✦ LIBER ✦

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa

✍ Scribed by Aherne, A.

Book ID: 127072226
Publisher: Oxford University Press
Year: 2004
Tongue: English
Weight: 360 KB
Volume: 13
Category: Article
ISSN: 0964-6906
DOI: 10.1093/hmg/ddh061

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypic Characterization of a Large F

Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

✍ Petra Kozma; Dianna K. Hughbanks-Wheaton; Kirsten G. Locke; Garry E. Fish; Anisa 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 621 KB

Molecular recruitment as a basis for neg

Molecular recruitment as a basis for negative dominant inheritance? Propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa

✍ Xiao-tao Wang; Brian Mion; Aileen Aherne; Paul C. Engel 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 379 KB

New developments in molecular imaging of

New developments in molecular imaging of the pathology of neurodegeneration

✍ Villemagne, Victor L. 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 43 KB

Molecular-physiological aspects of pepti

Molecular-physiological aspects of peptide regulation of the function of the retina in retinitis pigmentosa

✍ Khavinson, V. Kh.; Pronyaeva, V. E.; Linkova, N. S.; Trofimova, S. V.; Umnov, R. 📂 Article 📅 2014 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 168 KB

Molecular analysis of the ABCA4 gene in

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa

✍ Rıza Köksal Özgü; Hakan Durukan; Ayşe Turan; Cihan Öner; Ay Öğüş; Debora B. Farb 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB

The clinical importance of sequence variations in the ABCA4 gene has been extensively discussed during the last decade. Mutations in the ABCA4 gene are involved in several forms of inherited retinal degenerations. We screened all 50 exons of the ABCA4 gene in a cohort of 5 Stargardt Disease (STGD) a

A three-base-pair deletion in the periph

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

✍ Farrar, G. Jane; Kenna, Paul; Jordan, Siobhán A.; Kumar-Singh, Rajendra; Humphri 📂 Article 📅 1991 🏛 Nature Publishing Group 🌐 English ⚖ 506 KB