Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kristine Chapman"'
Autor:
Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara
Publikováno v:
The EMBO Journal
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6‐months of age. RIRCD is associated with the homoplasmic m.14674T>C m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45d
http://europepmc.org/articles/PMC7705457
http://europepmc.org/articles/PMC7705457
Autor:
Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029
Publikováno v:
Catalogue and Index, Iss 185, Pp 59-63 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::1e00f84db17a431e820315c07ede5060
http://www.cilip.org.uk/sites/default/files/documents/chapman_kristine_maxwell_jo_obrien_elly_thomson_kirsty_woolfries_helen._equality_and_diversity_in_member_networks_-_a_cilip_leadership_programme_project.pdf
http://www.cilip.org.uk/sites/default/files/documents/chapman_kristine_maxwell_jo_obrien_elly_thomson_kirsty_woolfries_helen._equality_and_diversity_in_member_networks_-_a_cilip_leadership_programme_project.pdf
Publikováno v:
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne. 187(2)
We recognize the desire to produce a “Five things to know about …” article for a common clinical condition. After all, the popular press constantly barrages us with similar entertaining lists of facts we didn’t know about certain things. Squi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::080a6b9d07a2fa1dad54fcc131c76b2f
https://pubmed.ncbi.nlm.nih.gov/25646374
https://pubmed.ncbi.nlm.nih.gov/25646374
Autor:
Michelle Demos, Kevin Farrell, Vincenzo Macri, Linlea Armstrong, Tanya N. Nelson, Eric A. Accili, Kristine Chapman
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 24(5)
Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage-gated potassium channel gene. In the present study, we describe a family with novel clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36bc20721eece213b1fb39d098e00d85
https://pubmed.ncbi.nlm.nih.gov/19205071
https://pubmed.ncbi.nlm.nih.gov/19205071