentino; Seok-Hong Min; Andy Neeley; Alejandro J Roman; Sharon B Schwartz; Xinhua Shu; Alexander Sumaroka; Juan C Zenteno; Samuel G Jacobson
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.
Artur Vahe Cideciyan; Willam J Feuer; Tomas S Aleman; Robert C Russell; Sharon B Schwartz; Janet D Steinberg; Edwin M Stone; Malgorzata Swider; Samuel G Jacobson
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.

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2012: Tomas S Aleman; Paul J Tapino; Alexander J Brucker
Evidence of recurrent microvascular occlusions associated with acute branch retinal artery occlusion demonstrated with spectral-domain optical coherence tomography.
Retina (Philadelphia, Pa.) 2012;32(8):1687-8.
2012: Astra Dinculescu; Jackie Estreicher; William W Hauswirth; Wei Chieh Huang; Tomas S Aleman; Sanford L Boye; Beatriz Buentello-Volante; Vince A Chiodo; Artur Vahe Cideciyan; Wen-Tao Deng; Qiuhong Li; Xuan Liu; Margarita Matias-Florentino; Seok-Hong Min; Andy Neeley; Alejandro J Roman; Sharon B Schwartz; Xinhua Shu; Alexander Sumaroka; Juan C Zenteno; Samuel G Jacobson
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.
Human gene therapy 2012;23(4):367-76.
2012: Artur Vahe Cideciyan; Willam J Feuer; Tomas S Aleman; Robert C Russell; Sharon B Schwartz; Janet D Steinberg; Edwin M Stone; Malgorzata Swider; Samuel G Jacobson
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
Investigative ophthalmology & visual science 2012;53(2):841-52.
2011: Tomas S Aleman; Peter Bell; Artur Vahe Cideciyan; Wei Chieh Huang; Geoffrey K Aguirre; Maria P Limberis; Cristina L Mullins; Melani B Olivares; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Alexander Sumaroka; Frank F Tsai; Luk H Vandenberghe; James M Wilson; Samuel G Jacobson
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
Investigative ophthalmology & visual science 2011;52(9):6898-910.
2011: Vanda S Lopes; Roxana A Radu; Karen P Steel; Darcy L Welch; Tomas S Aleman; Daniel Gibbs; Samuel G Jacobson; Richard T Libby; Concepción Lillo; David S Williams
The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.
Human molecular genetics 2011;20(13):2560-70.
2011: Artur V Cideciyan; Rivka A Rachel; Tomas S Aleman; Malgorzata Swider; Sharon B Schwartz; Alexander Sumaroka; Alejandro J Roman; Edwin M Stone; Samuel G Jacobson; Anand Swaroop
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Human molecular genetics 2011;20(7):1411-23.
2011: Xinhua Shu; Brian Tulloch; Heping Xu; Tomas S Aleman; Robin Ali; Susan E Barker; Mei Chen; Samuel G Jacobson; Alan Lennon; Ulrich Luhmann; Alan F Wright
Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.
PloS one 2011;6(11):e27433.
2011: Samuel G Jacobson; Margaret A Kenna; William J Kimberling; Melani B Olivares; Heidi L Rehm; Alejandro J Roman; Robert C Russell; Sharon B Schwartz; Janet D Steinberg; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Dan Gibbs; David S Williams
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Investigative ophthalmology & visual science 2011;52(11):7924-36.
2011: Edwin M Stone; Artur Vahe Cideciyan; Tomas S Aleman; Todd E Scheetz; Alexander Sumaroka; Mary A Ehlinger; Sharon B Schwartz; Gerald A Fishman; Elias I Traboulsi; Byron Lam; Anne B Fulton; robert Mullins; Val C Sheffield; Samuel G Jacobson
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Archives of ophthalmology 2011;129(1):81-7.
2011: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Alejandro J Roman; Malgorzata Swider; Sharon B Schwartz; Eyal Banin; Edwin M Stone
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Investigative ophthalmology & visual science 2011;52(1):70-9.
2010: Eyal Banin; Dikla Bandah-Rozenfeld; Alexey Obolensky; Artur V Cideciyan; Tomas S Aleman; Devora Marks-Ohana; Malka Sela; Sanford Boye; Alexander Sumaroka; Alejandro J Roman; Sharon B Schwartz; William W Hauswirth; Samuel G Jacobson; Itzhak Hemo; Dror Sharon
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.
