Works matching AU Tessa, Alessandra


Results: 92
    1

    Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.

    Published in:
    European Radiology, 2022, v. 32, n. 12, p. 8058, doi. 10.1007/s00330-022-08865-6
    By:
    • Cosottini, Mirco;
    • Donatelli, Graziella;
    • Ricca, Ivana;
    • Bianchi, Francesca;
    • Frosini, Daniela;
    • Montano, Vincenzo;
    • Migaleddu, Gianmichele;
    • Del Prete, Eleonora;
    • Tessa, Alessandra;
    • Cecchi, Paolo;
    • D'Amelio, Claudio;
    • Siciliano, Gabriele;
    • Mancuso, Michelangelo;
    • Santorelli, Filippo Maria
    Publication type:
    Article
    2

    Primary Coenzyme Q10 Deficiency-Related Ataxias.

    Published in:
    Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391
    By:
    • Lopriore, Piervito;
    • Vista, Marco;
    • Tessa, Alessandra;
    • Giuntini, Martina;
    • Caldarazzo Ienco, Elena;
    • Mancuso, Michelangelo;
    • Siciliano, Gabriele;
    • Santorelli, Filippo Maria;
    • Orsucci, Daniele
    Publication type:
    Article
    3

    Pseudodominance in RFC1-Spectrum Disorder.

    Published in:
    Cerebellum, 2024, v. 23, n. 6, p. 2622, doi. 10.1007/s12311-024-01735-5
    By:
    • Falcone, Grazia Maria Igea;
    • Tessa, Alessandra;
    • Arena, Ignazio Giuseppe;
    • Barghigiani, Melissa;
    • Migliorato, Alba;
    • Incensi, Alex;
    • Rodolico, Carmelo;
    • Donadio, Vincenzo;
    • Santorelli, Filippo Maria;
    • Musumeci, Olimpia
    Publication type:
    Article
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    Infantile Childhood Onset of Spinocerebellar Ataxia Type 2.

    Published in:
    Cerebellum, 2012, v. 11, n. 2, p. 526, doi. 10.1007/s12311-011-0315-9
    By:
    • Di Fabio, Roberto;
    • Santorelli, Filippo;
    • Bertini, Enrico;
    • Balestri, Martina;
    • Cursi, Laura;
    • Tessa, Alessandra;
    • Pierelli, Francesco;
    • Casali, Carlo
    Publication type:
    Article
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    Sister chromatid exchange and micronucleus frequency in human lymphocytes of 1,650 subjects in an Italian population: I. Contribution of methodological factors.

    Published in:
    Environmental & Molecular Mutagenesis, 1998, v. 31, n. 3, p. 218, doi. 10.1002/(SICI)1098-2280(1998)31:3<218::AID-EM3>3.0.CO;2-G
    By:
    • Barale, Roberto;
    • Marrazzini, Antonella;
    • Bacci, Elena;
    • Di Sibio, Alessandra;
    • Tessa, Alessandra;
    • Cocchi, Leonardo;
    • Scarcelli, Vittoria;
    • Lubrano, Valter;
    • Vassalle, Cristina;
    • Landi, Stefano
    Publication type:
    Article
    10

    De novo FTL mutation: A clinical, neuroimaging, and molecular study.

    Published in:
    Movement Disorders, 2013, v. 28, n. 2, p. 252, doi. 10.1002/mds.25275
    By:
    • Storti, Eugenia;
    • Cortese, Francesca;
    • Fabio, Roberto;
    • Fiorillo, Chiara;
    • Pierallini, Alberto;
    • Tessa, Alessandra;
    • Valleriani, Annamaria;
    • Pierelli, Francesco;
    • Santorelli, Filippo M.;
    • Casali, Carlo
    Publication type:
    Article
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    POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.

    Published in:
    Neurological Sciences, 2022, v. 43, n. 2, p. 1071, doi. 10.1007/s10072-021-05462-1
    By:
    • Di Donato, Ilaria;
    • Gallo, Antonio;
    • Ricca, Ivana;
    • Fini, Nicola;
    • Silvestri, Gabriella;
    • Gurrieri, Fiorella;
    • Cirillo, Mario;
    • Cerase, Alfonso;
    • Natale, Gemma;
    • Matrone, Federica;
    • Riso, Vittorio;
    • Melone, Mariarosa Anna Beatrice;
    • Tessa, Alessandra;
    • De Michele, Giovanna;
    • Federico, Antonio;
    • Filla, Alessandro;
    • Dotti, Maria Teresa;
    • Santorelli, Filippo Maria
    Publication type:
    Article
    16

    Spinocerebellar ataxia type 48: last but not least.

