Found: 7

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  • Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 1, p. 122, doi. 10.1002/ana.26366
    By:
    • Barbier, Mathieu;
    • Bahlo, Melanie;
    • Pennisi, Alessandra;
    • Jacoupy, Maxime;
    • Tankard, Rick M.;
    • Ewenczyk, Claire;
    • Davies, Kayli C.;
    • Lino‐Coulon, Patricia;
    • Colace, Claire;
    • Rafehi, Haloom;
    • Auger, Nicolas;
    • Ansell, Brendan R. E.;
    • van der Stelt, Ivo;
    • Howell, Katherine B.;
    • Coutelier, Marie;
    • Amor, David J.;
    • Mundwiller, Emeline;
    • Guillot‐Noël, Lena;
    • Storey, Elsdon;
    • Gardner, R. J. McKinlay
    Publication type:
    Article

  • Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
    By:
    • Hikmat, Omar;
    • Isohanni, Pirjo;
    • Keshavan, Nandaki;
    • Ferla, Matteo P.;
    • Fassone, Elisa;
    • Abbott, Mary‐Alice;
    • Bellusci, Marcello;
    • Darin, Niklas;
    • Dimmock, David;
    • Ghezzi, Daniele;
    • Houlden, Henry;
    • Invernizzi, Federica;
    • Kamarus Jaman, Nazreen B.;
    • Kurian, Manju A.;
    • Morava, Eva;
    • Naess, Karin;
    • Ortigoza‐Escobar, Juan Darío;
    • Parikh, Sumit;
    • Pennisi, Alessandra;
    • Barcia, Giulia
    Publication type:
    Article

  • Primary mitochondrial disorders and mimics: Insights from a large French cohort.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062
    By:
    • Rouzier, Cécile;
    • Pion, Emmanuelle;
    • Chaussenot, Annabelle;
    • Bris, Céline;
    • Ait‐El‐Mkadem Saadi, Samira;
    • Desquiret‐Dumas, Valérie;
    • Gueguen, Naïg;
    • Fragaki, Konstantina;
    • Amati‐Bonneau, Patrizia;
    • Barcia, Giulia;
    • Gaignard, Pauline;
    • Steffann, Julie;
    • Pennisi, Alessandra;
    • Bonnefont, Jean‐Paul;
    • Lebigot, Elise;
    • Bannwarth, Sylvie;
    • Francou, Bruno;
    • Rucheton, Benoit;
    • Sternberg, Damien;
    • Martin‐Negrier, Marie‐Laure
    Publication type:
    Article

  • Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 937, doi. 10.1002/jimd.12525
    By:
    • Marelli, Cecilia;
    • Fouilhoux, Alain;
    • Benoist, Jean‐Francois;
    • De Lonlay, Pascale;
    • Guffon‐Fouilhoux, Nathalie;
    • Brassier, Anais;
    • Cano, Aline;
    • Chabrol, Brigitte;
    • Pennisi, Alessandra;
    • Schiff, Manuel;
    • Acquaviva, Cecile;
    • Murphy, Elaine;
    • Servais, Aude;
    • Lachmann, Robin
    Publication type:
    Article

  • Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203
    By:
    • Pennisi, Alessandra;
    • Maranda, Bruno;
    • Benoist, Jean‐François;
    • Baudouin, Véronique;
    • Rigal, Odile;
    • Pichard, Samia;
    • Santer, René;
    • Romana Lepri, Francesca;
    • Novelli, Antonio;
    • Ogier de Baulny, Hélène;
    • Dionisi‐Vici, Carlo;
    • Schiff, Manuel
    Publication type:
    Article

  • Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 6, p. 705, doi. 10.1111/dmcn.14814
    By:
    • Loiselet, Klervie;
    • Ruzzenente, Benedetta;
    • Roux, Charles‐Joris;
    • Barcia, Giulia;
    • Pennisi, Alessandra;
    • Desguerre, Isabelle;
    • Rötig, Agnès;
    • Munnich, Arnold;
    • Boddaert, Nathalie;
    • Levy, Raphaël;
    • Dangouloff‐Ros, Volodia;
    • Grévent, David;
    • De Lonlay, Pascale
    Publication type:
    Article

  • Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

    Published in:
    Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
    By:
    • Torraco, Alessandra;
    • Nasca, Alessia;
    • Verrigni, Daniela;
    • Pennisi, Alessandra;
    • Zaki, Maha S.;
    • Olivieri, Giorgia;
    • Assouline, Zahra;
    • Martinelli, Diego;
    • Maroofian, Reza;
    • Rizza, Teresa;
    • Di Nottia, Michela;
    • Invernizzi, Federica;
    • Lamantea, Eleonora;
    • Longo, Daniela;
    • Houlden, Henry;
    • Prokisch, Holger;
    • Rötig, Agnès;
    • Dionisi‐Vici, Carlo;
    • Bertini, Enrico;
    • Ghezzi, Daniele
    Publication type:
    Article