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American Journal of Medical Genetics. Part A|March 7, 2020
Expansion of the phenotype of lateral meningocele syndromeGerarda Cappuccio, Diletta Apuzzo, Marianna Alagia, et al.EMBO Molecular Medicine|December 15, 2012
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyesAlessia Indrieri, Ivan Conte, Giancarlo Chesi, et al.Scientific Reports|June 17, 2020
α-synuclein overexpression in the retina leads to vision impairment and degeneration of dopaminergic amacrine cellsElena Marrocco, Alessia Indrieri, Federica Esposito, et al.Journal of Bioenergetics and Biomembranes|October 13, 2006
PRUNE and NM23-M1 expression in embryonic and adult mouse brainPietro Carotenuto, Natascia Marino, Anna Maria Bello, et al.Orphanet Journal of Rare Diseases|April 15, 2021
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variantClaudia Mandato, Maria Anna Siano, Lucia Nazzaro, et al.The EMBO Journal|December 28, 2020
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagyManuela Morleo, Simona Brillante, Umberto Formisano, et al.Iscience|May 30, 2023
Single-cell proteo-genomic reveals a comprehensive map of centrosome-associated spliceosome componentsLuigi Cerulo, Nunziana Pezzella, Francesca Pia Caruso, et al.Orphanet Journal of Rare Diseases|June 3, 2014
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyEnnio Del Giudice, Marina Macca, Floriana Imperati, et al.Journal of the American Society of Nephrology : JASN|February 22, 2003
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cellsLeila Romio, Victoria Wright, Karen Price, et al.American Journal of Physiology. Gastrointestinal and Liver Physiology|April 28, 2020
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine modelsEstanislao Peixoto, Sujeong Jin, Kristen Thelen, et al.Pageof 13