Page last updated: 2024-08-17

nad and Amaurosis, Leber Congenital

nad has been researched along with Amaurosis, Leber Congenital in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (33.33)24.3611
2020's2 (66.67)2.80

Authors

AuthorsStudies
Alavi, A; Ghasemi, A; Rohani, M; Sadr, Z1
Ayuso, C; Banfi, S; Bedoni, N; Brunetti-Pierri, N; Cappuccio, G; Corton, M; Di Rocco, M; Filocamo, M; Lanza, F; Lualdi, S; Morana, G; Nigro, V; Pinelli, M; Quinodoz, M; Rivolta, C; Simonelli, F; Superti-Furga, A; Testa, F; Torella, A1
Arai, E; Baba, Y; Iwagawa, T; Kuribayashi, H; Murakami, A; Watanabe, S1

Other Studies

3 other study(ies) available for nad and Amaurosis, Leber Congenital

ArticleYear
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
    Neuromuscular disorders : NMD, 2023, Volume: 33, Issue:4

    Topics: Humans; Leber Congenital Amaurosis; Mutation; NAD; Nicotinamide-Nucleotide Adenylyltransferase; Pedigree; Spastic Paraplegia, Hereditary

2023
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
    Human molecular genetics, 2020, 08-03, Volume: 29, Issue:13

    Topics: Adolescent; Animals; Child; Child, Preschool; Disease Models, Animal; Exons; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Humans; Infant; Intellectual Disability; Leber Congenital Amaurosis; Male; Mice; Mutation; NAD; Nicotinamide-Nucleotide Adenylyltransferase; Osteochondrodysplasias; Pedigree; Retinal Degeneration

2020
Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation.
    Cell death & disease, 2018, 08-30, Volume: 9, Issue:9

    Topics: Acetylation; Animals; Apoptosis; fas Receptor; Histones; Leber Congenital Amaurosis; Mice; Mice, Inbred ICR; NAD; Nicotinamide-Nucleotide Adenylyltransferase; Organ Culture Techniques; Proto-Oncogene Proteins c-bcl-2; Retina; RNA Interference; RNA, Small Interfering; Sirtuin 1; Sirtuins; Stem Cells

2018