Somer H - Search Results

1

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: somer h. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978

2

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.

Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B. Mahjneh I, et al. Among authors: somer h. J Neurol. 2006 Mar;253(3):301-6. doi: 10.1007/s00415-005-0983-9. Epub 2005 Sep 15. J Neurol. 2006. PMID: 16151599

3

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy.

Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV. Mahjneh I, et al. Among authors: somer hv. Acta Neurol Scand. 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. Acta Neurol Scand. 2004. PMID: 15242415

4

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestilä M, Udd B. Haravuori H, et al. Among authors: somer h. Neuromuscul Disord. 2004 Mar;14(3):183-7. doi: 10.1016/j.nmd.2003.12.003. Neuromuscul Disord. 2004. PMID: 15036327

5

[Axial myopathy--an unrecognized back disease].

Mahjneh I, Somer H. Mahjneh I, et al. Among authors: somer h. Duodecim. 2002;118(17):1781-5. Duodecim. 2002. PMID: 12370985 Finnish. No abstract available.

6

Pure quadriceps myopathy in two sisters.

Mahjneh I, Somer H, Paetau A, Marconi G. Mahjneh I, et al. Among authors: somer h. Eur J Neurol. 2003 Jul;10(4):453-6. doi: 10.1046/j.1468-1331.2003.00616.x. Eur J Neurol. 2003. PMID: 12823501

7

A distinct phenotype of distal myopathy in a large Finnish family.

Mahjneh I, Haravuori H, Paetau A, Anderson LV, Saarinen A, Udd B, Somer H. Mahjneh I, et al. Among authors: somer h. Neurology. 2003 Jul 8;61(1):87-92. doi: 10.1212/01.wnl.0000073618.91577.e8. Neurology. 2003. PMID: 12847162

8

Gene deletions in X-linked muscular dystrophy.

Lindlöf M, Kiuru A, Kääriäinen H, Kalimo H, Lang H, Pihko H, Rapola J, Somer H, Somer M, Savontaus ML, et al. Lindlöf M, et al. Among authors: somer h, somer m. Am J Hum Genet. 1989 Apr;44(4):496-503. Am J Hum Genet. 1989. PMID: 2929594 Free PMC article.

9

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

Somer H, Palotie A, Somer M, Hoikka V, Peltonen L. Somer H, et al. Among authors: somer m. J Med Genet. 1988 Aug;25(8):543-9. doi: 10.1136/jmg.25.8.543. J Med Genet. 1988. PMID: 3172149 Free PMC article.

10

Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31.

Udd B, Haravuori H, Kalimo H, Partanen J, Pulkkinen L, Paetau A, Peltonen L, Somer H. Udd B, et al. Among authors: somer h. Neuromuscul Disord. 1998 Jun;8(5):327-32. doi: 10.1016/s0960-8966(98)00024-8. Neuromuscul Disord. 1998. PMID: 9673987

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