Search Result "autosomal recessive disorder"
Current and Promising Therapies in Autosomal Recessive Ataxias
Journal: CNS & Neurological Disorders - Drug Targets
Volume: 17 Issue: 3 Year: 2018 Page: 161-171
Author(s): Vincent Picher-Martel,Nicolas Dupre
Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/ Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily
Journal: Current Pediatric Reviews
Volume: 3 Issue: 4 Year: 2007 Page: 328-331
Author(s): Motti Haimi, Ruth Gershoni-Baruch
AAV-Mediated Gene Therapy in Mouse Models of Recessive Retinal Degeneration
Journal: Current Molecular Medicine
Volume: 12 Issue: 3 Year: 2012 Page: 316-330
Author(s): J.-J. Pang, L. Lei, X. Dai, W. Shi, X. Liu, A. Dinculescu, J. H. McDowell
Computational Analysis of TRAPPC9: Candidate Gene for Autosomal Recessive Non-Syndromic Mental Retardation
Journal: CNS & Neurological Disorders - Drug Targets
Volume: 13 Issue: 4 Year: 2014 Page: 699-711
Author(s): Naureen Aslam Khattak,Asif Mir
Autosomal Recessive Hereditary Spastic Paraplegia: A Rare Case of a Family with Phenotypic Variation
Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 17 Issue: 3 Year: 2020 Page: 211-215
Author(s): Mor Saban,Tal Shachar
PC9, A New Actor in Autosomal Dominant Hypercholesterolemia
Journal: Current Genomics
Volume: 6 Issue: 7 Year: 2005 Page: 535-543
Author(s): Delphine Allard, Marianne Abifadel, Jean-Pierre Rabes, Mathilde Varret
Molecular Genetics of Familial Exudative Vitreoretinopathy and Norrie Disease
Journal: Current Genomics
Volume: 1 Issue: 3 Year: 2000 Page: 259-269
Author(s): Barkur S. Shastry, Miki Hiraoka
Targeted Therapies for Autosomal Dominant Polycystic Kidney Disease
Journal: Current Medicinal Chemistry
Volume: 26 Issue: 17 Year: 2019 Page: 3081-3102
Author(s): Cherie Stayner,Darby G. Brooke,Michael Bates,Michael R. Eccles
Lafora Progressive Myoclonus Epilepsy: Recent Insights into Cell Degeneration
Journal: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
Volume: 6 Issue: 2 Year: 2012 Page: 99-107
Author(s): Carlos Spuch,Saida Ortolano,Carmen Navarro
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