    Published in:
    2020
    By:
    • De Michele, Giovanna;
    • Galatolo, Daniele;
    • Barghigiani, Melissa;
    • Dello Iacovo, Diletta;
    • Trovato, Rosanna;
    • Tessa, Alessandra;
    • Salvatore, Elena;
    • Filla, Alessandro;
    • De Michele, Giuseppe;
    • Santorelli, Filippo M.
    Publication type:
    journal article
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    Cerebellum and neuropsychiatric disorders: insights from ARSACS.

    Published in:
    Neurological Sciences, 2014, v. 35, n. 1, p. 95, doi. 10.1007/s10072-013-1592-5
    By:
    • Mignarri, Andrea;
    • Tessa, Alessandra;
    • Carluccio, Maria;
    • Rufa, Alessandra;
    • Storti, Eugenia;
    • Bonelli, Giovanni;
    • Marcotulli, Christian;
    • Santorelli, Filippo;
    • Leonardi, Luca;
    • Casali, Carlo;
    • Federico, Antonio;
    • Dotti, Maria
    Publication type:
    Article
    21
    22

    MtDNA-related idiopathic dilated cardiomyopathy.

    Published in:
    European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380
    By:
    • Tessa, Alessandra;
    • Vilarinho, Laura;
    • Casali, Carlo;
    • Santorelli, Filippo M
    Publication type:
    Article
    23

    Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

    Published in:
    Nature Genetics, 2007, v. 39, n. 3, p. 366, doi. 10.1038/ng1980
    By:
    • Stevanin, Giovanni;
    • Santorelli, Filippo M.;
    • Azzedine, Hamid;
    • Coutinho, Paula;
    • Chomilier, Jacques;
    • Denora, Paola S.;
    • Martin, Elodie;
    • Ouvrard-Hernandez, Anne-Marie;
    • Tessa, Alessandra;
    • Bouslam, Naïma;
    • Lossos, Alexander;
    • Charles, Perrine;
    • Loureiro, José L.;
    • Elleuch, Nizar;
    • Confavreux, Christian;
    • Cruz, Vítor T.;
    • Ruberg, Merle;
    • Leguern, Eric;
    • Grid, Djamel;
    • Tazir, Meriem
    Publication type:
    Article
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    Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

    Published in:
    Genes, 2021, v. 12, n. 3, p. 344, doi. 10.3390/genes12030344
    By:
    • Vaisfeld, Alessandro;
    • Bruno, Giorgia;
    • Petracca, Martina;
    • Bentivoglio, Anna Rita;
    • Servidei, Serenella;
    • Vita, Maria Gabriella;
    • Bove, Francesco;
    • Straccia, Giulia;
    • Dato, Clemente;
    • Di Iorio, Giuseppe;
    • Sampaolo, Simone;
    • Peluso, Silvio;
    • De Rosa, Anna;
    • De Michele, Giuseppe;
    • Barghigiani, Melissa;
    • Galatolo, Daniele;
    • Tessa, Alessandra;
    • Santorelli, Filippo;
    • Chiurazzi, Pietro;
    • Melone, Mariarosa Anna Beatrice
    Publication type:
    Article
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    Converging Role for REEP1/SPG31 in Oxidative Stress.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3527, doi. 10.3390/ijms24043527
    By:
    • Naef, Valentina;
    • Meschini, Maria C.;
    • Tessa, Alessandra;
    • Morani, Federica;
    • Corsinovi, Debora;
    • Ogi, Asahi;
    • Marchese, Maria;
    • Ori, Michela;
    • Santorelli, Filippo M.;
    • Doccini, Stefano
    Publication type:
    Article
    34

    Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

    Published in:
    2023
    By:
    • Della Vecchia, Stefania;
    • Tessa, Alessandra;
    • Dosi, Claudia;
    • Baldacci, Jacopo;
    • Pasquariello, Rosa;
    • Antenora, Antonella;
    • Astrea, Guja;
    • Bassi, Maria Teresa;
    • Battini, Roberta;
    • Casali, Carlo;
    • Ciof, Ettore;
    • Conti, Greta;
    • De Michele, Giovanna;
    • Ferrari, Anna Rita;
    • Filla, Alessandro;
    • Fiorillo, Chiara;
    • Fusco, Carlo;
    • Gallone, Salvatore;
    • Germiniasi, Chiara;
    • Guerrini, Renzo
    Publication type:
    Correction Notice
    35
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    Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 3, p. 1476, doi. 10.1007/s00415-021-10712-5
    By:
    • De Michele, Giovanna;
    • Galatolo, Daniele;
    • Galosi, Serena;
    • Mignarri, Andrea;
    • Silvestri, Gabriella;
    • Casali, Carlo;
    • Leuzzi, Vincenzo;
    • Ricca, Ivana;
    • Barghigiani, Melissa;
    • Tessa, Alessandra;
    • Cioffi, Ettore;
    • Caputi, Caterina;
    • Riso, Vittorio;
    • Dotti, Maria Teresa;
    • Saccà, Francesco;
    • De Michele, Giuseppe;
    • Cocozza, Sirio;
    • Filla, Alessandro;
    • Santorelli, Filippo M.
    Publication type:
    Article
    37

    Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

    Published in:
    2022
    By:
    • Della Vecchia, Stefania;
    • Tessa, Alessandra;
    • Dosi, Claudia;
    • Baldacci, Jacopo;
    • Pasquariello, Rosa;
    • Antenora, Antonella;
    • Astrea, Guja;
    • Bassi, Maria Teresa;
    • Battini, Roberta;
    • Casali, Carlo;
    • Cioffi, Ettore;
    • Conti, Greta;
    • De Michele, Giovanna;
    • Ferrari, Anna Rita;
    • Filla, Alessandro;
    • Fiorillo, Chiara;
    • Fusco, Carlo;
    • Gallone, Salvatore;
    • Germiniasi, Chiara;
    • Guerrini, Renzo
    Publication type:
    Correction Notice
    38

    Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

    Published in:
    2022
    By:
    • Vecchia, Stefania Della;
    • Tessa, Alessandra;
    • Dosi, Claudia;
    • Baldacci, Jacopo;
    • Pasquariello, Rosa;
    • Antenora, Antonella;
    • Astrea, Guja;
    • Bassi, Maria Teresa;
    • Battini, Roberta;
    • Casali, Carlo;
    • Cioffi, Ettore;
    • Conti, Greta;
    • De Michele, Giovanna;
    • Ferrari, Anna Rita;
    • Filla, Alessandro;
    • Fiorillo, Chiara;
    • Fusco, Carlo;
    • Gallone, Salvatore;
    • Germiniasi, Chiara;
    • Guerrini, Renzo
    Publication type:
    Literature Review
    39

    New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblasts.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 9, p. 3381, doi. 10.1007/s00415-021-10509-6
    By:
    • Mero, Serena;
    • Salviati, Leonardo;
    • Leuzzi, Vincenzo;
    • Rubegni, Anna;
    • Calderan, Cristina;
    • Nardecchia, Francesca;
    • Galatolo, Daniele;
    • Desbats, Maria Andrea;
    • Naef, Valentina;
    • Gemignani, Federica;
    • Novelli, Maria;
    • Tessa, Alessandra;
    • Battini, Roberta;
    • Santorelli, Filippo M.;
    • Marchese, Maria
    Publication type:
    Article
    40

    Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 11, p. 2657, doi. 10.1007/s00415-019-09466-y
    By:
    • Nicita, Francesco;
    • Stregapede, Fabrizia;
    • Tessa, Alessandra;
    • Bassi, Maria Teresa;
    • Jezela-Stanek, Aleksandra;
    • Primiano, Guido;
    • Pizzuti, Antonio;
    • Barghigiani, Melissa;
    • Nardella, Marta;
    • Zanni, Ginevra;
    • Servidei, Serenella;
    • Astrea, Guja;
    • Panzeri, Elena;
    • Maghini, Cristina;
    • Losito, Luciana;
    • Ploski, Rafal;
    • Gasperowicz, Piotr;
    • Santorelli, Filippo Maria;
    • Bertini, Enrico;
    • Travaglini, Lorena
    Publication type:
    Article
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    Treatment of SPG5 with cholesterol-lowering drugs.

    Published in:
    2015
    By:
    • Mignarri, Andrea;
    • Malandrini, Alessandro;
    • Puppo, Marina;
    • Magni, Alessandro;
    • Monti, Lucia;
    • Ginanneschi, Federica;
    • Tessa, Alessandra;
    • Santorelli, Filippo;
    • Federico, Antonio;
    • Dotti, Maria
    Publication type:
    Letter
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    Acute optic neuropathy associated with a novel MFN2 mutation.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 7, p. 1678, doi. 10.1007/s00415-015-7756-x
    By:
    • Leonardi, Luca;
    • Marcotulli, Christian;
    • Storti, Eugenia;
    • Tessa, Alessandra;
    • Serrao, Mariano;
    • Parisi, Vincenzo;
    • Santorelli, F.;
    • Pierelli, Francesco;
    • Casali, Carlo
    Publication type:
    Article
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