Human gene therapy 2010;21(12):1749-57.
2010: Rafael C Caruso; Tomas S Aleman; Artur Vahe Cideciyan; Alejandro J Roman; Alexander Sumaroka; Cristina L Mullins; Sanford L Boye; William W Hauswirth; Samuel G Jacobson
Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Investigative ophthalmology & visual science 2010;51(10):5304-13.
2010: Saloni Walia; Gerald A Fishman; Samuel G Jacobson; Tomas S Aleman; Robert K Koenekoop; Elias I Traboulsi; Richard G Weleber; Mark Pennesi; Elise Heon; Arlene Drack; Byron Lam; Rando Allikmets; Edwin M Stone
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Ophthalmology 2010;117(6):1190-8.
2010: Samuel G Jacobson; Alejandro J Roman; Tomas S Aleman; Alexander Sumaroka; Waldo Herrera; Elizabeth A M Windsor; Lori A Atkinson; Sharon B Schwartz; Janet D Steinberg; Artur Vahe Cideciyan
Normal central retinal function and structure preserved in retinitis pigmentosa.
Investigative ophthalmology & visual science 2010;51(2):1079-85.
2009: Tomas S Aleman; Nagasamy Soumittra; Artur Vahe Cideciyan; Alexander M Sumaroka; Vedam Lakshmi Ramprasad; Waldo Herrera; Elizabeth A M Windsor; Sharon B Schwartz; Robert C Russell; Alejandro J Roman; Chris F Inglehearn; Govindasamy Kumaramanickavel; Edwin M Stone; Gerald A Fishman; Samuel G Jacobson
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Investigative ophthalmology & visual science 2009;50(12):5944-54.
2009: Gauri P Misra; Ravi S J Singh; Tomas S Aleman; Samuel G Jacobson; Thomas Gardner; Tao L Lowe
Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina.
Biomaterials 2009;30(33):6541-7.
2009: Artur Vahe Cideciyan; William W Hauswirth; Tomas S Aleman; Shalesh Kaushal; Sharon B Schwartz; Sanford L Boye; Elizabeth A M Windsor; Thomas J Conlon; Alexander Sumaroka; Ji-Jing Pang; Alejandro J Roman; Barry J Byrne; Samuel G Jacobson
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Human gene therapy 2009;20(9):999-1004.
2009: Artur V Cideciyan; William W Hauswirth; Tomas S Aleman; Shalesh Kaushal; Sharon B Schwartz; Sanford L Boye; Elizabeth A M Windsor; Thomas J Conlon; Alexander Sumaroka; Alejandro J Roman; Barry J Byrne; Samuel G Jacobson
Vision 1 year after gene therapy for Leber's congenital amaurosis.
The New England journal of medicine 2009;361(7):725-7.
2009: David S Williams; Tomas S Aleman; Concepcion Lillo; Vanda S Lopes; Louise C Hughes; Edwin M Stone; Samuel G Jacobson
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.
Investigative ophthalmology & visual science 2009;50(8):3881-9.
2009: Tadao Maeda; Artur Vahe Cideciyan; Akiko Maeda; Marcin Golczak; Tomas S Aleman; Samuel G Jacobson; Krzysztof Palczewski
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
Human molecular genetics 2009;18(12):2277-87.
2009: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alejandro J Roman; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Elise Heon; Edwin M Stone
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2009;50(5):2368-75.
2009: Samuel G Jacobson; Tomas S Aleman; Alexander Sumaroka; Artur Vahe Cideciyan; Alejandro J Roman; Elizabeth A M Windsor; Sharon B Schwartz; Heidi L Rehm; William J Kimberling
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Investigative ophthalmology & visual science 2009;50(4):1886-94.
2009: Artur Vahe Cideciyan; Malgorzata Swider; Tomas S Aleman; Yaroslav Tsybovsky; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Alexander Sumaroka; Janet D Steinberg; Samuel G Jacobson; Edwin M Stone; Krzysztof Palczewski
ABCA4 disease progression and a proposed strategy for gene therapy.
Human molecular genetics 2009;18(5):931-41.
2009: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Malgorzata Swider; Waldo Herrera; Edwin M Stone
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.
