Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

Autor: CAM Koriath, F Guntotoi, P Norseworthy, E Dolzhenko, MA Eberle, DJ Hensman Moss, M Flower, H Hummerich, A Rosser, SJ Tabrizi, S Mead, E Wild

When the genetic test for the Huntington’s disease (HD) HTT expansion first became available almost 30 years ago, only 1% of patients tested negative. Since then, the test has become more accessible and the HD phenotype has expanded. More patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4945dd5bf800fcd5b51604e6a629c1cc
https://doi.org/10.1101/2022.09.23.509161

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Contents Vol. 86, 1999

Autor: D. Quincey, Y.-O. Kim, N. Sato, T. Leeb, L.J. Conner, A. Veronese, H. Satoh, C.G. Jakobsen, L. Martins, S.E. Hayes, E. Gentile, Manfred Gessler, F. Hosoda, M. Kinebuchi, C. Lemercier, O. Marcu, K. Hoehn, S.-Y. Park, T. Hardt, G. Barbanti-Brodano, F. Yang, Mariano Rocchi, Masanori Hatakeyama, T. Torii, T. Kitamura, N. Serakıncı, W. Mann, S. Osborne Lawrence, B. Brenig, D.G. Stathakis, H.-J. Koh, E. Verdin, Y. Franke, Masaki Okano, G. Pottier, K. Amimoto, Grant C. Sellar, N. Spieker, P.A. Martin-DeLeon, A. Strub, E. Li, M.-D. Devignes, X. Reveles, C. Roussakis, P. Grossfeld, N. Miyasaka, L.F.M. van Zutphen, S.A.N. Goldstein, M. Lepke, A. Tunnacliffe, G.N. Hendy, N.A. Manjunath, X. Deng, K. Georgas, U. Mahlknecht, K. Kikuchi, U. Sohn, A. Fogli, P.J. Yarowsky, P.C.M. O’Brien, W. Van Hul, T. Kozaki, L. Burridge, W. Wuyts, D. Masson, S. Forbes, J.P. Murnane, J. Stamberg, L. Viggiano, R. Favier, H. Kawakami, N. Katsanis, Matthew Breen, L.E. Stramm, L. Reid, P. Lustenberger, H.-H. Ropers, M. Athanasiou, S. Grimmond, K. Smith, M. Schmid, J.-Å. Gustafsson, D.S. Gerhard, J. Cruces, H. Narimatsu, J.L. Marsh, C-C. Hu, S. Katabami, Katsuzumi Okumura, L.A. Rethy, Y.-J. Kang, C.N. Sprung, B. Zabel, V. Bhide, P. Taschner, M. Trubia, S.-H. Kim, T. Haaf, Teijiro Aso, P.G. Gallagher, Marcel M.A.M. Mannens, T. Shiina, P.A. Ioannou, E. Schuuring, M.A. Ferguson-Smith, K. Yamada, R.J. Peoples, H. Inoko, D. Hoelzer, Y.-K. Wang, S. Stilgenbauer, R. Carrozzo, W. Rens, J. Harris, K. Yuri, E. Karayianni, A. De Paepe, T. Taguchi, H. Iwasaki, K. Krejčí, D. Carbonnelle, M. Hattori, L.A. Pérez Jurado, G. Gaudray, M.C. Yoshida, J. Justesen, G.F. Carle, I. Nanda, H.C. Au, M. Zollo, Veronica van Heyningen, J.T. Mascarello, R. Bucala, S.-H. Park, L.L. Hansen, S. Takai, Y. Shi, T. Kudo, M. Ohki, S. Raynaud, T. Watanabe, C. Turc-Carel, C.L. Pin, R. Korstanje, G. Chenevix-Trench, T. Miyachi, N. Van Roy, D.H. Spathas, C. Jacquot, M. Kaneko, C. Talbot, C. Magnanini, F.A. Ponce de León, Rogier Versteeg, Barbara R. DuPont, Glen A. Evans, R. Koike, R. Taramelli, H.-Z. Chen, N.A. Jenkins, C. Morelli, Shin-ichiro Takebayashi, Franki Speleman, P. Zisimopoulou, H. Hummerich, G.P. Holmes, A. Matsuura, H.A. van Lith, V. Orphanos, T. Kuramoto, P. Gaudray, T.K. Watanabe, T. Iizuka, D.J. Gilbert, S. Nakamura, F. Grummt, I.E. Scheffler, A.A. Bosma, M. Tixier-Boichard, C. Berger, C. Desmaze, H. Maruyama, Melissa H. Little, C. Alberti, F. Parente, G. Arrigo, K. De Boulle, N.G. Copeland, M. Selkirk, T. Mattina, M. Rosati, L. Sabatier, A. Calender, S.F. Konieczny, S. Sabbioni, Jet Bliek, M. James, M. Gordon, S. Giglio, Peter Little, T. Liehr, L. Canaff, N. Saitou, P.J. Willems, M.G. Denis, G.M. Maniatis, Nicoletta Archidiacono, L.V. Debelenko, O. Zuffardi, J.P. Simmer, J.J. Bitgood, K. Ladjali-Mohammedi, T. Thangarajah, B. Gawin, H. Himmelbauer, C. Lo Nigro, U. Francke, T.-L. Huh, M. Horie, C.M. Croce, J. Strovel, C. Staib, P. Bray-Ward, G. Weber, J. Koch, K. Kitada, Giovanna Grimaldi, J. Kalla, T. Serikawa, M. Negrini

Publikováno v: Cytogenetic and Genome Research. 86:340-342

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c46f621c5834b52a226e5239082141a
https://doi.org/10.1159/000015334

