Recent advances in understanding the molecular genetic basis of mitochondrial disease
Thompson, Kyle, Collier, Jack J., Glasgow, Ruth I. C., Robertson, Fiona M., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Oláhová, Monika, McFarland, Robert, Taylor, Robert W.
Published in Journal of inherited metabolic disease (01.01.2020)
Published in Journal of inherited metabolic disease (01.01.2020)
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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement
Perli, Elena, Pisano, Annalinda, Glasgow, Ruth I. C., Carbo, Miriam, Hardy, Steven A., Falkous, Gavin, He, Langping, Cerbelli, Bruna, Pignataro, Maria Gemma, Zacara, Elisabetta, Re, Federica, Della Monica, Paola Lilla, Morea, Veronica, Bonnen, Penelope E., Taylor, Robert W., d’Amati, Giulia, Giordano, Carla
Published in Scientific reports (25.03.2019)
Published in Scientific reports (25.03.2019)
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Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Glasgow, Ruth I. C., Thompson, Kyle, Barbosa, Inês A., He, Langping, Alston, Charlotte L., Deshpande, Charu, Simpson, Michael A., Morris, Andrew A. M., Neu, Axel, Löbel, Ulrike, Hall, Julie, Prokisch, Holger, Haack, Tobias B., Hempel, Maja, McFarland, Robert, Taylor, Robert W.
Published in Neurogenetics (01.12.2017)
Published in Neurogenetics (01.12.2017)
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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert, Poulton, Joanna, Ryan, Michael T., Wittig, Ilka, Henneke, Marco, Taylor, Robert W.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Smith, Thomas B, Kopajtich, Robert, Demain, Leigh A M, Rea, Alessandro, Thomas, Huw B, Schiff, Manuel, Beetz, Christian, Joss, Shelagh, Conway, Gerard S, Shukla, Anju, Yeole, Mayuri, Radhakrishnan, Periyasamy, Azzouz, Hatem, Chehida, Amel Ben, Elmaleh-Bergès, Monique, Glasgow, Ruth I C, Thompson, Kyle, Oláhová, Monika, He, Langping, Jenkinson, Emma M, Jahic, Amir, Belyantseva, Inna A, Barzik, Melanie, Urquhart, Jill E, O' Sullivan, James, Williams, Simon G, Bhaskar, Sanjeev S, Carrera, Samantha, Blakes, Alexander J M, Banka, Siddharth, Yue, Wyatt W, Ellingford, Jamie M, Houlden, Henry, Munro, Kevin J, Friedman, Thomas B, Taylor, Robert W, Prokisch, Holger, O'Keefe, Raymond T, Newman, William G
Published in medRxiv : the preprint server for health sciences (21.08.2024)
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Published in medRxiv : the preprint server for health sciences (21.08.2024)
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