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Andrea Mignarri
Researcher at University of Siena
Publications - 67
Citations - 1191
Andrea Mignarri is an academic researcher from University of Siena. The author has contributed to research in topics: Cerebrotendinous Xanthomatosis & Medicine. The author has an hindex of 16, co-authored 61 publications receiving 944 citations.
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Journal ArticleDOI
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Marialuisa Quadri,Antonio Federico,Tianna Zhao,Guido J. Breedveld,Carla Battisti,Cathérine C.S. Delnooz,Lies Anne Severijnen,Lara Di Toro Mammarella,Andrea Mignarri,Lucia Monti,Antioco Sanna,Peng Lu,Francesca Punzo,Francesca Punzo,Giovanni Cossu,Rob Willemsen,Fabrizio Rasi,Ben A. Oostra,Bart P.C. van de Warrenburg,Vincenzo Bonifati +19 more
TL;DR: The SLC30A10 mutations cause a treatable recessive disease with pleomorphic phenotype with broad implications for understanding of the manganese biology and pathophysiology in multiple human organs and compelling evidence that SLC 30A10 plays a pivotal role inManganese transport is provided.
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A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
TL;DR: The suspicion index provides a simple and inexpensive diagnostic tool allowing diagnosis and treatment of CTX patients before neurological disability occurs, and is effective in identifying and treating patients at an initial stage of the disease.
Journal ArticleDOI
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore,Alessandra Tessa,Carlo Casali,Maria Teresa Dotti,Alessandro Filla,Gabriella Silvestri,Antonella Antenora,Guja Astrea,Melissa Barghigiani,Roberta Battini,Carla Battisti,Irene Bruno,Cristina Cereda,Clemente Dato,Giuseppe Di Iorio,Vincenzo Donadio,Monica Felicori,Nicola Fini,Chiara Fiorillo,Salvatore Gallone,Federica Gemignani,Gian Luigi Gigli,Claudio Graziano,Renzo Guerrini,Fiorella Gurrieri,Ariana Kariminejad,Maria Lieto,Charles Marques Lourenḉo,Alessandro Malandrini,Paola Mandich,Christian Marcotulli,Francesco Mari,Luca Massacesi,Maria A B Melone,Andrea Mignarri,Roberta Milone,Olimpia Musumeci,Elena Pegoraro,Alessia Perna,Antonio Petrucci,Antonella Pini,Francesca Pochiero,Maria Roser Pons,Ivana Ricca,Salvatore Rossi,Marco Seri,Franco Stanzial,Francesca Tinelli,Antonio Toscano,Mariarosaria Valente,Antonio Federico,Anna Rubegni,Filippo M. Santorelli +52 more
TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.
Journal ArticleDOI
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
Andrea Mignarri,Alessandro Magni,Marina Del Puppo,Gian Nicola Gallus,Ingemar Björkhem,Antonio Federico,Maria Teresa Dotti +6 more
TL;DR: This study aimed at clarifying cholesterol metabolism abnormalities and their response to CDCA treatment, in order to identify reliable diagnostic and prognostic markers and understand if differences exist between stable patients and those with neurological progression.
Journal ArticleDOI
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
Keivan Kaveh Moghadam,Fabio Pizza,Fabio Pizza,Chiara La Morgia,Chiara La Morgia,Christian Franceschini,Caterina Tonon,Raffaele Lodi,Piero Barboni,Marco Seri,Simona Ferrari,Rocco Liguori,Rocco Liguori,Vincenzo Donadio,Piero Parchi,Piero Parchi,Ferdinando Cornelio,Domenico Inzitari,Andrea Mignarri,G. Capocchi,Maria Teresa Dotti,Juliane Winkelmann,Juliane Winkelmann,Ling Lin,Emmanuel Mignot,Valerio Carelli,Valerio Carelli,Giuseppe Plazzi,Giuseppe Plazzi +28 more
TL;DR: Phenotypic characterization pinpoints that ADCA-DN and HSAN IE represent two discrete clinical entities belonging to the same disease spectrum, with variable degree of overlap.