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Results: 1-15 |
Results: 15
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
Authors: Lund, A Udd, B Juvonen, V Andersen, PM Cederquist, K Davis, M Gellera, C Kolmel, C Ronnevi, LO Sperfeld, AD Sorensen, SA Tranebjaerg, L Van Maldergem, L Watanabe, M Weber, M Yeung, L Savontaus, ML
Citation: A. Lund et al., Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world, EUR J HUM G, 9(6), 2001, pp. 431-436
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation
Authors: Tuominen, S Juvonen, V Amberla, K Jolma, T Rinne, JO Tuisku, S Kurki, T Marttila, R Poyhonen, M Savontaus, ML Viitanen, M Kalimo, H
Citation: S. Tuominen et al., Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation, STROKE, 32(8), 2001, pp. 1767-1774
A signal, from human mtDNA, of postglacial recolonization in Europe
Authors: Torroni, A Bandelt, HJ Macaulay, V Richards, M Cruciani, F Rengo, C Martinez-Cabrera, V Villems, R Kivisild, T Metspalu, E Parik, JR Tolk, HV Tambets, K Forster, P Karger, B Francalacci, P Rudan, P Janicijevic, B Rickards, O Savontaus, ML Huoponen, K Laitinen, V Koivumaki, S Sykes, B Hickey, E Novelletto, A Moral, P Sellitto, D Coppa, A Al-Zaheri, N Santachiara-Benerecetti, AS Semino, O Scozzari, R
Citation: A. Torroni et al., A signal, from human mtDNA, of postglacial recolonization in Europe, AM J HU GEN, 69(4), 2001, pp. 844-852
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia
Authors: Lund, A Udd, B Juvonen, V Andersen, PM Cederquist, K Ronnevi, LO Sistonen, P Sorensen, SA Tranebjaerg, L Wallgren-Pettersson, C Savontaus, ML
Citation: A. Lund et al., Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia, EUR J HUM G, 8(8), 2000, pp. 631-636
Functional analysis of novel mutations in y(+)LAT-1 amino acid transportergene causing lysinuric protein intolerance (LPI)
Authors: Mykkanen, J Torrents, D Pineda, M Camps, M Yoldi, ME Horelli-Kuitunen, N Huoponen, K Heinonen, M Oksanen, J Simell, O Savontaus, ML Zorzano, A Palacin, M Aula, P
Citation: J. Mykkanen et al., Functional analysis of novel mutations in y(+)LAT-1 amino acid transportergene causing lysinuric protein intolerance (LPI), HUM MOL GEN, 9(3), 2000, pp. 431-438
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion
Authors: Juvonen, V Hietala, M Paivarinta, M Rantamaki, M Hakamies, L Kaakkola, S Vierimaa, O Penttinen, M Savontaus, ML
Citation: V. Juvonen et al., Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion, ANN NEUROL, 48(3), 2000, pp. 354-361
MtDNA polymorphism in the Hungarians: comparison to three other Finno-Ugric-speaking populations
Authors: Lahermo, P Laitinen, V Sistonen, P Beres, J Karcagi, V Savontaus, ML
Citation: P. Lahermo et al., MtDNA polymorphism in the Hungarians: comparison to three other Finno-Ugric-speaking populations, HEREDITAS, 132(1), 2000, pp. 35-42
mtDNA haplogroups and frequency patterns in Europe
Authors: Torroni, A Richards, M Macaulay, V Forster, P Villems, R Norby, S Savontaus, ML Huoponen, K Scozzari, R Bandelt, HJ
Citation: A. Torroni et al., mtDNA haplogroups and frequency patterns in Europe, AM J HU GEN, 66(3), 2000, pp. 1173-1177
Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene
Authors: Torrents, D Mykkanen, J Pineda, M Feliubadalo, L Estevez, R de Cid, R Sanjurjo, P Zorzano, A Nunes, V Huoponen, K Reinikainen, A Simell, O Savontaus, ML Aula, P Palacin, M
Citation: D. Torrents et al., Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene, NAT GENET, 21(3), 1999, pp. 293-296
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami
Authors: Lahermo, P Savontaus, ML Sistonen, P Beres, J de Knijff, P Aula, P Sajantila, A
Citation: P. Lahermo et al., Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami, EUR J HUM G, 7(4), 1999, pp. 447-458
Coagulation factor V Leiden mutation in sudden fatal pulmonary embolism and in a general northern European population sample
Authors: Kuismanen, K Savontaus, ML Kozlov, A Vuorio, AF Sajantila, A
Citation: K. Kuismanen et al., Coagulation factor V Leiden mutation in sudden fatal pulmonary embolism and in a general northern European population sample, FOREN SCI I, 106(2), 1999, pp. 71-75
CADASIL: hereditary disease of arteries causing brain infarcts and dementia
Authors: Kalimo, H Viitanen, M Amberla, K Juvonen, V Marttila, R Poyhonen, M Rinne, JO Savontaus, ML Tuisku, S Winblad, B
Citation: H. Kalimo et al., CADASIL: hereditary disease of arteries causing brain infarcts and dementia, NEUROP AP N, 25(4), 1999, pp. 257-265
Origin of Finnish mutations causing aspartylglucosaminuria
Authors: Valkonen, S Hietala, M Savontaus, ML Aula, P
Citation: S. Valkonen et al., Origin of Finnish mutations causing aspartylglucosaminuria, HEREDITAS, 131(3), 1999, pp. 191-195
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11
Authors: Lauteala, T Mykkanen, J Horelli-Kuitunen, N Aaltonen, J Paavola, P Savontaus, ML Simell, O Aula, P
Citation: T. Lauteala et al., Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11, HEREDITAS, 130(1), 1999, pp. 19-24
Genetic homogeneity of lysinuric protein intolerance
Authors: Lauteala, T Mykkanen, J Sperandeo, MP Gasparini, P Savontaus, ML Simell, O Andria, G Sebastio, G Aula, P
Citation: T. Lauteala et al., Genetic homogeneity of lysinuric protein intolerance, EUR J HUM G, 6(6), 1998, pp. 612-615
Risultati: 1-15 |