Suchergebnisse - "Zampatti, Stefania"

PubPharm (71)

1

Innovations in Medicine : Exploring ChatGPT's Impact on Rare Disorder Management

enthalten in: Genes | 2024

von Zampatti, S. | Peconi, C. | Megalizzi, D. | +6

2

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects : a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation

enthalten in: Frontiers in neurology | 2024

von Giardina, E. | Mandich, P. | Ghidoni, R. | +41

3

Harmonizing Genetic Testing for Parkinson's Disease : Results of the PARKNET Multicentric Study

enthalten in: Movement disorders : official journal of the Movement Disorder Society | 2023

von Di Fonzo, A. | Percetti, M. | Monfrini, E. | +52

4

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy

enthalten in: Genes | 2023

von Zampatti, S. | Peconi, C. | Calvino, G. | +7

5

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin : A Case Report

enthalten in: Genes | 2023

von Graziani, L. | Zampatti, S. | Carriero, M. | +5

6

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A

enthalten in: European journal of translational myology | 2023

von Mastrapasqua, M. | Rossi, R. | De Cosmo, L. | +11

7

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

enthalten in: Frontiers in neurology | 2023

von Ferese, R. | Scala, S. | Suppa, A. | +16

8

Harmonizing Genetic Testing for Parkinson's Disease : Results of the PARKNET Multicentric Study

enthalten in: Movement Disorders | 2023

von Di Fonzo, A. | Percetti, M. | Monfrini, E. | +27

9

The Future of Pharmacogenomics Requires New Discoveries and Innovative Education

enthalten in: Genes | 2022

von Giardina, E. | Zampatti, S.

10

Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

enthalten in: Clinical genetics | 2022

von Ferese, R. | Scala, S. | Suppa, A. | +17

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