Results 71 to 80 of about 199 (86)

Terapias de reemplazo mitocondrial en la línea germinal y sus aplicaciones clínicas

, 2015
Las mitocondrias son unos orgánulos semiautónomos que contienen su propio genoma. Su papel principal es proveer a las células de energía metabólica en forma de ATP generado a través de la oxidación fosforilativa.
Martí Gutiérrez, Nuria
core  

Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases

, 1995
The Kearns-Sayre syndrome (KSS) associates progressive external ophthalmoplegia initiating prior to the age of 20 years and pigmentary retinitis with a series of other heterogeneous clinical manifestations.
Casademont, J, Montoya, J, Estivill, X, Nunes, V, Barrientos, A, Cardellach, F, Urbano-Márquez, A, Grau, J M   +7 more
core  

Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - 2024. [PDF]

Arq Bras Cardiol
Fernandes F, Simões MV, Correia EB, Marcondes-Braga FG, Coelho-Filho OR, Mesquita CT, Mathias Junior W, Antunes MO, Arteaga-Fernández E, Rochitte CE, Ramires FJA, Alves SMM, Montera MW, Lopes RD, Oliveira Junior MT, Scolari FL, Avila WS, Canesin MF, Bocchi EA, Bacal F, Moura LZ, Saad EB, Scanavacca MI, Valdigem BP, Cano MN, Abizaid AAC, Ribeiro HB, Lemos Neto PA, Ribeiro GCA, Jatene FB, Dias RR, Beck-da-Silva L, Rohde LEP, Bittencourt MI, Pereira ADC, Krieger JE, Villacorta Junior H, Martins WA, Figueiredo Neto JA, Cardoso JN, Pastore CA, Jatene IB, Tanaka ACS, Hotta VT, Romano MMD, Albuquerque DC, Mourilhe-Rocha R, Hajjar LA, Brito Junior FS, Caramelli B, Calderaro D, Farsky PS, Colafranceschi AS, Pinto IMF, Vieira MLC, Danzmann LC, Barberato SH, Mady C, Martinelli Filho M, Torbey AFM, Schwartzmann PV, Macedo AVS, Ferreira SMA, Schmidt A, Melo MDT, Lima Filho MO, Sposito AC, Brito FS, Biolo A, Madrini Junior V, Rizk SI, Mesquita ET.   +71 more
europepmc   +1 more source

Himalayan whole-genome sequences provide insight into population formation and adaptation

Arciero E, Almarri MA, Mezzavilla M, Xue Y, Hallast P, Hammoud C, Chen Y, Skov L, Kraaijenbrink T, Ayub Q, Yang H, van Driem G, Jobling MA, de Knijff P, Tyler-Smith C, Asan, Haber M.   +16 more
europepmc   +1 more source

Análisis de heteroplasmia mitocondrial como herramienta para entender procesos de psicosis en adultos costarricenses

Los trastornos psiquiátricos tienen gran impacto en la sociedad. Estudios genéticos han intentado dilucidar los componentes hereditarios a los que se encuentran sujetos. El ADN mitocondrial es afectado por las especies reactivas de oxígeno producidos por la respiración celular.
Oreamuno Rodríguez, María Mercedes
openaire   +2 more sources

Endocrine Disorders in Two Sisters Affected by MELAS Syndrome

Journal of Child Neurology, 2000
A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders.
P. Balestri, S. Grosso
semanticscholar   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

Heteroplasmic mutation of m.3243A>G mitochondrial DNA in the Yakut family with MELAS syndrome: connection with phenotypic manifestations

YAKUT MEDICAL JOURNAL
For the first time, the diagnosis of MELAS syndrome in a Yakut family was genetically verified using mitochondrial genome sequencing. The substitution of adenine for guanine at position 3243 (m.3243A>G) in the tRNALeu(UUR) gene (MT-TL1) was confirmed ...
R. Zakharova, D. Tikhonov, M. Golubenko, T. Sivtseva, S. Semenov, A. A. Tappakhov, T. Nikolaeva, T. M. Klimova, V. Osakovsky, S. A. Fedorova   +9 more
semanticscholar   +1 more source