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

द्वारा 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
प्रकाशित 2012

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

द्वारा 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
प्रकाशित 2012

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

द्वारा 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
प्रकाशित 2013

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

द्वारा 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
में प्रकाशित Neurology (2016)

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

द्वारा 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.
प्रकाशित 2010