Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
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Full title
Author / Creator
Zambon, Alberto A. , Ghezzi, Daniele , Baldoli, Cristina , Cutillo, Gianni , Fontana, Katia , Sofia, Valentina , Patricelli, Maria Grazia , Nasca, Alessia , Vinci, Stefano , Spiga, Ivana , Lamantea, Eleonora , Fanelli, Giovanna F. , Sora, Maria Grazia Natali , Rovelli, Rosanna , Poloniato, Antonella , Carrera, Paola , Filippi, Massimo and Barera, Graziano
Publisher
Bognor Regis: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
Bognor Regis: John Wiley & Sons, Inc
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Scope and Contents
Contents
ObjectivesPathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1-related disorders.MethodsWe performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, cl...
Alternative Titles
Full title
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
Authors, Artists and Contributors
Author / Creator
Ghezzi, Daniele
Baldoli, Cristina
Cutillo, Gianni
Fontana, Katia
Sofia, Valentina
Patricelli, Maria Grazia
Nasca, Alessia
Vinci, Stefano
Spiga, Ivana
Lamantea, Eleonora
Fanelli, Giovanna F.
Sora, Maria Grazia Natali
Rovelli, Rosanna
Poloniato, Antonella
Carrera, Paola
Filippi, Massimo
Barera, Graziano
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_439d872073f24f368bf348072bff3b08
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_439d872073f24f368bf348072bff3b08
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51876
