Concepedia

Giulia Iapadre

GI

Statistics

Publications

4

Citations

62

H-Index

4

Active since

2018

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Istituto Giannina Gaslini

University of L'Aquila

University of Genoa

McGill University

Giulia Iapadre is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, neurophysiology, and neuroanatomy.

Top concepts

MedicineGeneticsNeurologyPathologyNeuroanatomyNeuroscienceNeuropathologyNeurophysiologySocial SciencesMolecular Genetics

Publications per year

2018–2023

4

Publications

4

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype

Giulia Iapadre, Giovanni Morana, Maria Stella Vari et al. · European Journal of Paediatric Neurology · 2018 · 22 citations

Mendelian Disorder, Genetic Disorder, Atypical Cmt2 Phenotype +6

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca et al. · Genetics in Medicine · 2022 · 16 citations · Full text

Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study

Giulia Iapadre, Luca Zagaroli, Nicola Cimini et al. · Epilepsy & Behavior · 2019 · 14 citations

Neurophysiology, Neuroanatomy, Medicine +8

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

Giovanna Scorrano, Gianluca D’Onofrio, Andrea Accogli et al. · Pediatric Neurology · 2023 · 10 citations

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