Molecular vision 2009;15():1098-106.
2009: Tomas S Aleman; Byron Lam; Artur Vahe Cideciyan; Alexander Sumaroka; Elizabeth A M Windsor; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets.
Eye (London, England) 2009;23(1):230-3.
2008: William W Hauswirth; Tomas S Aleman; Shalesh Kaushal; Artur Vahe Cideciyan; Sharon B Schwartz; Lili Wang; Thomas J Conlon; Sanford L Boye; Terence R Flotte; Barry J Byrne; Samuel G Jacobson
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Human gene therapy 2008;19(10):979-90.
2008: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Elise Heon; Edwin M Stone
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2008;49(10):4573-7.
2008: Artur Vahe Cideciyan; Tomas S Aleman; Sanford L Boye; Sharon B Schwartz; Shalesh Kaushal; Alejandro J Roman; Ji-Jing Pang; Alexander Sumaroka; Elizabeth A M Windsor; James M Wilson; Terence R Flotte; Gerald A Fishman; Elise Heon; Edwin M Stone; Barry J Byrne; Samuel G Jacobson; William W Hauswirth
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(39):15112-7.
2008: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Alejandro J Roman; Leigh M Gardner; Haydn M Prosser; Monalisa Mishra; N Torben Bech-Hansen; Waldo Herrera; Sharon B Schwartz; Xue Zhong Liu; William J Kimberling; Karen P Steel; David S Williams
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Human molecular genetics 2008;17(15):2405-15.
2008: Waldo Herrera; Tomas S Aleman; Artur Vahe Cideciyan; Alejandro J Roman; E Banin; Tamar Ben-Yosef; Leigh M Gardner; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Edwin M Stone; Xue Zhong Liu; William J Kimberling; Samuel G Jacobson
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Investigative ophthalmology & visual science 2008;49(6):2651-60.
2008: Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Elizabeth A M Windsor; Waldo Herrera; D Alan White; Shalesh Kaushal; Anjani Naidu; Alejandro J Roman; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.
Investigative ophthalmology & visual science 2008;49(4):1580-90.
2007: Artur Vahe Cideciyan; Tomas S Aleman; Samuel G Jacobson; Hemant Khanna; Alexander Sumaroka; Geoffrey K Aguirre; Sharon B Schwartz; Elizabeth A M Windsor; Shirley He; Bo Chang; Edwin M Stone; Anand Swaroop
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Human mutation 2007;28(11):1074-83.
2007: Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Elizabeth A M Windsor; Janet D Steinberg; Kari E H Branham; Mohammad I Othman; Anand Swaroop; Samuel G Jacobson
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
Investigative ophthalmology & visual science 2007;48(10):4759-65.
2007: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Elise Heon; Marcin Golczak; William A Beltran; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Elizabeth A M Windsor; James M Wilson; Gustavo D Aguirre; Edwin M Stone; Krzysztof Palczewski
Human cone photoreceptor dependence on RPE65 isomerase.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(38):15123-8.
2007: Alejandro J Roman; Artur Vahe Cideciyan; Tomas S Aleman; Samuel G Jacobson
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.
Physiological measurement 2007;28(8):N51-6.
2007: Geoffrey K Aguirre; András M Komáromy; Artur Vahe Cideciyan; David H Brainard; Tomas S Aleman; Alejandro J Roman; Brian Avants; James C Gee; Marc Korczykowski; William W Hauswirth; Gregory M Acland; Gustavo D Aguirre; Samuel G Jacobson
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
PLoS medicine 2007;4(6):e230.
2007: Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Michael Danciger; Debora B Farber
Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation.
The British journal of ophthalmology 2007;91(5):699-701.
2007: Artur Vahe Cideciyan; Malgorzata Swider; Tomas S Aleman; Marisa I Roman; Alexander Sumaroka; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.
Journal of the Optical Society of America. A, Optics, image science, and vision 2007;24(5):1457-67.
2007: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Alejandro J Roman; Edwin M Stone
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
Ophthalmology 2007;114(5):895-8.
