Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4

por Tóth, Lola, Fábos, Beáta, Farkas, Katalin, Sulák, Adrienn, Tripolszki, Kornélia, Széll, Márta, Nagy, Nikoletta
Publicado 2017

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

por Tripolszki, Kornélia, Gampawar, Piyush, Schmidt, Helena, Nagy, Zsófia F., Nagy, Dóra, Klivényi, Péter, Engelhardt, József I., Széll, Márta
Publicado 2019

Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients

por Obál, Izabella, Nógrádi, Bernát, Meszlényi, Valéria, Patai, Roland, Ricken, Gerda, Kovacs, Gabor G., Tripolszki, Kornélia, Széll, Márta, Siklós, László, Engelhardt, József I.
Publicado 2019

High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

por Tripolszki, Kornélia, Török, Dóra, Goudenège, David, Farkas, Katalin, Sulák, Adrienn, Török, Nóra, Engelhardt, József I., Klivényi, Péter, Procaccio, Vincent, Nagy, Nikoletta, Széll, Márta
Publicado 2017

Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses

por Tripolszki, Kornélia, Danis, Judit, Padhi, Aditya K., Gomes, James, Bozó, Renáta, Nagy, Zsófia F., Nagy, Dóra, Klivényi, Péter, Engelhardt, József I., Széll, Márta
Publicado 2019

Delineating the genetic heterogeneity of OCA in Hungarian patients

por Fábos, Beáta, Farkas, Katalin, Tóth, Lola, Sulák, Adrienn, Tripolszki, Kornélia, Tihanyi, Mariann, Németh, Réka, Vas, Krisztina, Csoma, Zsanett, Kemény, Lajos, Széll, Márta, Nagy, Nikoletta
Publicado 2017

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

por Polgár, Tamás F., Meszlényi, Valéria, Nógrádi, Bernát, Körmöczy, Laura, Spisák, Krisztina, Tripolszki, Kornélia, Széll, Márta, Obál, Izabella, Engelhardt, József I., Siklós, László, Patai, Roland
Publicado 2021

CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

por 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
Publicado 2014

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...

por 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
Publicado 2020

Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema

por Iuraşcu, Marius‐Ionuţ, Balla, Zsuzsanna, Pereira, Catarina, Andrási, Noémi, Varga, Lilian, Csuka, Dorottya, Szilágyi, Ágnes, Tripolszki, Kornelia, Khan, Suliman, Susnea, Iuliana, Bauer, Peter, Cozma, Claudia, Farkas, Henriette
Publicado 2023

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

por Kraatari‐Tiri, Minna, Soikkonen, Leila, Myllykoski, Matti, Jamshidi, Yalda, Karimiani, Ehsan G., Komulainen‐Ebrahim, Jonna, Kallankari, Hanna, Mignot, Cyril, Depienne, Christel, Keren, Boris, Nougues, Marie‐Christine, Alsahlawi, Zahra, Romito, Antonio, Martini, Javier, Toosi, Mehran B., Carroll, Christopher J., Tripolszki, Kornelia, Bauer, Peter, Uusimaa, Johanna, Bertoli‐Avella, Aida M., Koivunen, Peppi, Rahikkala, Elisa
Publicado 2022

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

por 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
Publicado 2021

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

por Bertoli-Avella, Aida, Hotakainen, Ronja, Al Shehhi, Maryam, Urzi, Alice, Pareira, Catarina, Marais, Anett, Al Shidhani, Khoula, Aloraimi, Sumaya, Morales-Torres, Galina, Fisher, Steffen, Demuth, Laura, Moteleb Selim, Laila Abdel, Al Menabawy, Nihal, Busehail, Maryam, AlShaikh, Mohammed, Gilani, Naser, Chalabi, Dler Nooruldeen, Alharbi, Nasser S, Alfadhel, Majid, Abdelrahman, Mohammed, Venselaar, Hanka, Anjum, Nadeem, Saeed, Anjum, Alghamdi, Malak Ali, Aljaedi, Hamad, Arabi, Hisham, Karageorgou, Vasiliki, Khan, Suliman, Hajjari, Zahra, Radefeldt, Mandy, Al-Ali, Ruslan, Tripolszki, Kornelia, Jamhawi, Amer, Paknia, Omid, Cozma, Claudia, Cheema, Huma, Ameziane, Najim, Al-Muhsen, Saleh, Bauer, Peter
Publicado 2022