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1 . Academic Journal
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
저자
by
Carpentieri, Giovanna
;
Cecchetti, Serena
;
Bocchinfuso, Gianfranco
;
Radio, Francesca Clementina
;
Leoni, Chiara
, et al.
소스
In
Human Genetics and Genomics Advances
10 October 2024 5(4)
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7 . Academic Journal
Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk
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by
Negro, Silvia
;
Bao, Quoc Riccardo
;
Scarpa, Marco
;
Scognamiglio, Federico
;
Pucciarelli, Salvatore
, et al.
소스
In
Digestive and Liver Disease
June 2024 56(6):1087-1094
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7 . Academic Journal
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
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by
Mastromoro, Gioia
;
Santoro, Claudia
;
Motta, Marialetizia
;
Sorrentino, Ugo
;
Daniele, Paola
, et al.
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In
Genetics in Medicine
August 2024
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7 . Academic Journal
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
저자
by
Montioli, Riccardo
;
Bellezza, Ilaria
;
Desbats, Maria Andrea
;
Borri Voltattorni, Carla
;
Salviati, Leonardo
, et al.
소스
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BBA - Proteins and Proteomics
January 2021 1869(1)
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7 . Academic Journal
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
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Di Iorio, Enzo
;
Adamo, Ginevra Giovanna
;
Sorrentino, Ugo
;
De Nadai, Katia
;
Barbaro, Vanessa
, et al.
소스
Scientific Reports
. 8/10/2024, Vol. 14 Issue 1, p1-9. 9p.
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7 . Academic Journal
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
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by
Franco-Romero, Anais
;
Morbidoni, Valeria
;
Milan, Giulia
;
Sartori, Roberta
;
Wulff, Jesper
, et al.
소스
Journal of Clinical Investigation
. 8/1/2024, Vol. 134 Issue 15, p1-17. 18p.
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7 . Academic Journal
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina
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by
Montioli, Riccardo
;
Desbats, Maria Andrea
;
Grottelli, Silvia
;
Doimo, Mara
;
Bellezza, Ilaria
, et al.
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In
BBA - Molecular Basis of Disease
November 2018 1864(11):3629-3638
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7 . Academic Journal
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases
저자
by
Cassina, Matteo
;
Calò, Annapaola
;
Salviati, Leonardo
;
Alghisi, Alberta
;
Montaldi, Annamaria
, et al.
소스
In
European Journal of Obstetrics and Gynecology
February 2018 221:23-27
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7 . Academic Journal
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
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Pelosi, Ludovic
;
Morbiato, Laura
;
Burgardt, Arthur
;
Tonello, Fiorella
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Bartlett, Abigail K.
, et al.
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Molecular Cell
7 March 2024 84(5):981-989
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7 . Academic Journal
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence
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by
Tezze, Caterina
;
Romanello, Vanina
;
Desbats, Maria Andrea
;
Fadini, Gian Paolo
;
Albiero, Mattia
, et al.
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Cell Metabolism
6 June 2017 25(6):1374-1389
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