Tulinius M - Search Results

1

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Björkman K, et al. Among authors: tulinius m. J Med Genet. 2023 Jan;60(1):65-73. doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 6. J Med Genet. 2023. PMID: 34872991 Free PMC article.

2

Multiple congenital contractures: birth prevalence, etiology, and outcome.

Darin N, Kimber E, Kroksmark AK, Tulinius M. Darin N, et al. Among authors: tulinius m. J Pediatr. 2002 Jan;140(1):61-7. doi: 10.1067/mpd.2002.121148. J Pediatr. 2002. PMID: 11815765

3

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

Tajsharghi H, Darin N, Tulinius M, Oldfors A. Tajsharghi H, et al. Among authors: tulinius m. Neuromuscul Disord. 2005 Apr;15(4):299-302. doi: 10.1016/j.nmd.2004.11.004. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15792869

4

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Tulinius M, Moslemi AR, Darin N, Holme E, Oldfors A. Tulinius M, et al. Neuromuscul Disord. 2005 Jun;15(6):412-5. doi: 10.1016/j.nmd.2005.03.010. Neuromuscul Disord. 2005. PMID: 15907288

5

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A. Kollberg G, et al. Among authors: tulinius m. J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68. doi: 10.1097/01.jnen.0000229987.17548.6e. J Neuropathol Exp Neurol. 2006. PMID: 16896309

6

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M. Arkblad EL, et al. Among authors: tulinius m. Neuromuscul Disord. 2006 Dec;16(12):830-8. doi: 10.1016/j.nmd.2006.08.011. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17049859

7

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E. Kollberg G, et al. Among authors: tulinius m. N Engl J Med. 2007 Oct 11;357(15):1507-14. doi: 10.1056/NEJMoa066691. N Engl J Med. 2007. PMID: 17928598 Free article.

8

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E. Kollberg G, et al. Among authors: tulinius m. Neuromuscul Disord. 2009 Feb;19(2):147-50. doi: 10.1016/j.nmd.2008.11.014. Epub 2009 Jan 12. Neuromuscul Disord. 2009. PMID: 19138848

9

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.

Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N. Arkblad E, et al. Among authors: tulinius m. Acta Paediatr. 2009 May;98(5):865-72. doi: 10.1111/j.1651-2227.2008.01201.x. Epub 2009 Jan 20. Acta Paediatr. 2009. PMID: 19154529

10

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E. Kollberg G, et al. Among authors: tulinius m. Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30. Brain. 2009. PMID: 19567699

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