Concepedia

Alessia Micalizzi

AM

Statistics

Publications

22

Citations

760

H-Index

16

Active since

2013

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Bambino Gesù Children's Hospital

Casa Sollievo della Sofferenza

University of Pavia

University of Salerno

Alessia Micalizzi is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in life sciences, genetics, and genetic disorders.

ORCID

Publications per year

2013–2023

22

Publications

22

A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre et al. · Human Mutation · 2013 · 128 citations · Full text

, , +17

Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes

Susanne Roosing, Marta Romani, Mala Isrie et al. · Journal of Medical Genetics · 2016 · 65 citations · Full text

, , +11

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Roberta De Mori, Marta Romani, Stefano D’Arrigo et al. · The American Journal of Human Genetics · 2017 · 63 citations · Full text

, , +17

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Alessia Micalizzi, Andrea Poretti, Marta Romani et al. · European Journal of Human Genetics · 2016 · 61 citations · Full text

, , +16

Age and sex prevalence estimate of Joubert syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino et al. · Neurology · 2020 · 47 citations · Full text

, , +13

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