Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Por Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Publicado em 2012

Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Por Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Publicado em 2012

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Por Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik
Publicado em 2013

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Por Dombi, Eszter, Diot, Alan, Morten, Karl, Carver, Janet, Lodge, Tiffany, Fratter, Carl, Ng, Yi Shiau, Liao, Chunyan, Muir, Rebecca, Blakely, Emma L., Hargreaves, Iain, Al-Dosary, Mazhor, Sarkar, Gopa, Hickman, Simon J., Downes, Susan M., Jayawant, Sandeep, Yu-Wai-Man, Patrick, Taylor, Robert W., Poulton, Joanna
Publicado no Neurology (2016)

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Por Tuppen, Helen A. L., Hogan, Vanessa E., He, Langping, Blakely, Emma L., Worgan, Lisa, Al-Dosary, Mazhor, Saretzki, Gabriele, Alston, Charlotte L., Morris, Andrew A., Clarke, Michael, Jones, Simon, Devlin, Anita M., Mansour, Sahar, Chrzanowska-Lightowlers, Zofia M. A., Thorburn, David R., McFarland, Robert, Taylor, Robert W.
Publicado em 2010