檢索結果 - Tripolszki, Kornelia

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4 由 Tóth, Lola, Fábos, Beáta, Farkas, Katalin, Sulák, Adrienn, Tripolszki, Kornélia, Széll, Márta, Nagy, Nikoletta

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Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort 由 Tripolszki, Kornélia, Gampawar, Piyush, Schmidt, Helena, Nagy, Zsófia F., Nagy, Dóra, Klivényi, Péter, Engelhardt, József I., Széll, Márta

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Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients 由 Obál, Izabella, Nógrádi, Bernát, Meszlényi, Valéria, Patai, Roland, Ricken, Gerda, Kovacs, Gabor G., Tripolszki, Kornélia, Széll, Márta, Siklós, László, Engelhardt, József I.

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High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis 由 Tripolszki, Kornélia, Török, Dóra, Goudenège, David, Farkas, Katalin, Sulák, Adrienn, Török, Nóra, Engelhardt, József I., Klivényi, Péter, Procaccio, Vincent, Nagy, Nikoletta, Széll, Márta

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Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses 由 Tripolszki, Kornélia, Danis, Judit, Padhi, Aditya K., Gomes, James, Bozó, Renáta, Nagy, Zsófia F., Nagy, Dóra, Klivényi, Péter, Engelhardt, József I., Széll, Márta

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Delineating the genetic heterogeneity of OCA in Hungarian patients 由 Fábos, Beáta, Farkas, Katalin, Tóth, Lola, Sulák, Adrienn, Tripolszki, Kornélia, Tihanyi, Mariann, Németh, Réka, Vas, Krisztina, Csoma, Zsanett, Kemény, Lajos, Széll, Márta, Nagy, Nikoletta

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Passive Transfer of Blood Sera from ALS Patients with Identified Mutations Results in Elevated Motoneuronal Calcium Level and Loss of Motor Neurons in the Spinal Cord of Mice 由 Polgár, Tamás F., Meszlényi, Valéria, Nógrádi, Bernát, Körmöczy, Laura, Spisák, Krisztina, Tripolszki, Kornélia, Széll, Márta, Obál, Izabella, Engelhardt, József I., Siklós, László, Patai, Roland

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CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update 由 Nagy, Nikoletta, Vályi, Péter, Csoma, Zsanett, Sulák, Adrienn, Tripolszki, Kornélia, Farkas, Katalin, Paschali, Ekaterine, Papp, Ferenc, Tóth, Lola, Fábos, Beáta, Kemény, Lajos, Nagy, Katalin, Széll, Márta

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Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to... 由 Meszlényi, Valéria, Patai, Roland, Polgár, Tamás F., Nógrádi, Bernát, Körmöczy, Laura, Kristóf, Rebeka, Spisák, Krisztina, Tripolszki, Kornélia, Széll, Márta, Obál, Izabella, Engelhardt, József I., Siklós, László

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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders 由 Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy 由 Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Uğurlu Çi̇men, Deniz, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Ly, Thanh Thao Nguyen, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy 由 Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Çïmen, Deniz Uğurlu, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Nguyen Ly, Thanh Thao, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno

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