Sandell SM - Search Results

1

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

Sandell SM, Mahjneh I, Palmio J, Tasca G, Ricci E, Udd BA. Sandell SM, et al. Eur J Neurol. 2013 Dec;20(12):1553-9. doi: 10.1111/ene.12239. Epub 2013 Jul 19. Eur J Neurol. 2013. PMID: 23865856

2

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Sarparanta J, et al. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.

3

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B. Palmio J, et al. Neuromuscul Disord. 2015 Nov;25(11):835-42. doi: 10.1016/j.nmd.2015.07.014. Epub 2015 Jul 27. Neuromuscul Disord. 2015. PMID: 26338452

4

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Sandell S, Huovinen S, Palmio J, Raheem O, Lindfors M, Zhao F, Haapasalo H, Udd B. Sandell S, et al. Acta Neuropathol Commun. 2016 Feb 5;4:9. doi: 10.1186/s40478-016-0276-9. Acta Neuropathol Commun. 2016. PMID: 26847086 Free PMC article.

5

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Sandell S, Huovinen S, Sarparanta J, Luque H, Raheem O, Haapasalo H, Hackman P, Udd B. Sandell S, et al. J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):834-9. doi: 10.1136/jnnp.2009.192351. J Neurol Neurosurg Psychiatry. 2010. PMID: 20682716

6

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B. Hackman P, et al. Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3. Neuromuscul Disord. 2011. PMID: 21376592

7

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008. Neuromuscul Disord. 2011. PMID: 21684747

8

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B. Raheem O, et al. Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14. Neurology. 2012. PMID: 23152584 Free PMC article. Clinical Trial.

9

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B. Auranen M, et al. Neurol Genet. 2015 Jun 4;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066546 Free PMC article.

10

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B. Penttilä S, et al. J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3. J Neurol Neurosurg Psychiatry. 2017. PMID: 27810918 No abstract available.

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