Works by Malandrini, Alessandro

Results: 64
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    A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

    Published in:
    Neurological Sciences, 2022, v. 43, n. 4, p. 2849, doi. 10.1007/s10072-021-05841-8
    By:
    • Lopergolo, Diego;
    • Berti, Gianna;
    • Mari, Francesca;
    • Bertini, Enrico;
    • Rufa, Alessandra;
    • Battisti, Carla;
    • Sicurelli, Francesco;
    • Renieri, Alessandra;
    • Federico, Antonio;
    • Sandhoff, Konrad;
    • Malandrini, Alessandro
    Publication type:
    Article
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    Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.

    Published in:
    Neurological Sciences, 2020, v. 41, n. 12, p. 3653, doi. 10.1007/s10072-020-04422-5
    By:
    • Formichi, Patrizia;
    • Cardone, Nastasia;
    • Taglia, Ilaria;
    • Cardaioli, Elena;
    • Salvatore, Simona;
    • Gerfo, Annalisa Lo;
    • Simoncini, Costanza;
    • Montano, Vincenzo;
    • Siciliano, Gabriele;
    • Mancuso, Michelangelo;
    • Malandrini, Alessandro;
    • Federico, Antonio;
    • Dotti, Maria Teresa
    Publication type:
    Article
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    Imaging of the thymus in myotonic dystrophy type 1.

    Published in:
    2018
    By:
    • Mignarri, Andrea;
    • Gentili, Francesco;
    • Masia, Francesco;
    • Genua, Angelo;
    • Cenciarelli, Silvia;
    • Brunori, Paola;
    • Mazzei, Maria Antonietta;
    • Malandrini, Alessandro;
    • Federico, Antonio;
    • Mazzei, Francesco Giuseppe;
    • Dotti, Maria Teresa
    Publication type:
    journal article
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    Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

    Published in:
    2017
    By:
    • Da Pozzo, Paola;
    • Cardaioli, Elena;
    • Rubegni, Anna;
    • Gallus, Gian;
    • Malandrini, Alessandro;
    • Rufa, Alessandra;
    • Battisti, Carla;
    • Carluccio, Maria;
    • Rocchi, Raffaele;
    • Giannini, Fabio;
    • Bianchi, Amedeo;
    • Mancuso, Michelangelo;
    • Siciliano, Gabriele;
    • Dotti, Maria;
    • Federico, Antonio;
    • Gallus, Gian Nicola;
    • Carluccio, Maria Alessandra;
    • Dotti, Maria Teresa
    Publication type:
    journal article
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    Dilated cardiomyopathy and inclusion body myositis.

    Published in:
    Neurological Sciences, 2012, v. 33, n. 2, p. 367, doi. 10.1007/s10072-011-0766-2
    By:
    • Ballo, Piercarlo;
    • Chiodi, Leandro;
    • Cameli, Matteo;
    • Malandrini, Alessandro;
    • Federico, Antonio;
    • Mondillo, Sergio;
    • Zuppiroli, Alfredo
    Publication type:
    Article
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    CCDC78 : Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

    Published in:
    Cells (2073-4409), 2024, v. 13, n. 17, p. 1504, doi. 10.3390/cells13171504
    By:
    • Lopergolo, Diego;
    • Gallus, Gian Nicola;
    • Pieraccini, Giuseppe;
    • Boscaro, Francesca;
    • Berti, Gianna;
    • Serni, Giovanni;
    • Volpi, Nila;
    • Formichi, Patrizia;
    • Bianchi, Silvia;
    • Cassandrini, Denise;
    • Sorrentino, Vincenzo;
    • Rossi, Daniela;
    • Santorelli, Filippo Maria;
    • De Stefano, Nicola;
    • Malandrini, Alessandro
    Publication type:
    Article
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    Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

    Published in:
    Cells (2073-4409), 2024, v. 13, n. 4, p. 329, doi. 10.3390/cells13040329
    By:
    • Aguti, Sara;
    • Gallus, Gian Nicola;
    • Bianchi, Silvia;
    • Salvatore, Simona;
    • Rubegni, Anna;
    • Berti, Gianna;
    • Formichi, Patrizia;
    • De Stefano, Nicola;
    • Malandrini, Alessandro;
    • Lopergolo, Diego
    Publication type:
    Article
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    Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02776-5
    By:
    • Fortunato, Fernanda;
    • Bianchi, Francesca;
    • Ricci, Giulia;
    • Torri, Francesca;
    • Gualandi, Francesca;
    • Neri, Marcella;
    • Farnè, Marianna;
    • Giannini, Fabio;
    • Malandrini, Alessandro;
    • Volpi, Nila;
    • Lopergolo, Diego;
    • Silani, Vincenzo;
    • Ticozzi, Nicola;
    • Verde, Federico;
    • Pareyson, Davide;
    • Fenu, Silvia;
    • Bonanno, Silvia;
    • Nigro, Vincenzo;
    • Peduto, Cristina;
    • D'Ambrosio, Paola
    Publication type:
    Article
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    A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

