Suchergebnisse - "Martinez-Fernandez de la Camara, Cristina"

PubPharm (32)

1

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

enthalten in: Ophthalmic genetics | 2024

von Waldock, W. | Taylor, L. | Sperring, S. | +6

2

Is RPGR-related retinal dystrophy associated with systemic disease? A case series

enthalten in: Ophthalmic genetics | 2023

von Han, R. | Taylor, L. | Martinez-Fernandez de la Camara, C. | +4

3

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center

enthalten in: Biomolecules | 2023

von Kiraly, P. | Cottriall, C. | Taylor, L. | +8

4

Developmental Expression of the Cell Cycle Regulator p16INK4a in Retinal Glial Cells : A Novel Marker for Immature Ocular Astrocytes?

enthalten in: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society | 2023

von Martinez-Fernandez de la Camara, C. | Storm, T. | Salman, A. | +7

5

COMPOSITIONS AND METHODS FOR TREATING MACULAR DYSTROPHY

enthalten in: Europäisches Patentamt | 2023

von MACLAREN ROBERT E | MARTINEZ-FERNANDEZ DE LA CAMARA CRISTINA | ROBINSON GREGORY S

6

Response : 'letter to the editor: emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa'

enthalten in: Expert opinion on emerging drugs | 2022

von Martinez-Fernandez de la Camara, C. | Cehajic-Kapetanovic, J. | MacLaren, R.

CommentOn: Expert Opin Emerg Drugs. 2022 Dec;27(4):431-443. - PMID 36562395

7

Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa

enthalten in: Expert opinion on emerging drugs | 2022

von Martinez-Fernandez de la Camara, C. | Cehajic-Kapetanovic, J. | MacLaren, R.

CommentIn: Expert Opin Emerg Drugs. 2022 Dec;27(4):449-450. - PMID 36562394

8

Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2022

von Cehajic-Kapetanovic, J. | Martinez-Fernandez de la Camara, C. | Birtel, J. | +5

9

Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa

enthalten in: Expert opinion on emerging drugs | 2022

von Martinez-Fernandez de la Camara, C. | Cehajic-Kapetanovic, J. | MacLaren, R.

10

Response: ‘letter to the editor: emerging gene therapy products forRPGR-associated X-linked retinitis pigmentosa’

enthalten in: Expert opinion on emerging drugs | 2022

von Martinez-Fernandez de la Camara, C. | Cehajic-Kapetanovic, J. | MacLaren, R.