Darin N - Search Results

1

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. Orlén H, et al. Among authors: darin n. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194956

2

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: darin n. 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

3

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).

Tajsharghi H, Darin N, Rekabdar E, Kyllerman M, Wahlström J, Martinsson T, Oldfors A. Tajsharghi H, et al. Among authors: darin n. Eur J Hum Genet. 2005 May;13(5):617-22. doi: 10.1038/sj.ejhg.5201375. Eur J Hum Genet. 2005. PMID: 15741996

4

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A. Ohlsson M, et al. Among authors: darin n. Neuromuscul Disord. 2004 Sep;14(8-9):471-5. doi: 10.1016/j.nmd.2004.05.016. Neuromuscul Disord. 2004. PMID: 15336687

5

Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy.

Jansson M, Darin N, Kyllerman M, Martinsson T, Wahlström J, Oldfors A. Jansson M, et al. Among authors: darin n. Acta Neuropathol. 2000 Jul;100(1):23-8. doi: 10.1007/s004010051188. Acta Neuropathol. 2000. PMID: 10912916

6

Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.

Tajsharghi H, Sunnerhagen KS, Darin N, Kyllerman M, Oldfors A. Tajsharghi H, et al. Among authors: darin n. J Neurol. 2004 Feb;251(2):179-83. doi: 10.1007/s00415-004-0295-5. J Neurol. 2004. PMID: 14991352

7

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: darin n. 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

8

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

Martinsson T, Darin N, Kyllerman M, Oldfors A, Hallberg B, Wahlström J. Martinsson T, et al. Among authors: darin n. Am J Hum Genet. 1999 May;64(5):1420-6. doi: 10.1086/302375. Am J Hum Genet. 1999. PMID: 10205275 Free PMC article.

9

Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.

Darin N, Kyllerman M, Hård AL, Nordborg C, Månsson JE. Darin N, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):553-5. doi: 10.1016/j.ejpn.2008.11.003. Epub 2008 Dec 18. Eur J Paediatr Neurol. 2009. PMID: 19097920

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: darin n. 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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