    Published in:
    Nature Genetics, 2001, v. 28, n. 2, p. 119, doi. 10.1038/88821
    By:
    • Rampoldi, Luca;
    • Dobson-Stone, Carol;
    • Rubio, Justin P.;
    • Danek, Adrian;
    • Chalmers, Richard M.;
    • Wood, Nicholas W.;
    • Verellen, Christine;
    • Ferrer, Xavier;
    • Malandrini, Alessandro;
    • Fabrizi, Gian M.;
    • Brown, Robert;
    • Vance, Jeffery;
    • Pericak-Vance, Margaret;
    • Rudolf, Gabrielle;
    • Carrè, Sophie;
    • Alonso, Elisa;
    • Manfredi, Michela;
    • Németh, Andrea H.;
    • Monaco, Anthony P.
    Publication type:
    Article
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    Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study.

    Published in:
    European Neurology, 2000, v. 43, n. 2, p. 88, doi. 10.1159/000008141
    By:
    • Palmeri, Silvia;
    • Villanova, Marcello;
    • Malandrini, Alessandro;
    • van Diggelen, Otto P.;
    • Huijmans, Jean G.M.;
    • Ceuterick, Chantal;
    • Rufa, Alessandra;
    • DeFalco, Danilo;
    • Ciacci, Giuseppe;
    • Martin, Jean J.;
    • Guazzi, Giancarlo
    Publication type:
    Article
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    Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.

    Published in:
    Muscle & Nerve, 2021, v. 64, n. 5, p. 567, doi. 10.1002/mus.27391
    By:
    • Ticci, Chiara;
    • Cassandrini, Denise;
    • Rubegni, Anna;
    • Riva, Beatrice;
    • Vattemi, Gaetano;
    • Matà, Sabrina;
    • Ricci, Giulia;
    • Baldacci, Jacopo;
    • Guglielmi, Valeria;
    • Di Muzio, Antonio;
    • Malandrini, Alessandro;
    • Tonin, Paola;
    • Siciliano, Gabriele;
    • Federico, Antonio;
    • Genazzani, Armando A.;
    • Santorelli, Filippo M.;
    • Merlini, Luciano
    Publication type:
    Article
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    A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
    By:
    • Marinella, Gemma;
    • Astrea, Guja;
    • Buchignani, Bianca;
    • Cassandrini, Denise;
    • Doccini, Stefano;
    • Filosto, Massimiliano;
    • Galatolo, Daniele;
    • Gallone, Salvatore;
    • Giannini, Fabio;
    • Lopergolo, Diego;
    • Maioli, Maria Antonietta;
    • Magri, Francesca;
    • Malandrini, Alessandro;
    • Mandich, Paola;
    • Mari, Francesco;
    • Massa, Roberto;
    • Mata, Sabrina;
    • Melani, Federico;
    • Moggio, Maurizio;
    • Mongini, Tiziana E.
    Publication type:
    Article
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    NGS in Hereditary Ataxia: When Rare Becomes Frequent.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8490, doi. 10.3390/ijms22168490
    By:
    • Galatolo, Daniele;
    • De Michele, Giovanna;
    • Silvestri, Gabriella;
    • Leuzzi, Vincenzo;
    • Casali, Carlo;
    • Musumeci, Olimpia;
    • Antenora, Antonella;
    • Astrea, Guja;
    • Barghigiani, Melissa;
    • Battini, Roberta;
    • Battisti, Carla;
    • Caputi, Caterina;
    • Cioffi, Ettore;
    • De Michele, Giuseppe;
    • Dotti, Maria Teresa;
    • Fico, Tommasina;
    • Fiorillo, Chiara;
    • Galosi, Serena;
    • Lieto, Maria;
    • Malandrini, Alessandro
    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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    McLeod neuroacanthocytosis: genotype and phenotype.

    Published in:
    2001
    By:
    • Danek, Adrian;
    • Rubio, Justin P.;
    • Rampoldi, Luca;
    • Ho, Mengfatt;
    • Dobson-Stone, Carol;
    • Tison, François;
    • Symmans, William A.;
    • Oechsner, Matthias;
    • Kalckreuth, Wolfgang;
    • Watt, Julie M.;
    • Corbett, Alastair J.;
    • Hamdalla, Hisham H. M.;
    • Marshall, Andrew G.;
    • Sutton, Ian;
    • Dotti, Maria Teresa;
    • Malandrini, Alessandro;
    • Walker, Ruth H.;
    • Daniels, Geoff;
    • Monaco, Anthony P.;
    • Danek, A
    Publication type:
    journal article
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    Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.

