Sandell S - Search Results

1

[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients].

Jokela M, Palmio J, Sandell S, Penttilä S, Suominen T, Udd B. Jokela M, et al. Among authors: sandell s. Duodecim. 2013;129(19):2011-20. Duodecim. 2013. PMID: 24218732 Finnish.

2

Distal myopathies in Finnish patients.

Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B. Palmio J, et al. Among authors: sandell s. Duodecim. 2016;132(18):1635-44. Duodecim. 2016. PMID: 29188941 Review.

3

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

Jokela ME, Jääskeläinen SK, Sandell S, Palmio J, Penttilä S, Saukkonen A, Soikkeli R, Udd B. Jokela ME, et al. Among authors: sandell s. J Neurol Sci. 2015 Aug 15;355(1-2):143-6. doi: 10.1016/j.jns.2015.06.002. Epub 2015 Jun 3. J Neurol Sci. 2015. PMID: 26059445

4

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. Among authors: sandell s. 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

5

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. Among authors: sandell s. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008. Neuromuscul Disord. 2011. PMID: 21684747

6

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. Among authors: sandell s. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.

7

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. Among authors: sandell s. 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

8

'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

9

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.

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. Among authors: sandell s. 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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