Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism
Mullan, Lorna A, Mularczyk, Ewa J, Kung, Louise H, Forouhan, Mitra, Wragg, Jordan Ma, Goodacre, Royston, Bateman, John F, Swanton, Eileithyia, Briggs, Michael D, Boot-Handford, Raymond P
Published in The Journal of clinical investigation (01.10.2017)
Published in The Journal of clinical investigation (01.10.2017)
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Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene
Forouhan, Mitra, Sonntag, Stephan, Boot-Handford, Raymond P
Published in Human molecular genetics (15.11.2018)
Published in Human molecular genetics (15.11.2018)
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Journal Article
Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A., Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T., Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W., Wolf, Whitney E., Daniels, M. Leigh Anne, Noone, Peadar G., Ferkol, Thomas W., Sagel, Scott D., Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O'Callaghan, Christopher, Lucas, Jane S., Hogg, Claire, Scambler, Peter J., Emes, Richard D., UK10K, Chung, Eddie M.K., Shoemark, Amelia, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M.
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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Journal Article
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
Forouhan, Mitra, Lim, Wooi Fang, Zanetti-Domingues, Laura C., Tynan, Christopher J., Roberts, Thomas C., Malik, Bilal, Manzano, Raquel, Speciale, Alfina A., Ellerington, Ruth, Garcia-Guerra, Antonio, Fratta, Pietro, Sorarú, Gianni, Greensmith, Linda, Pennuto, Maria, Wood, Matthew J. A., Rinaldi, Carlo
Published in Acta neuropathologica (01.06.2022)
Published in Acta neuropathologica (01.06.2022)
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Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity
Lim, Wooi F, Forouhan, Mitra, Roberts, Thomas C, Dabney, Jesse, Ellerington, Ruth, Speciale, Alfina A, Manzano, Raquel, Lieto, Maria, Sangha, Gavinda, Banerjee, Subhashis, Conceição, Mariana, Cravo, Lara, Biscans, Annabelle, Roux, Loïc, Pourshafie, Naemeh, Grunseich, Christopher, Duguez, Stephanie, Khvorova, Anastasia, Pennuto, Maria, Cortes, Constanza J, La Spada, Albert R, Fischbeck, Kenneth H, Wood, Matthew J A, Rinaldi, Carlo
Published in Science advances (01.08.2021)
Published in Science advances (01.08.2021)
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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo
Published in Brain communications (2021)
Published in Brain communications (2021)
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Journal Article
Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Antony, Dinu, Becker-Heck, Anita, Zariwala, Maimoona A., Schmidts, Miriam, Onoufriadis, Alexandros, Forouhan, Mitra, Wilson, Robert, Taylor-Cox, Theresa, Dewar, Ann, Jackson, Claire, Goggin, Patricia, Loges, Niki T., Olbrich, Heike, Jaspers, Martine, Jorissen, Mark, Leigh, Margaret W., Wolf, Whitney E., Daniels, M. Leigh Anne, Noone, Peadar G., Ferkol, Thomas W., Sagel, Scott D., Rosenfeld, Margaret, Rutman, Andrew, Dixit, Abhijit, O'Callaghan, Christopher, Lucas, Jane S., Hogg, Claire, Scambler, Peter J., Emes, Richard D., UKK, Chung, Eddie M.K., Shoemark, Amelia, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M.
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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