2007: Tomas S Aleman; Artur Vahe Cideciyan; Elizabeth A M Windsor; Sharon B Schwartz; Malgorzata Swider; John D Chico; Alexander Sumaroka; Alexander Y Pantelyat; Keith G Duncan; Leigh M Gardner; Jessica M Emmons; Janet D Steinberg; Edwin M Stone; Samuel G Jacobson
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
Investigative ophthalmology & visual science 2007;48(3):1319-29.
2007: Alejandro J Roman; Sanford L Boye; Tomas S Aleman; Ji-Jing Pang; J Hugh McDowell; Shannon E Boye; Artur Vahe Cideciyan; Samuel G Jacobson; William W Hauswirth
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
Molecular vision 2007;13():1701-10.
2007: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Elise Heon; Edwin M Stone; Debra A Thompson
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Investigative ophthalmology & visual science 2007;48(1):332-8.
2006: Amir A Azari; Tomas S Aleman; Artur Vahe Cideciyan; Sharon B Schwartz; Elizabeth A M Windsor; Alexander Sumaroka; Andy Y Cheung; Janet D Steinberg; Alejandro J Roman; Edwin M Stone; Val C Sheffield; Samuel G Jacobson
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Investigative ophthalmology & visual science 2006;47(11):5004-10.
2006: Samuel G Jacobson; Artur Vahe Cideciyan; Alexander Sumaroka; Tomas S Aleman; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Edwin M Stone; Ian M MacDonald
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
Investigative ophthalmology & visual science 2006;47(9):4113-20.
2006: Hong Cheng; Tomas S Aleman; Artur Vahe Cideciyan; Ritu Khanna; Samuel G Jacobson; Anand Swaroop
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.
Human molecular genetics 2006;15(17):2588-602.
2006: Samuel G Jacobson; Sanford L Boye; Tomas S Aleman; Thomas J Conlon; Caroline J Zeiss; Alejandro J Roman; Artur Vahe Cideciyan; Sharon B Schwartz; Andras M Komaromy; Michelle Doobrajh; Andy Y Cheung; Alexander Sumaroka; Susan E Pearce-Kelling; Gustavo D Aguirre; Shalesh Kaushal; Albert M Maguire; Terence R Flotte; William W Hauswirth
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis.
Human gene therapy 2006;17(8):845-58.
2006: Melissa L Williams; Jason E Coleman; Shannon E Haire; Tomas S Aleman; Artur Vahe Cideciyan; Izabel Sokal; Krzysztof Palczewski; Samuel G Jacobson; Susan L Semple-Rowland
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.
PLoS medicine 2006;3(6):e201.
2006: Samuel G Jacobson; Gregory M Acland; Gustavo D Aguirre; Tomas S Aleman; Sharon B Schwartz; Artur Vahe Cideciyan; Caroline J Zeiss; Andras M Komaromy; Shalesh Kaushal; Alejandro J Roman; Elizabeth A M Windsor; Alexander Sumaroka; Susan E Pearce-Kelling; Thomas J Conlon; Vince A Chiodo; Sanford L Boye; Terence R Flotte; Albert M Maguire; Jean Bennett; William W Hauswirth
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection.
Molecular therapy : the journal of the American Society of Gene Therapy 2006;13(6):1074-84.
2005: Artur Vahe Cideciyan; Malgorzata Swider; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Marisa I Roman; Ann H Milam; Jean Bennett; Edwin M Stone; Samuel G Jacobson
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.
Investigative ophthalmology & visual science 2005;46(12):4739-46.
2005: Gregory M Acland; Gustavo D Aguirre; Jean Bennett; Tomas S Aleman; Artur Vahe Cideciyan; Jeannette Bennicelli; Nadine S Dejneka; Susan E Pearce-Kelling; Albert M Maguire; Krzysztof Palczewski; William W Hauswirth; Samuel G Jacobson
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;12(6):1072-82.
2005: Joshua L Dunaief; D. Chimene Richa; Edward P Franks; Robert L Schultze; Tomas S Aleman; John F Schenck; Earl A Zimmerman; David G Brooks
Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload.
Ophthalmology 2005;112(6):1062-5.
2005: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Elias Traboulsi; Elise Heon; Steven J Pittler; Ann H Milam; Albert M Maguire; Krzysztof Palczewski; Edwin M Stone; Jean Bennett
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(17):6177-82.