Mitochondrial metabolism in different thyroid states

Autor: C Horst, J P Schumacher, Hans J. Seitz, H Hummerich, S Soboll

Publikováno v: Biochemical Journal. 281:171-173

The protonmotive force, as well as the mitochondrial and cytosolic concentrations of malate, 2-oxoglutarate, glutamate and aspartate, were determined in livers from hypo-, eu- and hyper-thyroid rats, by density-gradient centrifugation of freeze-clamp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb15e6fb6be6d0f5e38448e816af5a62
https://doi.org/10.1042/bj2810171

Subject Index Vol. 86, 1999

Autor: K. Smith, T. Shiina, E. Karayianni, N. Katsanis, C-C. Hu, D. Quincey, W. Wuyts, Giovanna Grimaldi, C. Alberti, M. Kaneko, L. Viggiano, D.S. Gerhard, Jet Bliek, M. Hatakeyama, M. Athanasiou, J. Cruces, R. Carrozzo, Rogier Versteeg, Barbara R. DuPont, P. Lustenberger, Manfred Gessler, X. Reveles, D.G. Stathakis, T. Taguchi, Y.-O. Kim, G. Arrigo, K. Hoehn, N. Sato, E. Gentile, J. Strovel, S. Grimmond, K. Okumura, R. Koike, Y. Franke, T. Leeb, L.J. Conner, A. Veronese, M. James, H. Satoh, H. Narimatsu, F. Yang, R. Taramelli, V. Bhide, N.G. Copeland, P. Taschner, H. Kawakami, C. Staib, W. Mann, E. Schuuring, S. Osborne Lawrence, H. Inoko, J. Kalla, I. Nanda, T. Torii, K. Georgas, P.A. Ioannou, P.G. Gallagher, A. Fogli, P.J. Yarowsky, T. Aso, C.G. Jakobsen, T. Serikawa, M. Negrini, K. Amimoto, F. Grummt, T. Kitamura, C. Lemercier, S.F. Konieczny, U. Mahlknecht, N. Spieker, J.L. Marsh, Y.-J. Kang, T. Haaf, G.M. Maniatis, K. Yamada, K. De Boulle, T. Kozaki, L. Burridge, S. Nakamura, U. Sohn, G. Pottier, L. Martins, A.A. Bosma, Nicoletta Archidiacono, T. Hardt, L. Reid, M. Rosati, G. Barbanti-Brodano, J. Stamberg, Grant C. Sellar, C. Desmaze, G.N. Hendy, H. Maruyama, L.V. Debelenko, I.E. Scheffler, H.C. Au, E. Verdin, O. Marcu, C. Roussakis, D. Hoelzer, M. Zollo, A. Strub, E. Li, K. Kikuchi, S.-H. Kim, D. Carbonnelle, B. Zabel, P. Grossfeld, P.C.M. O’Brien, W. Van Hul, T. Kudo, N.A. Jenkins, L.A. Pérez Jurado, F. Parente, S.E. Hayes, F. Hosoda, R.J. Peoples, M. Hattori, A. Tunnacliffe, O. Zuffardi, M. Gordon, S. Giglio, J. Harris, N.A. Manjunath, C.L. Pin, R. Korstanje, Peter Little, K. Yuri, A. De Paepe, G. Chenevix-Trench, H.-H. Ropers, J.P. Simmer, J.J. Bitgood, A. Calender, C. Lo Nigro, J.T. Mascarello, C.N. Sprung, M. Ohki, Mariano Rocchi, M.C. Yoshida, J. Justesen, T. Liehr, T. Miyachi, S. Takai, G.F. Carle, K. Ladjali-Mohammedi, T. Thangarajah, L. Canaff, Marcel M.A.M. Mannens, M. Tixier-Boichard, N. Saitou, M. Selkirk, C. Turc-Carel, M. Horie, C.M. Croce, C. Berger, M. Lepke, S. Forbes, B. Gawin, H. Himmelbauer, M.A. Ferguson-Smith, T. Iizuka, Glen A. Evans, N. Van Roy, Melissa H. Little, Y.-K. Wang, M. Kinebuchi, P.J. Willems, M.G. Denis, T. Mattina, H.-Z. Chen, U. Francke, S.-H. Park, T.-L. Huh, L.F.M. van Zutphen, B. Brenig, M. Okano, P.A. Martin-DeLeon, M.-D. Devignes, N. Miyasaka, S.-Y. Park, Matthew Breen, H.-J. Koh, X. Deng, H.A. van Lith, L. Sabatier, T. Kuramoto, M. Schmid, C. Talbot, C. Magnanini, S. Sabbioni, J.P. Murnane, R. Favier, L.E. Stramm, J.-Å. Gustafsson, L.A. Rethy, W. Rens, K. Krejčí, L.L. Hansen, Shin-ichiro Takebayashi, H. Hummerich, R. Bucala, Y. Shi, D.H. Spathas, C. Jacquot, F.A. Ponce de León, G.P. Holmes, A. Matsuura, V. Orphanos, M. Trubia, S. Stilgenbauer, P. Gaudray, T.K. Watanabe, D.J. Gilbert, P. Bray-Ward, G. Weber, J. Koch, K. Kitada, H. Iwasaki, G. Gaudray, S. Katabami, S. Raynaud, T. Watanabe, C. Morelli, Veronica van Heyningen, Franki Speleman, P. Zisimopoulou, N. Serakıncı, S.A.N. Goldstein, D. Masson

Publikováno v: Cytogenetic and Genome Research. 86:338-339

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8bd888ca6b7b04be380725e5ed27c763
https://doi.org/10.1159/000015333