Zobrazeno 1 - 10 of 335 pro vyhledávání: '"H. Somer"'
1
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Autor: Raoul C.M. Hennekam, Tim Cundy, E. Steichen-Gersdorf, Shauna Heeger, J. A. Batch, Andrea Superti-Furga, Francis H. Glorieux, Leena Peltonen, R. B. Slee, E. Lemyre, A. Kohlschuetter, Bjorn R. Olsen, W. Swoboda, A. Jans, M. J. van den Boogaard, Bernhard Zabel, Konrad Oexle, Graeme C.M. Black, M. Zacharin, B. Floege, Han G. Brunner, Rajkumar Ramesar, Wafaa M. Suwairi, Sergio Roman-Roman, Jose Marcelino, C. Borrone, Anthony M. Reginato, J. Allgrove, Beth A. Sullivan, A. De Paepe, Matthew L. Warman, H. Somer, Beat Steinmann, M. Arslan-Kirchner, Georges Rawadi, W. Van Hul, K. Keppler-Noreuil, W. N. Adkins, G. Sabatakos, Bruno Dallapiccola, Chong Ae Kim, Naomi Fukai, Dorit Lev, Tatsuo Hirose, Miikka Vikkula, Marcela Votruba, Teresa Garcia, M. Lambert, M. L. Halfhide, R. G. Boles, Roland Baron, G. F. Carle, H. W. Wang, L. M. Boon, M. Romanengo, Harald Jüppner, T. Letteboer, Barbara Hall, Peter Beighton, Yaoqin Gong, Didier Lacombe, Suneel S. Apte
Publikováno v: Cell
Cell, 2001, 107 (4), pp.513-23
Cell, 107, 513--23
Cell, Elsevier, 2001, 107 (4), pp.513-23
Cell, 107(4), 513-523. Cell Press
Cell, 107, 4, pp. 513--23
Item does not contain fulltext In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LR
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472a5125a25ce341671a285b2b482a0a
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2
Serum concentrations of collagen degrading enzymes and their inhibitors after downhill running
Autor: Juha Oksa, M. Höyhtyä, Tero Mäkinen, T. Turpeenniemi‐Hujanen, S. O. A. Koskinen, H. Somer, Vesa Martikkala, M. Löfberg, Hannu Rintamäki, Timo E.S. Takala
Publikováno v: Scandinavian Journal of Medicine & Science in Sports. 11:9-15
In the present study the release of proteins degrading extracellular matrix compounds to circulation was measured after damaging exercise in humans. Muscle damage was induced by downhill running; furthermore, the exercise was performed at both cold t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::62551a4513099ccecfb32ca01fb72d10
https://doi.org/10.1034/j.1600-0838.2001.011001009.x
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3
Pure quadriceps myopathy in two sisters
Autor: I, Mahjneh, H, Somer, A, Paetau, G, Marconi
Publikováno v: European journal of neurology. 10(4)
The authors carried out a clinical, laboratory and muscle computed tomographgy CT follow-up study of 18-21 years on two sisters affected by quadriceps myopathy (QM). The onset in the fourth decade was a weakness in the thighs. During the follow-up st
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::844190035995e78eb2a4a279db42ec05
https://pubmed.ncbi.nlm.nih.gov/12823501
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4
Serum concentrations of collagen degrading enzymes and their inhibitors after downhill running
Autor: S O, Koskinen, M, Höyhtyä, T, Turpeenniemi-Hujanen, V, Martikkala, T T, Mäkinen, J, Oksa, H, Rintamäki, M, Löfberg, H, Somer, T E, Takala
Publikováno v: Scandinavian journal of medicinescience in sports. 11(1)
In the present study the release of proteins degrading extracellular matrix compounds to circulation was measured after damaging exercise in humans. Muscle damage was induced by downhill running; furthermore, the exercise was performed at both cold t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0d3b4939939c59e920b90e6e194d9ba0
https://pubmed.ncbi.nlm.nih.gov/11169229
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5
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease
Autor: A, Suomalainen, A, Majander, M, Wallin, K, Setälä, K, Kontula, H, Leinonen, T, Salmi, A, Paetau, M, Haltia, L, Valanne, J, Lonnqvist, L, Peltonen, H, Somer
Publikováno v: Neurology. 48(5)
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disease characterized by accumulation of multiple large deletions of mtDNA in patients' tissues. We previously showed that the disease is genetically heterogeneous by
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::30d6ba0bc03507fd87d84f90b4e7f269
https://pubmed.ncbi.nlm.nih.gov/9153451
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6
Muscle-eye-brain disease: a neuropathological study
Autor: M, Haltia, I, Leivo, H, Somer, H, Pihko, A, Paetau, T, Kivelä, A, Tarkkanen, F, Tomé, E, Engvall, P, Santavuori
Publikováno v: Annals of neurology. 41(2)
A combination of congenital central nervous, ocular and muscular abnormalities is characteristic of muscle-eye-brain disease (MEB), of Fukuyama congenital muscular dystrophy (FCMD), and of Walker-Warburg syndrome (WWS). The nosological relationship o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::552e8de31f5f3a488d92df4f65e01647
https://pubmed.ncbi.nlm.nih.gov/9029066
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8
Linkage analyses in tibial muscular dystrophy
Autor: Bjarne Udd, H Somer, Leena Peltonen, P. Nokelainen
Publikováno v: Human heredity. 46(2)
Tibial muscular dystrophy (TMD) is a recently described muscular disease first discovered in a highly consanguineous family in Finland. The pedigree also included patients whose symptoms resembled another phenotype, classical limb-girdle muscular dys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd3dd5dae73628ffef7365e5d25b855
https://pubmed.ncbi.nlm.nih.gov/8666419
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