Concepedia

Mariateresa Zanobio

MZ

5

Publications

105

Citations

5

H-Index

2020

Active since

Affiliations

University of Campania "Luigi Vanvitelli"(Current)

Telethon Institute Of Genetics And Medicine

University of Naples Federico II

Mariateresa Zanobio is an author at University of Campania "Luigi Vanvitelli" specializing in medicine, genetics, and synaptic signaling.

Top concepts

GeneticsMedicineNeuroscienceBiostatisticsMorphogenesisNeurogeneticsNeurogenomicsBioinformaticsNeuropathologySocial Sciences

Publications per year

2020–2023

5

Publications

5

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli et al. · PLoS ONE · 2020 · 56 citations · Full text

Dmd Mutations, Genetic Diseases, Functional Genomics +13

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Erik Rosenhahn, Thomas O’Brien, Maha S. Zaki et al. · The American Journal of Human Genetics · 2022 · 16 citations · Full text

Synapse Formation, Neurogenomics, Brain Development +21

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Annalaura Torella, Ivana Ricca, Giulio Piluso et al. · Journal of Neurology · 2023 · 12 citations · Full text

Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells

Tiziana Fioretti, Armando Cevenini, Mariateresa Zanobio et al. · International Journal of Molecular Sciences · 2021 · 11 citations · Full text

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Maria Elena Onore, Annalaura Torella, Francesco Musacchia et al. · Genes · 2021 · 10 citations · Full text

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