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Author/Creator Freyer, Christoph

1. Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations. (9th October 2018)

Authors:
Paucar, Martin; Pajak, Aleksandra; Freyer, Christoph; Bergendal, Åsa; Döry, Margit; Laffita-Mesa, José Miguel; Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Savitcheva, Irina; Walker, Ruth H.; Wedell, Anna; Wredenberg, Anna; Svenningsson, Per
Journal:
Neurology
Issue:
Volume 91:Number 15(2018)
Page Start:
Record Type:
Journal Article
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3. Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy. Issue 6 (28th March 2019)

Authors:
Maffezzini, Camilla; Laine, Isabelle; Dallabona, Cristina; Clemente, Paula; Calvo‐Garrido, Javier; Wibom, Rolf; Naess, Karin; Barbaro, Michela; Falk, Anna; Donnini, Claudia; Freyer, Christoph; Wredenberg, Anna; Wedell, Anna
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 6(2019)
Page Start:
n/a
Record Type:
Journal Article
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4. Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy. (April 2021)

Authors:
Bruhn, Helene; Samuelsson, Kristin; Schober, Florian A.; Engvall, Martin; Lesko, Nicole; Wibom, Rolf; Nennesmo, Inger; Calvo-Garrido, Javier; Press, Rayomand; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna
Journal:
Neurology
Issue:
Volume 7:Number 2(2021)
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Record Type:
Journal Article
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5. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Issue 12 (13th January 2022)

Authors:
Schober, Florian A; Tang, Jia Xin; Sergeant, Kate; Moedas, Marco F; Zierz, Charlotte M; Moore, David; Smith, Conrad; Lewis, David; Guha, Nishan; Hopton, Sila; Falkous, Gavin; Lam, Amanda; Pyle, Angela; Poulton, Joanna; Gorman, Gráinne S; Taylor, Robert W; Freyer, Christoph; Wredenberg, Anna
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 12(2022)
Page Start:
2049
Record Type:
Journal Article
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6. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2, 4–dihydroxybensoic acid. Issue 11 (17th June 2015)

Authors:
Freyer, Christoph; Stranneheim, Henrik; Naess, Karin; Mourier, Arnaud; Felser, Andrea; Maffezzini, Camilla; Lesko, Nicole; Bruhn, Helene; Engvall, Martin; Wibom, Rolf; Barbaro, Michela; Hinze, Yvonne; Magnusson, Måns; Andeer, Robin; Zetterström, Rolf H; von Döbeln, Ulrika; Wredenberg, Anna; Wedel...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 11(2015)
Page Start:
779
Record Type:
Journal Article
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7. Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Issue 4 (4th February 2021)

Authors:
Correia, Sandrina P.; Moedas, Marco F.; Naess, Karin; Bruhn, Helene; Maffezzini, Camilla; Calvo‐Garrido, Javier; Lesko, Nicole; Wibom, Rolf; Schober, Florian A.; Jemt, Anders; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
378
Record Type:
Journal Article
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