Mahjneh I - 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: mahjneh i. 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. 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

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

4

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. Acta Neurol Scand. 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. Acta Neurol Scand. 2004. PMID: 15242415

5

[Axial myopathy--an unrecognized back disease].

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

6

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: mahjneh i. Neuromuscul Disord. 2004 Mar;14(3):183-7. doi: 10.1016/j.nmd.2003.12.003. Neuromuscul Disord. 2004. PMID: 15036327

7

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: mahjneh i. 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

8

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S. Ylikallio E, et al. Among authors: mahjneh i. J Neuromuscul Dis. 2016 Nov 29;3(4):475-485. doi: 10.3233/JND-160186. J Neuromuscul Dis. 2016. PMID: 27911336

9

Pure quadriceps myopathy in two sisters.

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

10

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. Neurology. 2003 Jul 8;61(1):87-92. doi: 10.1212/01.wnl.0000073618.91577.e8. Neurology. 2003. PMID: 12847162

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