Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

por Dohrn, Maike F., Beijer, Danique, Mulahasanovic, Lejla
Publicado 2022

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

por Thomas, Christian, Zühlsdorf, Andrea, Hörtnagel, Konstanze, Mulahasanovic, Lejla, Grauer, Oliver M., Kümpers, Philipp, Wiendl, Heinz, Meuth, Sven G.
Publicado 2018

CDHR1 mutations in retinal dystrophies

por Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2017

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

por Dohrn, Maike F., Heller, Corina, Zengeler, Diana, Obermaier, Carolin D., Biskup, Saskia, Weis, Joachim, Nikolin, Stefan, Claeys, Kristl G., Schöne, Ulrike, Beijer, Danique, Winter, Natalie, Achenbach, Pascal, Gess, Burkhard, Schulz, Jörg B., Mulahasanovic, Lejla
Publicado 2022

Stx4 is required to regulate cardiomyocyte Ca(2+) handling during vertebrate cardiac development

por Perl, Eliyahu, Ravisankar, Padmapriyadarshini, Beerens, Manu E., Mulahasanovic, Lejla, Smallwood, Kelly, Sasso, Marion Bermúdez, Wenzel, Carina, Ryan, Thomas D., Komár, Matej, Bove, Kevin E., MacRae, Calum A., Weaver, K. Nicole, Prada, Carlos E., Waxman, Joshua S.
Publicado 2022

Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data

por Kushniarevich, Alena, Utevska, Olga, Chuhryaeva, Marina, Agdzhoyan, Anastasia, Dibirova, Khadizhat, Uktveryte, Ingrida, Möls, Märt, Mulahasanovic, Lejla, Pshenichnov, Andrey, Frolova, Svetlana, Shanko, Andrey, Metspalu, Ene, Reidla, Maere, Tambets, Kristiina, Tamm, Erika, Koshel, Sergey, Zaporozhchenko, Valery, Atramentova, Lubov, Kučinskas, Vaidutis, Davydenko, Oleg, Goncharova, Olga, Evseeva, Irina, Churnosov, Michail, Pocheshchova, Elvira, Yunusbayev, Bayazit, Khusnutdinova, Elza, Marjanović, Damir, Rudan, Pavao, Rootsi, Siiri, Yankovsky, Nick, Endicott, Phillip, Kassian, Alexei, Dybo, Anna, Tyler-Smith, Chris, Balanovska, Elena, Metspalu, Mait, Kivisild, Toomas, Villems, Richard, Balanovsky, Oleg
Publicado 2015

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

por Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B.S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne
Publicado 2022

Genomic analyses inform on migration events during the peopling of Eurasia

por Pagani, Luca, Lawson, Daniel John, Jagoda, Evelyn, Mörseburg, Alexander, Eriksson, Anders, Mitt, Mario, Clemente, Florian, Hudjashov, Georgi, DeGiorgio, Michael, Saag, Lauri, Wall, Jeffrey D., Cardona, Alexia, Mägi, Reedik, Wilson Sayres, Melissa A., Kaewert, Sarah, Inchley, Charlotte, Scheib, Christiana L., Järve, Mari, Karmin, Monika, Jacobs, Guy S., Antao, Tiago, Iliescu, Florin Mircea, Kushniarevich, Alena, Ayub, Qasim, Tyler-Smith, Chris, Xue, Yali, Yunusbayev, Bayazit, Tambets, Kristiina, Mallick, Chandana Basu, Saag, Lehti, Pocheshkhova, Elvira, Andriadze, George, Muller, Craig, Westaway, Michael C., Lambert, David M., Zoraqi, Grigor, Turdikulova, Shahlo, Dalimova, Dilbar, Sabitov, Zhaxylyk, Sultana, Gazi Nurun Nahar, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Isakova, Jainagul, Damba, Larisa D., Gubina, Marina, Nymadawa, Pagbajabyn, Evseeva, Irina, Atramentova, Lubov, Utevska, Olga, Ricaut, François-Xavier, Brucato, Nicolas, Sudoyo, Herawati, Letellier, Thierry, Cox, Murray P., Barashkov, Nikolay A., Skaro, Vedrana, Mulahasanovic, Lejla, Primorac, Dragan, Sahakyan, Hovhannes, Mormina, Maru, Eichstaedt, Christina A., Lichman, Daria V., Abdullah, Syafiq, Chaubey, Gyaneshwer, Wee, Joseph T. S., Mihailov, Evelin, Karunas, Alexandra, Litvinov, Sergei, Khusainova, Rita, Ekomasova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Marjanović, Damir, Yepiskoposyan, Levon, Behar, Doron M., Balanovska, Elena, Metspalu, Andres, Derenko, Miroslava, Malyarchuk, Boris, Voevoda, Mikhail, Fedorova, Sardana A., Osipova, Ludmila P., Lahr, Marta Mirazón, Gerbault, Pascale, Leavesley, Matthew, Migliano, Andrea Bamberg, Petraglia, Michael, Balanovsky, Oleg, Khusnutdinova, Elza K., Metspalu, Ene, Thomas, Mark G., Manica, Andrea, Nielsen, Rasmus, Villems, Richard, Willerslev, Eske, Kivisild, Toomas, Metspalu, Mait
Publicado 2016