Works matching AU Spinazzi, A


Results: 75
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    Healthcare experiences of patients with Down syndrome from primarily Spanish‐speaking households.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2132, doi. 10.1002/ajmg.a.63250
    By:
    • Chung, Jeanhee;
    • Krell, Kavita;
    • Pless, Albert;
    • Michael, Carie;
    • Torres, Amy;
    • Baker, Sandra;
    • Blake, Jasmine M.;
    • Caughman, Kelli;
    • Cullen, Sarah;
    • Gallagher, Maureen;
    • Hoke‐Chandler, Roxanne;
    • Maina, Julius;
    • McLuckie, Diana;
    • O'Neill, Kate;
    • Peña, Angeles;
    • Royal, Dina;
    • Slape, Michelle;
    • Spinazzi, Noemi Alice;
    • Torres, Carlos G.;
    • Skotko, Brian G.
    Publication type:
    Article
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    Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 742, doi. 10.1002/ajmg.a.63069
    By:
    • Krell, Kavita;
    • Pless, Albert;
    • Michael, Carie;
    • Torres, Amy;
    • Chung, Jeanhee;
    • Baker, Sandra;
    • Blake, Jasmine M.;
    • Caughman, Kelli;
    • Cullen, Sarah;
    • Gallagher, Maureen;
    • Hoke‐Chandler, Roxanne;
    • Maina, Julius;
    • McLuckie, Diana;
    • O'Neill, Kate;
    • Peña, Angeles;
    • Royal, Dina;
    • Slape, Michelle;
    • Spinazzi, Noemi Alice;
    • Torres, Carlos G.;
    • Skotko, Brian G.
    Publication type:
    Article
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    Alzheimer's disease CSF biomarkers correlate with early pathology and alterations in neuronal and glial gene expression.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 10, p. 7090, doi. 10.1002/alz.14194
    By:
    • Ropri, Ali S.;
    • Lam, Tiffany G.;
    • Kalia, Vrinda;
    • Buchanan, Heather M.;
    • Bartosch, Anne Marie W.;
    • Youth, Elliot H. H.;
    • Xiao, Harrison;
    • Ross, Sophie K.;
    • Jain, Anu;
    • Chakrabarty, Jayanta K.;
    • Kang, Min Suk;
    • Boyett, Deborah;
    • Spinazzi, Eleonora F.;
    • Iodice, Gail;
    • McGovern, Robert A.;
    • Honig, Lawrence S.;
    • Brown, Lewis M.;
    • Miller, Gary W.;
    • McKhann, Guy M.;
    • Teich, Andrew F.
    Publication type:
    Article
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    Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder.

    Published in:
    Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09503-y
    By:
    • Boyd, Natalie K.;
    • Nguyen, Julia;
    • Khoshnood, Mellad M.;
    • Jiang, Timothy;
    • Nguyen, Lina;
    • Mendez, Lorena;
    • Spinazzi, Noemi A.;
    • Manning, Melanie A.;
    • Rafii, Michael S.;
    • Santoro, Jonathan D.
    Publication type:
    Article
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    Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277
    By:
    • Desbats, Maria Andrea;
    • Vetro, Annalisa;
    • Limongelli, Ivan;
    • Lunardi, Giada;
    • Casarin, Alberto;
    • Doimo, Mara;
    • Spinazzi, Marco;
    • Angelini, Corrado;
    • Cenacchi, Giovanna;
    • Burlina, Alberto;
    • Rodriguez Hernandez, Maria Angeles;
    • Chiandetti, Lino;
    • Clementi, Maurizio;
    • Trevisson, Eva;
    • Navas, Placido;
    • Zuffardi, Orsetta;
    • Salviati, Leonardo
    Publication type:
    Article
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    Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03008-6
    By:
    • Salort-Campana, Emmanuelle;
    • Solé, Guilhem;
    • Magot, Armelle;
    • Tard, Céline;
    • Noury, Jean-Baptiste;
    • Behin, Anthony;
    • De La Cruz, Elisa;
    • Boyer, François;
    • Lefeuvre, Claire;
    • Masingue, Marion;
    • Debergé, Louise;
    • Finet, Armelle;
    • Brison, Mélanie;
    • Spinazzi, Marco;
    • Pegat, Antoine;
    • Sacconi, Sabrina;
    • Malfatti, Edoardo;
    • Choumert, Ariane;
    • Bellance, Rémi;
    • Bedat-Millet, Anne-Laure
    Publication type:
    Article
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    Laryngeal Verrucous Carcinoma.

