A case‐comparison study of pregnant women with mitochondrial disease – what to expect?

Autor: Feeney, CL, Lim, AZ, Fagan, E, Blain, A, Bright, A, Maddison, J, Devine, H, Stewart, J, Taylor, RW, Gorman, GS, Turnbull, DM, Nesbitt, V, McFarland, R

Publikováno v: Bjog

Objective Mitochondrial disease is a disorder of energy metabolism that affects 1 in 4300 adults in the UK. Pregnancy is associated with physiological demands that have implications for energy metabolism. We were interested to know how pregnancy was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::61218dac632730da7e5f476425f54fe0
http://europepmc.org/articles/PMC6767368

The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study

Autor: Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R

Importance: Mutations in the mitochondrial MT-ATP6 gene are an important cause of mitochondrial disease. Phenotypes related to these mutations include Leigh syndrome (LS), and the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP); howev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::a9e0a514531f2ca259874b1236918180
https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104f

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Autor: Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW

Publikováno v: Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Genetics

Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the similar to 65 genes encoding the complex I structural subunits o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48
https://www.repository.cam.ac.uk/handle/1810/293025

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder (vol 103, pg 221, 2018)

Autor: Martin, CA, Sarlos, K, Logan, CV, Thakur, RS, Parry, DA, Bizard, AH, Leitch, A, Cleal, L, Ali, NS, Al-Owain, MA, Allen, W, Altmuller, J, Aza-Carmona, M, Barakat, BAY, Barraza-Garcia, J, Begtrup, A, Bogliolo, M, Cho, MT, Cruz-Rojo, J, Dhahrabi, HAM, Elcioglu, NH, GOSgene, Gorman, GS, Jobling, R, Kesterton, I, Kishita, Y, Kohda, M, Stabej, PLQ, Malallah, AJ, Nurnberg, P, Ohtake, A, Okazaki, Y, Pujol, R, Ramirez, MJ, Revah-Politi, A, Shimura, M, Stevens, P, Taylor, RW, Turner, L, Williams, H, Wilson, C, Yigit, G, Zahavich, L, Alkuraya, FS, Surralles, J, Iglesias, A, Murayama, K, Wollnik, B, Dattani, M, Heath, KE, Hickson, ID, Jackson, AP

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::0bf6a51f6794f84405b1804b6295fc9b
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3369

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Autor: Ortigoza-Escobar JD, Alfadhel M, Molero M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch-Iriberri R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B, Marti-Sanchez L

Publikováno v: ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e1bc57457de8297d97ce0c96773803b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17410