Showing 1–6 of 6 results
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Amendments and Corrections |
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| Open
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Research | | Open
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Research | | Open
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
- Veronika Boczonadi
- , Martin S King
- , Anthony C Smith
- , Monika Olahova
- , Boglarka Bansagi
- , Andreas Roos
- , Filmon Eyassu
- , Christoph Borchers
- , Venkateswaran Ramesh
- , Hanns Lochmüller
- , Tuomo Polvikoski
- , Roger G Whittaker
- , Angela Pyle
- , Helen Griffin
- , Robert W Taylor
- , Patrick F Chinnery
- , Alan J Robinson
- , Edmund R S Kunji
- & Rita Horvath
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Research |
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Research | | Open
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
- Veronika Boczonadi
- , Juliane S. Müller
- , Angela Pyle
- , Jennifer Munkley
- , Talya Dor
- , Jade Quartararo
- , Ileana Ferrero
- , Veronika Karcagi
- , Michele Giunta
- , Tuomo Polvikoski
- , Daniel Birchall
- , Agota Princzinger
- , Yuval Cinnamon
- , Susanne Lützkendorf
- , Henriett Piko
- , Mojgan Reza
- , Laura Florez
- , Mauro Santibanez-Koref
- , Helen Griffin
- , Markus Schuelke
- , Orly Elpeleg
- , Luba Kalaydjieva
- , Hanns Lochmüller
- , David J. Elliott
- , Patrick F. Chinnery
- , Shimon Edvardson
- & Rita Horvath
