Publications:

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

International Journal Of Molecular Sciences

Napolitano, Filomena F; Bruno, Giorgia G; Terracciano, Chiara C; Franzese, Giuseppina G; Palomba, Nicole Piera NP; Scotto di Carlo, Federica F; Signoriello, Elisabetta E; De Blasiis, Paolo P; Navarro, Stefano S; Gialluisi, Alessandro A; Melone, Mariarosa Anna Beatrice MAB; Sampaolo, Simone S; Esposito, Teresa T

Publication Date: 2021-03-31

Variant appearance in text: N/A

PubMed Link: 33807278

Variant Present in the following documents:

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Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Orphanet Journal Of Rare Diseases

Sampaolo, Simone S; Esposito, Teresa T; Farina, Olimpia O; Formicola, Daniela D; Diodato, Daria D; Gianfrancesco, Fernando F; Cipullo, Federica F; Cremone, Gaetana G; Cirillo, Mario M; Del Viscovo, Luca L; Toscano, Antonio A; Angelini, Corrado C; Di Iorio, Giuseppe G

Publication Date: 2013-10-10

Variant appearance in text: N/A

PubMed Link: 24107549

Variant Present in the following documents:

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