2005: Artur Vahe Cideciyan; Samuel G Jacobson; Tomas S Aleman; Danian Gu; Susan E Pearce-Kelling; Alexander Sumaroka; Gregory M Acland; Gustavo D Aguirre
In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(14):5233-8.
2005: Corinna Lebherz; Albert M Maguire; Alberto Auricchio; Waixing Tang; Tomas S Aleman; Zhangyong Wei; Rebecca Grant; Artur Vahe Cideciyan; Samuel G Jacobson; James M Wilson; Jean Bennett
Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor.
Diabetes 2005;54(4):1141-9.
2005: Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; Elizabeth A M Windsor; Alexander Sumaroka; Alejandro J Roman; Tej Rane; Elaine E Smilko; Jean Bennett; Edwin M Stone; William J Kimberling; Xue Zhong Liu; Samuel G Jacobson
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Investigative ophthalmology & visual science 2005;46(2):734-43.
2005: Alejandro J Roman; Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; John D Chico; Elizabeth A M Windsor; Leigh M Gardner; Gui-Shuang Ying; Elaine E Smilko; Maureen G Maguire; Samuel G Jacobson
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures.
Experimental eye research 2005;80(2):259-72.
2004: Alan F Wright; Adam C Reddick; Sharon B Schwartz; Julie S Ferguson; Tomas S Aleman; Ulrich Kellner; Bernhard Jurklies; Andreas Schuster; Eberhart Zrenner; Bernd Wissinger; Alan Lennon; Xinhua Shu; Artur Vahe Cideciyan; Edwin M Stone; Samuel G Jacobson; Anand Swaroop
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Human mutation 2004;24(5):439.
2004: Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur Vahe Cideciyan; Sharon B Schwartz; Alejandro J Roman; Roderick R McInnes; Val C Sheffield; Edwin M Stone; Anand Swaroop; Alan F Wright
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
Human molecular genetics 2004;13(17):1893-902.
2004: Tomas S Aleman; Samuel G Jacobson; John D Chico; Michele L Scott; Andy Y Cheung; Elizabeth A M Windsor; Masatoshi Furushima; T Michael Redmond; Jean Bennett; Krzysztof Palczewski; Artur Vahe Cideciyan
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis.
Investigative ophthalmology & visual science 2004;45(4):1259-71.
2004: Artur Vahe Cideciyan; Tomas S Aleman; Malgorzata Swider; Sharon B Schwartz; Janet D Steinberg; Alexander J Brucker; Albert M Maguire; Jean Bennett; Edwin M Stone; Samuel G Jacobson
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
Human molecular genetics 2004;13(5):525-34.
2004: Nadine S Dejneka; Enrico M Surace; Tomas S Aleman; Artur Vahe Cideciyan; Arkady L Lyubarsky; Andrey Savchenko; T Michael Redmond; Waixing Tang; Zhangyong Wei; Tonia Rex; Ernest Glover; Albert M Maguire; Edward N Pugh; Samuel G Jacobson; Jean Bennett
In utero gene therapy rescues vision in a murine model of congenital blindness.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;9(2):182-8.
2003: Sharon B Schwartz; Tomas S Aleman; Artur Vahe Cideciyan; Anand Swaroop; Samuel G Jacobson; Edwin M Stone
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
Investigative ophthalmology & visual science 2003;44(8):3593-7.
2003: Samuel G Jacobson; Artur Vahe Cideciyan; Tomas S Aleman; Michael J Pianta; Alexander Sumaroka; Sharon B Schwartz; Elaine E Smilko; Ann H Milam; Val C Sheffield; Edwin M Stone
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Human molecular genetics 2003;12(9):1073-8.
2003: Ann H Milam; Mark R Barakat; Nisha Gupta; Linda Rose; Tomas S Aleman; Michael J Pianta; Artur Vahe Cideciyan; Val C Sheffield; Edwin M Stone; Samuel G Jacobson
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
Ophthalmology 2003;110(3):549-58.
2003: Michael J Pianta; Tomas S Aleman; Artur Vahe Cideciyan; Janet S Sunness; Yuanyuan Li; Betsy A Campochiaro; Peter A Campochiaro; Donald J Zack; Edwin M Stone; Samuel G Jacobson
In vivo micropathology of Best macular dystrophy with optical coherence tomography.
Experimental eye research 2003;76(2):203-11.
