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List of works by Celeste Panteghini

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

scientific article published in June 2012

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

scientific article published on 11 August 2021

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

scientific article

EIF2AK2 missense variants associated with early-onset generalized dystonia

scientific article published on 24 November 2020

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

scientific journal article

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

scientific article

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