Concepedia

Fabiana Fattori

FF

39

Publications

1.3K

Citations

20

H-Index

2006

Active since

Affiliations

Bambino Gesù Children's Hospital(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Fondazione Stella Maris

Istituto Giannina Gaslini

Università Cattolica del Sacro Cuore

Fabiana Fattori is an author at Bambino Gesù Children's Hospital specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

2006–2022

39

Publications

39

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

R. Schindler, C. Scotton, Jianguo Zhang et al. · Journal of Clinical Investigation · 2015 · 101 citations · Full text

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Johann Böhm, Frédéric Chevessier, Catherine Koch et al. · Journal of Medical Genetics · 2014 · 92 citations

Pontocerebellar hypoplasia type 6 caused by mutations in <i>RARS2</i>: definition of the clinical spectrum and molecular findings in five patients

Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi et al. · Journal of Inherited Metabolic Disease · 2012 · 78 citations

Supratentorial and pontine <scp>MRI</scp> abnormalities characterize recessive spastic ataxia of <scp>C</scp>harlevoix‐<scp>S</scp>aguenay. A comprehensive study of an <scp>I</scp>talian series

Elena Prodi, Marina Grisoli, Marta Panzeri et al. · European Journal of Neurology · 2012 · 72 citations

MRI in sarcoglycanopathies: a large international cohort study

Giorgio Tasca, Mauro Monforte, Jordi Díaz‐Manera et al. · Journal of Neurology Neurosurgery & Psychiatry · 2017 · 69 citations

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