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Author/Creator Engvall, Martin

1. 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)
Page Start:
Record Type:
Journal Article
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2. 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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3. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Issue 4 (23rd January 2020)

Authors:
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal ME; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, I. F. M; Pias‐Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
726
Record Type:
Journal Article
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4. The impact of gender, puberty, and pregnancy in patients with POLG disease. Issue 10 (18th September 2020)

Authors:
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias‐Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 10(2020)
Page Start:
2019
Record Type:
Journal Article
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5. Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications. (19th June 2018)

Authors:
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Brodtkorb, Eylert; Fiskerstrand, Torunn; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A.
Journal:
Epilepsia
Issue:
Volume 59:issue 8(2018)
Page Start:
1595
Record Type:
Journal Article
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6. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Issue 1 (6th December 2021)

Authors:
Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence A; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 1(2023)
Page Start:
65
Record Type:
Journal Article
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