Federica Invernizzi

Vita-Salute San Raffaele University — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index4.5kcitations116works1.22yr avg
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Research Topics

Mitochondrial Function and Pathology(47), Metabolism and Genetic Disorders(36), ATP Synthase and ATPases Research(18), RNA modifications and cancer(16), Parkinson's Disease Mechanisms and Treatments(13)

Publications116 total

Efficacy and Safety of Lenvatinib Versus Sorafenib in Recurrent HCC After Liver Transplant: A Multi‐Center Real‐World Study
Hepatology Research·2025· 1 cited
Effects of <i>GBA1</i> Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The <scp>EPIC</scp> Study
European Journal of Neurology·2025· 2 citedOpen Access
Gender Is the Main Predictor of Wearing‐Off and Dyskinesia in Levodopa‐Naïve Patients with Parkinson's Disease
Movement Disorders Clinical Practice·2025· 3 citedOpen Access
Myoclonic manifestations and skin inclusions as diagnostic clues in ATP13A2-related disorders
Parkinsonism & Related Disorders·2025
<i>CLN6</i>‐related continuum phenotype caused by aberrant splicing
Epilepsia Open·2024· 1 citedOpen Access
Determination of Ambroxol Levels in Plasma and Cerebrospinal Fluid by Online Solid-Phase Extraction Coupled with Liquid Chromatography-Tandem Mass Spectrometry in GBA-Parkinson Disease Patients
Parkinsonism & Related Disorders·2024
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years
Parkinsonism & Related Disorders·2023· 4 cited
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
Movement Disorders·2023· 9 citedOpen Access
Unraveling Autonomic Dysfunction in <scp>GBA</scp>‐Related Parkinson's Disease
Movement Disorders Clinical Practice·2023· 17 citedOpen Access
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
Genes·2023· 5 citedOpen Access
Variants in <i>ATP5F1B</i> are associated with dominantly inherited dystonia
Brain·2023· 17 citedOpen Access
Two Cases of <scp><i>TMEM151A</i></scp>‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of <scp>PRRT2</scp>‐Negative Patients
Movement Disorders Clinical Practice·2023· 5 citedOpen Access
Adult-onset KMT2B-related dystonia
Brain Communications·2022· 12 citedOpen Access
Datset related to article "AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism"
2022Open Access
Datset related to article "AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism"
Zenodo (CERN European Organization for Nuclear Research)·2022Open Access
dataset related to article "EXPANDING THE GENETIC SPECTRUM OF PRIMARY FAMILIAL BRAIN CALCIFICATION DUE TO SLC2OA2 MUTATIONS: A CASE SERIES"
Zenodo (CERN European Organization for Nuclear Research)·2022Open Access
dataset related to article "EXPANDING THE GENETIC SPECTRUM OF PRIMARY FAMILIAL BRAIN CALCIFICATION DUE TO SLC2OA2 MUTATIONS: A CASE SERIES"
Zenodo (CERN European Organization for Nuclear Research)·2022Open Access
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
Parkinsonism & Related Disorders·2022· 14 cited
Expanding the phenotypic spectrum of <i>BCS1L</i>‐related mitochondrial disease
Annals of Clinical and Translational Neurology·2021· 25 citedOpen Access
Genetics, sex, and gender
Journal of Neuroscience Research·2021· 32 cited
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Frequent Co-authors

Massimo Zeviani(26), Eleonora Lamantea(17), Daniele Ghezzi(16), Barbara Garavaglia(16), Holger Prokisch(10), Graziella Uziel(8), Tobias B. Haack(8), Nardo Nardocci(8), Isabella Moroni(7), Giovanna Zorzi(7), Valeria Tiranti(7), Costanza Lamperti(6), Rosalba Carrozzo(6), Laura Farina(5), Thomas Meitinger(5), Ileana Ferrero(5), Enrico Bertini(5), Rita Horváth(4), Tim M. Strom(4), Enrico Baruffini(4)