    Published in:
    2017
    By:
    • Echanique, Kristen A.;
    • Desai, Stuti V.;
    • Marchiano, Emily;
    • Spinazzi, Eleonora F.;
    • Strojan, Primož;
    • Baredes, Soly;
    • Eloy, Jean Anderson
    Publication type:
    journal article
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    Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

    Published in:
    Journal of Neurology, 2024, v. 271, n. 7, p. 4008, doi. 10.1007/s00415-024-12298-0
    By:
    • Fernández-Eulate, Gorka;
    • Alfieri, Girolamo;
    • Spinazzi, Marco;
    • Ackermann-Bonan, Isabelle;
    • Duval, Fanny;
    • Solé, Guilhem;
    • Caillon, Florence;
    • Mercier, Sandra;
    • Pereon, Yann;
    • Magot, Armelle;
    • Pegat, Antoine;
    • Salort-Campana, Emmanuelle;
    • Chabrol, Brigitte;
    • Gorokhova, Svetlana;
    • Krahn, Martin;
    • Biancalana, Valerie;
    • Evangelista, Teresinha;
    • Behin, Anthony;
    • Metay, Corinne;
    • Stojkovic, Tanya
    Publication type:
    Article
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    Myotilin gene duplication causing late‐onset myotilinopathy.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70029
    By:
    • Spinazzi, Marco;
    • Savarese, Marco;
    • Letournel, Franck;
    • Sagath, Lydia;
    • Manero, Florence;
    • Guichet, Agnès;
    • Hoischen, Alexander;
    • Metay, Corinne;
    • Gouju, Julien;
    • Udd, Bjarne
    Publication type:
    Article
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    Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 10, p. 1, doi. 10.1111/ene.16428
    By:
    • Retailleau, Emilie;
    • Lefeuvre, Claire;
    • De Antonio, Marie;
    • Bouhour, Françoise;
    • Tard, Celine;
    • Salort‐Campana, Emmanuelle;
    • Lagrange, Emmeline;
    • Béhin, Anthony;
    • Solé, Guilhem;
    • Noury, Jean‐Baptiste;
    • Sacconi, Sabrina;
    • Magot, Armelle;
    • Pakleza, Aleksandra Nadaj;
    • Orlikowski, David;
    • Beltran, Stéphane;
    • Spinazzi, Marco;
    • Cintas, Pascal;
    • Fournier, Maxime;
    • Bouibede, Fatma;
    • Prigent, Hélène
    Publication type:
    Article
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    Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16292
    By:
    • Tard, Céline;
    • Bouhour, Françoise;
    • Michaud, Maud;
    • Beltran, Stephane;
    • Fournier, Maxime;
    • Demurger, Florence;
    • Lagrange, Emmeline;
    • Nollet, Sylvain;
    • Sacconi, Sabrina;
    • Noury, Jean‐Baptiste;
    • Magot, Armelle;
    • Cintas, Pascal;
    • Renard, Dimitri;
    • Deibener‐Kaminsky, Joëlle;
    • Lefeuvre, Claire;
    • Davion, Jean‐Baptiste;
    • Salort‐Campana, Emmanuelle;
    • Arrassi, Azzeddine;
    • Taouagh, Nadjib;
    • Spinazzi, Marco
    Publication type:
    Article
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    Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 4, p. 1181, doi. 10.1111/ene.15222
    By:
    • Tard, Céline;
    • Salort‐Campana, Emmanuelle;
    • Michaud, Maud;
    • Spinazzi, Marco;
    • Nadaj Pakleza, Aleksandra;
    • Durr, Hélène;
    • Bouhour, Françoise;
    • Lefeuvre, Claire;
    • Thomas, Romain;
    • Arrassi, Azzeddine;
    • Taouagh, Nadjib;
    • Solé, Guilhem;
    • Laforêt, Pascal;
    • P, Laforêt;
    • D, Orlikowski;
    • G, Bassez;
    • D, Germain;
    • JB, Noury;
    • F, Zagnoli;
    • C, Tard
    Publication type:
    Article
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    Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
    By:
    • Fernández‐Eulate, Gorka;
    • Querin, Giorgia;
    • Moore, Ursula;
    • Behin, Anthony;
    • Masingue, Marion;
    • Bassez, Guillaume;
    • Leonard‐Louis, Sarah;
    • Laforêt, Pascal;
    • Maisonobe, Thierry;
    • Merle, Philippe‐Edouard;
    • Spinazzi, Marco;
    • Solé, Guilhem;
    • Kuntzer, Thierry;
    • Bedat‐Millet, Anne‐Laure;
    • Salort‐Campana, Emmanuelle;
    • Attarian, Shahram;
    • Péréon, Yann;
    • Feasson, Leonard;
    • Graveleau, Julie;
    • Nadaj‐Pakleza, Aleksandra
    Publication type:
    Article
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    PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration.

    Published in:
    Journal of Cell Biology, 2023, v. 222, n. 3, p. 1, doi. 10.1083/jcb.202206008
    By:
    • Sassano, Maria Livia;
    • van Vliet, Alexander R.;
    • Vervoort, Ellen;
    • Van Eygen, Sofie;
    • Van den Haute, Chris;
    • Pavie, Benjamin;
    • Roels, Joris;
    • Swinnen, Johannes V.;
    • Spinazzi, Marco;
    • Moens, Leen;
    • Casteels, Kristina;
    • Meyts, Isabelle;
    • Pinton, Paolo;
    • Marchi, Saverio;
    • Rochin, Leila;
    • Giordano, Francesca;
    • Felipe-Abrio, Blanca;
    • Agostinis, Patrizia
    Publication type:
    Article
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