2002: Tomas S Aleman; Artur Vahe Cideciyan; Nicholas J Volpe; Giovanni Stevanin; Alexis Brice; Samuel G Jacobson
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
Experimental eye research 2002;74(6):737-45.
2002: James W Kijas; Artur Vahe Cideciyan; Tomas S Aleman; Michael J Pianta; Susan E Pearce-Kelling; Brian J Miller; Samuel G Jacobson; Gustavo D Aguirre; Gregory M Acland
Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(9):6328-33.
2002: Jacque L Duncan; Tomas S Aleman; Leigh M Gardner; Elaine De Castro; Daniel A Marks; Jessica M Emmons; Michelle L Bieber; Janet D Steinberg; Jean Bennett; Edwin M Stone; Ian M MacDonald; Artur Vahe Cideciyan; Maureen G Maguire; Samuel G Jacobson
Macular pigment and lutein supplementation in choroideremia.
Experimental eye research 2002;74(3):371-81.
2002: Ann H Milam; Linda Rose; Artur Vahe Cideciyan; Mark R Barakat; Wai-Xing Tang; Nisha Gupta; Tomas S Aleman; Alan F Wright; Edwin M Stone; Val C Sheffield; Samuel G Jacobson
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(1):473-8.
2001: Fong-Qi Liang; Tomas S Aleman; Nadine S Dejneka; Lorita Dudus; Krishna J Fisher; Albert M Maguire; Samuel G Jacobson; Jean Bennett
Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa.
Molecular therapy : the journal of the American Society of Gene Therapy 2001;4(5):461-72.
2001: Tomas S Aleman; Matthew M LaVail; R Montemayor; Gui-Shuang Ying; Maureen G Maguire; Alan M Laties; Samuel G Jacobson; Artur Vahe Cideciyan
Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats.
Vision research 2001;41(21):2779-97.
2001: Tomas S Aleman; Jacque L Duncan; M L Bieber; Elaine De Castro; D A Marks; Leigh M Gardner; Janet D Steinberg; Artur Vahe Cideciyan; Maureen G Maguire; Samuel G Jacobson
Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome.
Investigative ophthalmology & visual science 2001;42(8):1873-81.
2001: Gregory M Acland; Gustavo D Aguirre; J Ray; Q Zhang; Tomas S Aleman; Artur Vahe Cideciyan; Susan E Pearce-Kelling; Vibha Anand; Yong Zeng; Albert M Maguire; Samuel G Jacobson; William W Hauswirth; Jean Bennett
Gene therapy restores vision in a canine model of childhood blindness.
Nature genetics 2001;28(1):92-5.
2001: Fong-Qi Liang; Tomas S Aleman; Artur Vahe Cideciyan; Samuel G Jacobson; Jean Bennett
Melatonin delays photoreceptor degeneration in the rds/rds mouse.
Neuroreport 2001;12(5):1011-4.
2001: Susan E Pearce-Kelling; Tomas S Aleman; A Nickle; Alan M Laties; Gustavo D Aguirre; Samuel G Jacobson; Gregory M Acland
Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa.
Molecular vision 2001;7():42-7.
2000: W J Poehner; M Fossarello; A L Rapoport; Tomas S Aleman; Artur Vahe Cideciyan; Samuel G Jacobson; Alan F Wright; Michael Danciger; Debora B Farber
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
Molecular vision 2000;6():192-8.
2000: Artur Vahe Cideciyan; Francoise Haeseleer; Robert Fariss; Tomas S Aleman; G F Jang; Christophe Verlinde; Michael F Marmor; Samuel G Jacobson; Krzysztof Palczewski
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.
Visual neuroscience 2000;17(5):667-78.
2000: J Preston Van Hooser; Tomas S Aleman; Yu-Guang He; Artur Vahe Cideciyan; Vladimir Kuksa; S J Pittler; E M Stone; S G Jacobson; Krzysztof Palczewski
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(15):8623-8.
1999: Jean Bennett; Albert M Maguire; Artur Vahe Cideciyan; Matthias J Schnell; Ernest Glover; Vibha Anand; Tomas S Aleman; Narendra Chirmule; AR Gupta; Y Huang; Guang-Ping Gao; W C Nyberg; John Tazelaar; J Hughes; James M Wilson; Samuel G Jacobson
Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(17):9920-5.