Hedberg-Oldfors C - Search Results

1

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Michael E, Hedberg-Oldfors C, Wilmar P, Visuttijai K, Oldfors A, Darin N. Michael E, et al. Neuromuscul Disord. 2019 Feb;29(2):108-113. doi: 10.1016/j.nmd.2018.12.009. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30642739

2

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. Malfatti E, et al. Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31. Ann Neurol. 2014. PMID: 25272951 Free PMC article.

3

Mitochondrial pathology in inclusion body myositis.

Lindgren U, Roos S, Hedberg Oldfors C, Moslemi AR, Lindberg C, Oldfors A. Lindgren U, et al. Neuromuscul Disord. 2015 Apr;25(4):281-8. doi: 10.1016/j.nmd.2014.12.010. Epub 2015 Jan 6. Neuromuscul Disord. 2015. PMID: 25638290

4

Early onset cardiomyopathy in females with Danon disease.

Hedberg Oldfors C, Máthé G, Thomson K, Tulinius M, Karason K, Östman-Smith I, Oldfors A. Hedberg Oldfors C, et al. Neuromuscul Disord. 2015 Jun;25(6):493-501. doi: 10.1016/j.nmd.2015.03.005. Epub 2015 Mar 16. Neuromuscul Disord. 2015. PMID: 25900304

5

Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region.

Hedberg Oldfors C, Dios DG, Linder A, Visuttijai K, Samuelson E, Karlsson S, Nilsson S, Behboudi A. Hedberg Oldfors C, et al. BMC Genet. 2015 Jul 14;16:80. doi: 10.1186/s12863-015-0238-4. BMC Genet. 2015. PMID: 26170120 Free PMC article.

6

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

Luo S, Zhu W, Yue D, Lin J, Wang Y, Zhu Z, Qiu W, Lu J, Hedberg-Oldfors C, Oldfors A, Zhao C. Luo S, et al. Neuromuscul Disord. 2015 Oct;25(10):780-5. doi: 10.1016/j.nmd.2015.07.007. Epub 2015 Jul 15. Neuromuscul Disord. 2015. PMID: 26255073

7

Polyglucosan storage myopathies.

Hedberg-Oldfors C, Oldfors A. Hedberg-Oldfors C, et al. Mol Aspects Med. 2015 Dec;46:85-100. doi: 10.1016/j.mam.2015.08.006. Epub 2015 Aug 13. Mol Aspects Med. 2015. PMID: 26278982 Review.

8

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C. Topa A, et al. Am J Med Genet A. 2016 May;170A(5):1155-64. doi: 10.1002/ajmg.a.37593. Epub 2016 Feb 11. Am J Med Genet A. 2016. PMID: 26866830

9

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Willis T, Hedberg-Oldfors C, Alhaswani Z, Kulshrestha R, Sewry C, Oldfors A. Willis T, et al. J Neurol. 2016 Jul;263(7):1427-33. doi: 10.1007/s00415-016-8154-8. Epub 2016 May 13. J Neurol. 2016. PMID: 27177998

10

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.

Hedberg-Oldfors C, Darin N, Olsson Engman M, Orfanos Z, Thomsen C, van der Ven PF, Oldfors A. Hedberg-Oldfors C, et al. Eur J Hum Genet. 2016 Dec;24(12):1771-1777. doi: 10.1038/ejhg.2016.98. Epub 2016 Aug 3. Eur J Hum Genet. 2016. PMID: 27485408 Free PMC article.

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