Publications by authors named "Patrizia Spadafora"

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Genetic variability in ADAM17/TACE is associated with sporadic Alzheimer's disease risk, neuropsychiatric symptoms and cognitive performance on the Rey Auditory Verbal Learning and Clock Drawing Tests.
Francesco Bruno, Mirella A Aceto, Ersilia Paparazzo, Domenico Arcuri, Francesca Vozzo, Patrizia Spadafora

PLoS One· May 2025

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Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer's Disease.
Annamaria Cerantonio, Beatrice Maria Greco, Luigi Citrigno, Selene De Benedittis, Antonio Qualtieri, Patrizia Spadafora

Genes (Basel)· May 2025

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Sex and APOE genotype modulate neuropsychological profile and depression in temporal lobe epilepsy.
Francesco Bruno, Patrizia Spadafora, Ida Veltri, Mario L Cuconati, Francesca Condino

Front Neurosci· January 2025

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Molecular Study of the Fukutin-Related Protein () Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
Antonio Qualtieri, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno, Gemma Di Palma, Patrizia Spadafora

Int J Mol Sci· September 2024

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The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions.
Annamaria Cerantonio, Luigi Citrigno, Beatrice Maria Greco, Selene De Benedittis, Giuseppe Passarino, Patrizia Spadafora

Int J Mol Sci· May 2024

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Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies.
Luigi Citrigno, Antonio Qualtieri, Annamaria Cerantonio, Selene De Benedittis, Olivier Gallo, Patrizia Spadafora

J Neurol Sci· February 2024

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MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh.
Selene De Benedittis, Patrizia Spadafora, Marco Gaspari, Gabriele Qualtieri, Olivier Gallo

Clin Chem Lab Med· November 2023

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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo

Int J Mol Sci· August 2022

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Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Elisabetta Ferraroli, Marco Perulli, Chiara Veredice, Ilaria Contaldo, Michela Quintiliani, Patrizia Spadafora

Pediatr Neurol· July 2022

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LC-MALDI-TOF ISD MS analysis is an effective, simple and rapid method of investigation for histones characterization: Application to EBV lymphoblastoid cell lines.
Selene De Benedittis, Marco Gaspari, Angela Magariello, Patrizia Spadafora, Luigi Citrigno

J Mass Spectrom· February 2021

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The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.
Luigi Citrigno, Maria Muglia, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti

Int J Mol Sci· August 2020

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: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.
Valentina La Cognata, Giovanna Morello, Giulia Gentile, Francesca Cavalcanti, Rita Cittadella, Patrizia Spadafora

Curr Genomics· September 2018

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Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.
M Liguori, G Tagarelli, N Romeo, A Bagalà, Patrizia Spadafora

Neurol Sci· November 2016

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Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.
Sara Gasparini, Antonio Qualtieri, Edoardo Ferlazzo, Vittoria Cianci, Alessandra Patitucci, Patrizia Spadafora

Neurol Sci· March 2016

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Proteomic profiling in multiple sclerosis clinical courses reveals potential biomarkers of neurodegeneration.
Maria Liguori, Antonio Qualtieri, Carla Tortorella, Vita Direnzo, Angelo Bagalà, Patrizia Spadafora

PLoS One· April 2015

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CAV3 T78M mutation as polymorphic variant in South Italy.
Patrizia Spadafora, Maria Liguori, Virginia Andreoli, Aldo Quattrone, Antonio Gambardella

Neuromuscul Disord· July 2012

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Presenilin enhancer-2 gene: identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease.
Virginia Andreoli, Francesca Trecroci, Antonella La Russa, Rita Cittadella, Maria Liguori, Patrizia Spadafora

Alzheimers Dement· November 2011

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A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.
Maria Liguori, Antonella La Russa, Ida Manna, Virginia Andreoli, Manuela Caracciolo, Patrizia Spadafora

J Neurol· January 2008

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Fas antigen and sporadic Alzheimer's disease in Southern Italy: evaluation of two polymorphisms in the TNFRSF6 gene.
Virginia Andreoli, Giuseppe Nicoletti, Nelide Romeo, Francesca Condino, Antonella La Russa, Patrizia Spadafora

Neurochem Res· September 2007

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Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
Paola Valentino, Grazia Annesi, Innocenza C Cirò Candiano, Ferdinanda Annesi, Donatella Civitelli, Patrizia Spadafora

Mov Disord· February 2006

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Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study.
Mario Zappia, Grazia Annesi, Giuseppe Nicoletti, Gennarina Arabia, Ferdinanda Annesi, Patrizia Spadafora

Arch Neurol· April 2005

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FRAXE intermediate alleles are associated with Parkinson's disease.
Grazia Annesi, Giuseppe Nicoletti, Patrizia Tarantino, Nunzio Cutuli, Ferdinanda Annesi, Patrizia Spadafora

Neurosci Lett· September 2004

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A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.
Grazia Annesi, Vito Sofia, Antonio Gambardella, Innocenza C Cirò Candiano, Patrizia Spadafora

Epilepsia· March 2004

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Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.
Mario Zappia, Ida Manna, Paolo Serra, Rita Cittadella, Virginia Andreoli, Patrizia Spadafora

Arch Neurol· March 2004

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Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
Grazia Annesi, Antonio Gambardella, Sara Carrideo, Gemma Incorpora, Angelo Labate, Patrizia Spadafora

Epilepsia· September 2003

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