    Published in:
    1999
    By:
    • Lieberman, Andrew P.;
    • Trojanowski, John Q.;
    • Leonard, Debra G. B.;
    • Chen, Ke-Lian;
    • Barnett, Jeffrey L.;
    • Leverenz, James B.;
    • Bird, Thomas D.;
    • Robitaille, Yves;
    • Malandrini, Alessandro;
    • Fischbeck, Kenneth H.;
    • Lieberman, A P;
    • Trojanowski, J Q;
    • Leonard, D G;
    • Chen, K L;
    • Barnett, J L;
    • Leverenz, J B;
    • Bird, T D;
    • Robitaille, Y;
    • Malandrini, A;
    • Fischbeck, K H
    Publication type:
    journal article
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    Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

    Published in:
    Neurogenetics, 2006, v. 7, n. 3, p. 149, doi. 10.1007/s10048-006-0044-2
    By:
    • Stevanin, Giovanni;
    • Montagna, Giorgia;
    • Azzedine, Hamid;
    • Valente, Enza Maria;
    • Durr, Alexandra;
    • Scarano, Valentina;
    • Bouslam, Naima;
    • Cassandrini, Denise;
    • Denora, Paola S.;
    • Criscuolo, Chiara;
    • Belarbi, Soraya;
    • Orlacchio, Antonio;
    • Jonveaux, Philippe;
    • Silvestri, Gabriella;
    • Ouvard Hernandez, Anne Marie;
    • De Michele, Giuseppe;
    • Tazir, Meriem;
    • Mariotti, Caterina;
    • Brockmann, Knut;
    • Malandrini, Alessandro
    Publication type:
    Article
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    Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. E500, doi. 10.1002/humu.20945
    By:
    • Denora, Paola S.;
    • Schlesinger, David;
    • Casali, Carlo;
    • Kok, Fernando;
    • Tessa, Alessandra;
    • Boukhris, Amir;
    • Azzedine, Hamid;
    • Dotti, Maria Teresa;
    • Bruno, Claudio;
    • Truchetto, Jeremy;
    • Biancheri, Roberta;
    • Fedirko, Estelle;
    • Di Rocco, Maja;
    • Bueno, Clarissa;
    • Malandrini, Alessandro;
    • Battini, Roberta;
    • Sickl, Elisabeth;
    • de Leva, Maria Fulvia;
    • Boespflug-Tanguy, Odile;
    • Silvestri, Gabriella
    Publication type:
    Article
    40

    Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

    Published in:
    Human Mutation, 2005, v. 25, n. 5, p. 506, doi. 10.1002/humu.9340
    By:
    • Patrono, Clarice;
    • Scarano, Valentina;
    • Cricchi, Federica;
    • Melone, Mariarosa A. B.;
    • Chiriaco, Maria;
    • Napolitano, Alessandro;
    • Malandrini, Alessandro;
    • De Michele, Giuseppe;
    • Petrozzi, Lucia;
    • Giraldi, Carlo;
    • Santoro, Lucio;
    • Servidei, Serena;
    • Casali, Carlo;
    • Filla, Alessandro;
    • Santorelli, Filippo M.
    Publication type:
    Article
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    Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

    Published in:
    Annals of Neurology, 2010, v. 68, n. 5, p. 611, doi. 10.1002/ana.22122
    By:
    • Kruer, Michael C.;
    • Paisán-Ruiz, Coro;
    • Boddaert, Nathalie;
    • Yoon, Moon Y.;
    • Hama, Hiroko;
    • Gregory, Allison;
    • Malandrini, Alessandro;
    • Woltjer, Randall L.;
    • Munnich, Arnold;
    • Gobin, Stephanie;
    • Polster, Brenda J.;
    • Palmeri, Silvia;
    • Edvardson, Simon;
    • Hardy, John;
    • Houlden, Henry;
    • Hayflick, Susan J.
    Publication type:
    Article
    50

    Peripheral neuropathy in CADASIL.

    Published in:
    Journal of Neurology, 2005, v. 252, n. 10, p. 1206, doi. 10.1007/s00415-005-0837-5
    By:
    • Sicurelli, Francesco;
    • Dotti, Maria Teresa;
    • De Stefano, Nicola;
    • Malandrini, Alessandro;
    • Mondelli, Mauro;
    • Bianchi, Silvia;
    • Federico, Antonio
    Publication type:
    Article