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1.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33807278
2.
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
J Cell Physiol
; 233(8): 5829-5837, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29215735
3.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Genes (Basel)
; 13(7)2022 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-35885913
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