Zobrazeno 1 - 3
of 3
pro vyhledávání: '"René I. de Coo"'
Autor:
Ruben W.J. van Helden, Matthew J. Birket, Christian Freund, Christaan H. Arendzen, Harald M. Mikkers, Valeria Orlova, René I. de Coo, Christine L. Mummery, Milena Bellin
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102374- (2021)
Combined Oxidative Phosphorylation Deficiency 8 (COXPD8) is an autosomal recessive disorder causing lethal childhood-onset hypertrophic cardiomyopathy. Homozygous or compound heterozygous mutations in the nuclear-encoded mitochondrial alanyl-tRNA syn
Externí odkaz:
https://doaj.org/article/e9be3e0eb06f46b2aeab5553c8f64016
Autor:
Karin Naess, Shamima Rahman, Elsebet Ostergaard, Martin Engvall, Johanna Uusimaa, Claus Klingenberg, Laurence A. Bindoff, Niklas Darin, Chantal M. E. Tallaksen, Leticia Pias-Peleteiro, René I. de Coo, Christian Samsonsen, Magnhild Rasmussen, Eylert Brodtkorb, Omar Hikmat, Pirjo Isohanni
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 7(10), 2019-2025. Wiley
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, C M E, Samsonsen, C, Brodtkorb, E, Ostergaard, E, de Coo, R, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, L A 2020, ' The impact of gender, puberty, and pregnancy in patients with POLG disease ', Annals of Clinical and Translational Neurology, vol. 7, no. 10, pp. 2019-2025 . https://doi.org/10.1002/acn3.51199
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Annals of clinical and translational neurology
Annals of Clinical and Translational Neurology, 7(10), 2019-2025. Wiley
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Tallaksen, C M E, Samsonsen, C, Brodtkorb, E, Ostergaard, E, de Coo, R, Pias-Peleteiro, L, Isohanni, P, Uusimaa, J, Darin, N, Rahman, S & Bindoff, L A 2020, ' The impact of gender, puberty, and pregnancy in patients with POLG disease ', Annals of Clinical and Translational Neurology, vol. 7, no. 10, pp. 2019-2025 . https://doi.org/10.1002/acn3.51199
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Annals of clinical and translational neurology
Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 patients wi
Autor:
Christian Freund, Christaan H. Arendzen, Milena Bellin, Ruben W.J. van Helden, Valeria V. Orlova, Christine L. Mummery, René I. de Coo, Matthew J. Birket, Harald Mikkers
Publikováno v:
Stem Cell Research, 53. ELSEVIER
Stem Cell Research, 53:102374. Elsevier Inc.
Stem Cell Research, Vol 53, Iss, Pp 102374-(2021)
Stem Cell Research, 53:102374. Elsevier Inc.
Stem Cell Research, Vol 53, Iss, Pp 102374-(2021)
Combined Oxidative Phosphorylation Deficiency 8 (COXPD8) is an autosomal recessive disorder causing lethal childhood-onset hypertrophic cardiomyopathy. Homozygous or compound heterozygous mutations in the nuclear-encoded mitochondrial alanyl-tRNA syn