Telethon Institute of Genetics and Medicine (TIGEM)
Research facility
Location:
Naples,
Italy (IT)
ISNI: 0000000417581171
ROR: https://ror.org/04xfdsg27
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024)
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al.
Journal article
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (2023)
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, et al.
Journal article
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications (2022)
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, et al.
Journal article
De novo variants in ATP2B1 lead to neurodevelopmental delay (2022)
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, et al.
Journal article
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021)
Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al.
Journal article
A High-Calorie Diet Aggravates Mitochondrial Dysfunction and Triggers Severe Liver Damage in Wilson Disease Rats (2019)
Einer C, Leitzinger C, Lichtmannegger J, Eberhagen C, Rieder T, Borchard S, Wimmer R, et al.
Journal article