検索結果 - Schimpf-Linzenbold, Simone

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports 著者: Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole

全文の入手 全文の入手 全文の入手

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies 著者: Nowomiejska, Katarzyna, Nasser, Fadi, Stingl, Katarina, Schimpf-Linzenbold, Simone, Biskup, Saskia, Brzozowska, Agnieszka, Rejdak, Robert, Kohl, Susanne, Zrenner, Eberhart

全文の入手 全文の入手 全文の入手

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases 著者: Llavona, Pablo, Pinelli, Michele, Mutarelli, Margherita, Singh Marwah, Veer, Schimpf-Linzenbold, Simone, Thaler, Sebastian, Yoeruek, Efdal, Vetter, Jan, Kohl, Susanne, Wissinger, Bernd

全文の入手 全文の入手 全文の入手

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants 著者: Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd

全文の入手 全文の入手 全文の入手

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy 著者: Neumann, Marie Anne-Catherine, Grossmann, Dajana, Schimpf-Linzenbold, Simone, Dayan, Dana, Stingl, Katarina, Ben-Menachem, Reut, Pines, Ophry, Massart, François, Delcambre, Sylvie, Ghelfi, Jenny, Bohler, Jill, Strom, Tim, Kessel, Amit, Azem, Abdussalam, Schöls, Ludger, Grünewald, Anne, Wissinger, Bernd, Krüger, Rejko

全文の入手 全文の入手 全文の入手

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy 著者: Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy

全文の入手 全文の入手 全文の入手