Parkinson’s Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care
Ganieva, Manizha, Rasulova, Khurshidakhon, Houlden, Henry, Khaibullin, Talgat, Karimova, Altynay, Kaishibayeva, Gulnaz, Shashkin, Chingiz, Zharkinbekova, Nazira, Aitkulova, Akbota, Rizig, Mie, Kaiyrzhanov, Rauan, Sadykova, Dinara
Published in Parkinson's disease (2019)
Published in Parkinson's disease (2019)
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Published in Nature communications (12.07.2019)
Published in Nature communications (12.07.2019)
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A biobank for Parkinson's disease and atypical parkinsonism in central Asian and Transcaucasian regions
Kaiyrzhanov, Rauan, Zharkinbekova, Nazira, Abdraimova, Saltanat, Shashkin, Chingiz, Myrzayev, Zhanybek, Karimova, Altynay, Beridze, Maia, Sopromadze, Sophia, Khatiashvilli, Irine, Tavadyan, Zaruhi, Khachatryan, Samson, Isayan, Mariam, Kekenadze, Mariam, Megrelishvili, Marika, Mshvenieradze, Mariam, Kaishibayeva, Gulnaz, Shiderova, Guzel, Akhmetzhanov, Vadim, Aidarov, Seitzhan, Alzhanova, Dinara, Syzdykova, Bagzhan, Tautanova, Raushan, Yermagambetova, Aigul P., Utegenova, Aigerim B., Khamidulla, Alima A., Urasheva, Zhanylsyn U., Kabdrakhmanova, Gulnar B., Khaibullin, Talgat, Talgatkyzy, Altynay, Ganieva, Manizha, Isrofilov, Maksudjon, Jafarov, Kanan, Gilyazova, Irina, Khidiyatova, Irina, Khusnutdinova, Elza, Akhmadeeva, Gulnara, Gareeva, Anna, Tsiskaridze, Alexander, Escott-Price, Valentina, Hardy, John, Houlden, Henry, Kaiyrzhanov, Rauan
Published in Lancet neurology (01.09.2024)
Published in Lancet neurology (01.09.2024)
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Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
Kaiyrzhanov, Rauan, Ortigoza‐Escobar, Juan Darío, Stringer, Brett W., Ganieva, Manizha, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al‐Shammari, Randa, Al‐Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor, Akram, Rabia, Hussain, Ghulam, Baig, Shahid Mahmood, Iqbal, Javed, Salpietro, Vincenzo, Neshatdoust, Maedeh, Kasiri, Mahboubeh, Yesil, Gozde, Uygur, Turkan, Pysden, Karen, Berry, Ian R., Alves, Cesar Augusto, Giacomotto, Jean, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (01.06.2024)
Published in Movement disorders (01.06.2024)
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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