检索结果 - Press, Rayomand
- Showing 1 - 11 results of 11
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The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C 由 Skott, Humberto, Muntean-Firanescu, Cristina, Samuelsson, Kristin, Verrecchia, Luca, Svenningsson, Per, Malmgren, Helena, Cananau, Carmen, Espay, Alberto J., Press, Rayomand, Solders, Göran, Paucar, Martin
出版 2019Text -
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Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy 由 Bruhn, Helene, Samuelsson, Kristin, Schober, Florian A., Engvall, Martin, Lesko, Nicole, Wibom, Rolf, Nennesmo, Inger, Calvo-Garrido, Javier, Press, Rayomand, Stranneheim, Henrik, Freyer, Christoph, Wedell, Anna, Wredenberg, Anna
出版 2021Text -
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Homozygous SMN2 deletion is a protective factor in the Swedish ALS population 由 Corcia, Philippe, Ingre, Caroline, Blasco, Helene, Press, Rayomand, Praline, Julien, Antar, Catherine, Veyrat-Durebex, Charlotte, Guettard, Yves-Olivier, Camu, William, Andersen, Peter M, Vourc'h, Patrick, Andres, Christian R
出版 2012Text -
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A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts 由 Ingre, Caroline, Landers, John E., Rizik, Naji, Volk, Alexander E., Akimoto, Chizuru, Birve, Anna, Hübers, Annemarie, Keagle, Pamela J., Piotrowska, Katarzyna, Press, Rayomand, Andersen, Peter Munch, Ludolph, Albert C., Weishaupt, Jochen H.
出版 2012Text -
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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations 由 Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, Stevanin, Giovanni
出版 2021Text