檢索結果 - Pennisi, Alessandra

Expanding the clinical spectrum of MTTF mutations 由 Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold

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Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF 由 Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold

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Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy 由 Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès

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Biallelic IARS2 mutations presenting as sideroblastic anemia 由 Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Ormieres, Clothilde, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R., Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Steffann, Julie

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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease 由 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, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima

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