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Hannu Väinö Kalevi Somer

19852007
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Publications 1985 2007

  • 19 Article
  • 9 Chapter
  • 1 Anthology or special issue
  • 1 Review Article
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Article
2007

Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report

Tanskanen, M., Paetau, A., Salonen, O., Salmi, T., Lamminen, A., Somer, H. V. K. & Kiuru-Enari, S. M. K., 2007, In : Amyloid. 14, 1, p. 89-95 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2006

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

Mahjneh, I., Anttonen, A-K., Somer, M., Paetau, A., Lehesjoki, A-E., Somer, H. & Udd, B., 2006, In : Journal of Neurology. 253, 3, p. 301-306 6 p.

Research output: Contribution to journalArticleScientificpeer-review

SILeiksi jäävät proteiinit saavat aikaan solukuoleman

Anttonen, A-K., Mahjneh, I., Hämäläinen, RH., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T. H., Kalimo, H., Pateau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H. V. K. & Lehesjoki, A-E., 2006, In : Duodecim. 122, p. 755-756 2 p.

Research output: Contribution to journalArticleScientific

2005

Myotonias and army personnel: symptoms and effects on service fitness

Mäkelä, J. P. T. & Somer, H., 2005, In : Military Medicine. 170, 9, p. 806-809 4 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Anttonen, A-K., Mahjneh, I., Hämäläinen, R., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H. O., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H. & Lehesjoki, A-E., 2005, In : Nature Genetics. 37, p. 1309-1311 3 p.

Research output: Contribution to journalArticleScientificpeer-review

2004

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

Haravuori, H., Siitonen, H. A., Mahjneh, I., Hackman, P., Lahti, L., Somer, H. V. K., Peltonen, L., Kestila, M. & Udd, B., 2004, In : Neuromuscular Disorders. 14, p. 183-187

Research output: Contribution to journalArticleScientificpeer-review

Novel splice site CACNA1A mutation causing episodic ataxia type 2

Kaunisto, M. A., Harno, H., Kallela, M., Somer, H., Sallinen, R., Hämäläinen, E., Miettinen, P. J., Vesa, J., Orpana, A., Palotie, A., Färkkilä, M. & Wessman, M., 2004, In : Neurogenetics. 5, p. 69-73 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study

Luoma, P., Melberg, A., Rinne, J. O., Kaukonen, J. A., Nupponen, N. N., Chalmers, R. M., Oldfors, A., Rautakorpi, I., Peltonen, L., Majamaa, K., Somer, H. & Suomalainen, A., 2004, In : Lancet. 364, p. 875-882 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2003

A distinct phenotype of distal myopathy in a large Finnish family

Mahjneh, I., Haravuori, H., Paetau, A. E., Anderson, LV., Saarinen, A., Udd, B. & Somer, H. V. K., 2003, In : Neurology. 61, p. 87-92

Research output: Contribution to journalArticleScientificpeer-review

2001

ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease

Lofberg, M., Lindholm, H., Naveri, H., Majander, A., Suomalainen, A., Paetau, A., Sovijärvi, A., Harkonen, M. & Somer, H., 2001, In : Neuromuscular Disorders. 11, p. 370-375 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001)

Spelbrink, J. N., Li, F. Y., Tiranti, V., Nikali, K., Yuan, Q. P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., Santoro, L., Toscano, A., Fabrizi, G. M., Somer, H., Croxen, R., Beeson, D., Poulton, J., Suomalainen, A., Jacobs, H. T., Zeviani, M. & 1 others, Larsson, C., 2001, In : Nature Genetics. 28, p. 223-231 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Secondary calpain3 deficiency in 2q-linked muscular dystrophy - Titin is the candidate gene

Haravuori, H., Vihola, A., Straub, Auranen, M., Richard, Marchand, S., Voit, T., Labeit, S., Somer, H., Peltonen, L., Beckmann, JS. & Udd, B., 10 Apr 2001, In : Neurology. 56, 7, p. 869-877 9 p.

Research output: Contribution to journalArticleScientificpeer-review

1998

Assignment of the tibial muscular dystrophy locus to chromosome 2q31

Haravuori, H., Mäkelä-Bengs, P., Udd, B., Partanen, J., Pulkkinen, L., Somer, H. V. K. & Peltonen, L., 1998, In : American Journal of Human Genetics. 62, p. 620-626

Research output: Contribution to journalArticleScientificpeer-review

Serum gelsolin and rhabdomyolysis

Lofberg, M., Paunio, T., Tahtela, R., Kiuru, S. & Somer, H., 7 May 1998, In : Journal of the Neurological Sciences. 157, 2, p. 187-190 4 p.

Research output: Contribution to journalArticleScientificpeer-review

1995

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

Kiuru, S., SEPPÄLÄINEN, A-M., SALONEN, O., HOKKANEN, L., SOMER, H. & Palo, J., Mar 1995, In : Amyloid. 2, 1, p. 22-30 9 p.

Research output: Contribution to journalArticleScientificpeer-review

1992

DISORDERS ASSOCIATED WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

HALTIA, M., SUOMALAINEN, A., MAJANDER, A. & SOMER, H., 1992, In : Brain Pathology. 2, p. 133-139 7 p.

Research output: Contribution to journalArticleScientificpeer-review

INHERITED IDIOPATHIC DILATED CARDIOMYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

SUOMALAINEN, A., PAETAU, A., LEINONEN, H., MAJANDER, A., PELTONEN, L. & SOMER, H., 1992, In : Lancet. 340, p. 1319-1320 2 p.

Research output: Contribution to journalArticleScientificpeer-review

MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA IN SEVERAL TISSUES OF A PATIENT WITH SEVERE RETARDED DEPRESSION AND FAMILIAL PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SUOMALAINEN, A., MAJANDER, A., HALTIA, M., SOMER, H., LONNQVIST, J., SAVONTAUS, M. L. & PELTONEN, L., 1992, In : Journal of Clinical Investigation. 90, p. 61-66 6 p.

Research output: Contribution to journalArticleScientificpeer-review

1985

DUCHENNES-LIKE MUSCULAR-DYSTROPHY IN 2 SISTERS WITH NORMAL KARYOTYPES - EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE

SOMER, H., VOUTILAINEN, A., KNUUTILA, S., Kaitila, I. I., RAPOLA, J. & LEINONEN, H., 1985, In : Clinical Genetics. 28, 2, p. 151-156 6 p.

Research output: Contribution to journalArticleScientificpeer-review