Search Result "autosomal dominant rp"


Review Article

Clinical Characteristics and Possible Drug Targets in Autosomal Dominant Spinocerebellar Ataxias

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 18 Issue: 4 Year: 2019 Page: 279-293
Author(s): Laszlo Szpisjak,Denes Zadori,Peter Klivenyi,Laszlo Vecsei

Gene-Based Therapies for Dominant Retinopathies

Journal: Current Gene Therapy
Volume: 10 Issue: 5 Year: 2010 Page: 381-388
Author(s): G. Jane Farrar, Arpad Palfi, Paul F.Kenna, Mary OReilly

Research Article

Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa

Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 287-294
Author(s): Z. Wu,M. Zhong,M. Li,H. Huang,J. Liao,A. Lu,K. Guo,N. Ma,J. Lin,J. Duan,L. Liu,F. Xu,Z. Zhong,J. Chen

Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 260-266
Author(s): Alessandro Galan, Marzio Chizzolini, Elisabeth Milan, Adolfo Sebastiani, Ciro Costagliola, Francesco Parmeggiani

Retinitis Pigmentosa: Genes and Disease Mechanisms

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 238-249
Author(s): Francesco Parmeggiani, Francesco S. Sorrentino, Diego Ponzin, Vanessa Barbaro, Stefano Ferrari, Enzo Di Iorio

Research Article open access plus

Combined Transcriptomic and Proteomic Analyses of Cerebral Frontal Lobe Tissue Identified RNA Metabolism Dysregulation as One Potential Pathogenic Mechanism in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Journal: Current Neurovascular Research
Volume: 16 Issue: 5 Year: 2019 Page: 481-493
Author(s): Marie-Françoise Ritz,Paul Jenoe,Leo Bonati,Stefan Engelter,Philippe Lyrer,Nils Peters

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 267-275
Author(s): Susie Chang, Leah Vaccarella, Sunday Olatunji, Colleen Cebulla, John Christoforidis

Molecular Biology of Retinitis Pigmentosa: Therapeutic Implications

Journal: Current Pharmacogenomics
Volume: 2 Issue: 4 Year: 2004 Page: 339-349
Author(s): E. Ramon, L. J. del Valle, P. Garriga

AKT: A Potential Target for Thyroid Cancer Therapy

Journal: Current Drug Targets - Immune, Endocrine & Metabolic Disorders
Volume: 4 Issue: 3 Year: 2004 Page: 181-185
Author(s): Faiza Kada, Motoyasu Saji, Matthew D. Ringel

Inherited Renal Diseases

Journal: Current Pediatric Reviews
Volume: 10 Issue: 2 Year: 2014 Page: 95-100
Author(s): Jocelyn C. Leung

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