Works by Falabella, Micol

Results: 12
    1

    Activating AMPK improves pathological phenotypes due to mtDNA depletion.

    Published in:
    FEBS Journal, 2025, v. 292, n. 9, p. 2359, doi. 10.1111/febs.70006
    By:
    • Carvalho, Gustavo;
    • Nguyen, Tran V. H.;
    • Repolês, Bruno;
    • Forslund, Josefin M. E.;
    • Wijethunga, W. M. Ruchitha Rukmal;
    • Ranjbarian, Farahnaz;
    • Mendes, Isabela C.;
    • Gorospe, Choco Michael;
    • Chaudhari, Namrata;
    • Falabella, Micol;
    • Doimo, Mara;
    • Wanrooij, Sjoerd;
    • Pitceathly, Robert D. S.;
    • Hofer, Anders;
    • Wanrooij, Paulina H.
    Publication type:
    Article
    2
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    6

    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32908-7
    By:
    • Macken, William L.;
    • Falabella, Micol;
    • McKittrick, Caroline;
    • Pizzamiglio, Chiara;
    • Ellmers, Rebecca;
    • Eggleton, Kelly;
    • Woodward, Cathy E.;
    • Patel, Yogen;
    • Labrum, Robyn;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.
    Publication type:
    Article
    7

    Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 647, doi. 10.1093/brain/awae268
    By:
    • Falabella, Micol;
    • Pizzamiglio, Chiara;
    • Tabara, Luis Carlos;
    • Munro, Benjamin;
    • Abdel-Hamid, Mohamed S;
    • Sonmezler, Ece;
    • Macken, William L;
    • Lu, Shanti;
    • Tilokani, Lisa;
    • Flannery, Padraig J;
    • Patel, Nina;
    • Pope, Simon A S;
    • Heales, Simon J R;
    • Hammadi, Dania B H;
    • Alston, Charlotte L;
    • Taylor, Robert W;
    • Lochmuller, Hanns;
    • Woodward, Cathy E;
    • Labrum, Robyn;
    • Vandrovcova, Jana
    Publication type:
    Article
    8

    Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 11, p. 3949, doi. 10.1093/brain/awae185
    By:
    • Nakamura, Yuji;
    • Shimada, Issei S;
    • Maroofian, Reza;
    • Falabella, Micol;
    • Zaki, Maha S;
    • Fujimoto, Masanori;
    • Sato, Emi;
    • Takase, Hiroshi;
    • Aoki, Shiho;
    • Miyauchi, Akihiko;
    • Koshimizu, Eriko;
    • Miyatake, Satoko;
    • Arioka, Yuko;
    • Honda, Mizuki;
    • Higashi, Takayoshi;
    • Miya, Fuyuki;
    • Okubo, Yukimune;
    • Ogawa, Isamu;
    • Scardamaglia, Annarita;
    • Miryounesi, Mohammad
    Publication type:
    Article
    9

    Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

    Published in:
    2021
    By:
    • Poole, Olivia V.;
    • Pizzamiglio, Chiara;
    • Murphy, David;
    • Falabella, Micol;
    • Macken, William L.;
    • Bugiardini, Enrico;
    • Woodward, Cathy E.;
    • Labrum, Robyn;
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo;
    • Chelban, Viorica;
    • Kaiyrzhanov, Rauan;
    • Maroofian, Reza;
    • Amato, Anthony A.;
    • Gregory, Allison;
    • Hayflick, Susan J.;
    • Jonvik, Hallgeir;
    • Wood, Nicholas;
    • Houlden, Henry;
    • Vandrovcova, Jana
    Publication type:
    journal article
    10

    Haploinsufficiency of progranulin causes mitochondrial dysfunction.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.070907
    By:
    • Bautista, Javier S.;
    • Falabella, Micol;
    • Lu, Shanti;
    • Rohrer, Jonathan D.;
    • Plun‐Favreau, Helene;
    • Wray, Selina;
    • Taanman, Jan‐Willam;
    • Pitceathly, Robert D. S.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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