Aspirin and Clopidogrel Resistance

Por Sztriha, Laszlo K., Seres, Erika, Sas, Katalin, Vecsei, Laszlo
Publicado no EJIFCC (2004)

Safety and Clinical Outcome of Thrombolysis in Ischaemic Stroke Using a Perfusion CT Mismatch between 3 and 6 Hours

Por Sztriha, Laszlo K., Manawadu, Dulka, Jarosz, Jozef, Keep, Jeff, Kalra, Lalit
Publicado em 2011

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

Por Carter, Jennifer, Zombor, Melinda, Máté, Adrienn, Sztriha, László, Waters, Jonathan J.
Publicado no Case Rep Genet (2016)

Idarucizumab in Dabigatran-Treated Patients with Acute Ischemic Stroke Receiving Alteplase: A Systematic Review of the Available Evidence

Por Pikija, Slaven, Sztriha, Laszlo K., Sebastian Mutzenbach, J., Golaszewski, Stefan M., Sellner, Johann
Publicado no CNS Drugs (2017)

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

Por Saar, Kathrin, Al-Gazali, Lihadh, Sztriha, László, Rueschendorf, Franz, Nur-E-Kamal, Mohammed, Reis, André, Bayoumi, Riad
Publicado em 1999

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

Por Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke
Publicado em 2013

E-learning preferences of European junior neurologists—an EAYNT survey

Por Sztriha, Laszlo K., Varga, Edina T., Róna-Vörös, Krisztina, Holler, Natalja, Ilea, Raluca, Kobeleva, Xenia, Falup-Pecurariu, Cristian, Struhal, Walter, Sellner, Johann
Publicado em 2012

Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3

Por Keeler, Lesley C., Marsh, Sarah E., Leeflang, Esther P., Woods, Christopher G., Sztriha, László, Al-Gazali, Lihadh, Gururaj, Aithala, Gleeson, Joseph G.
Publicado em 2003

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Por Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.
Publicado em 2004

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

Por Kodani, Andrew, Yu, Timothy W, Johnson, Jeffrey R, Jayaraman, Divya, Johnson, Tasha L, Al-Gazali, Lihadh, Sztriha, Lāszló, Partlow, Jennifer N, Kim, Hanjun, Krup, Alexis L, Dammermann, Alexander, Krogan, Nevan J, Walsh, Christopher A, Reiter, Jeremy F
Publicado no eLife (2015)

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Por Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria
Publicado em 2014

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

Por Bielas, Stephanie L., Silhavy, Jennifer L., Brancati, Francesco, Kisseleva, Marina V., Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A., Zaki, Maha S., Abdel-Aleem, Alice, Rosti, Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C., Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J., Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W., Valente, Enza Maria, Gleeson, Joseph G.
Publicado em 2009

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

Por Rudnik-Schöneborn, Sabine, Senderek, Jan, Jen, Joanna C., Houge, Gunnar, Seeman, Pavel, Puchmajerová, Alena, Graul-Neumann, Luitgard, Seidel, Ulrich, Korinthenberg, Rudolf, Kirschner, Janbernd, Seeger, Jürgen, Ryan, Monique M., Muntoni, Francesco, Steinlin, Maja, Sztriha, Laszlo, Colomer, Jaume, Hübner, Christoph, Brockmann, Knut, Van Maldergem, Lionel, Schiff, Manuel, Holzinger, Andreas, Barth, Peter, Reardon, William, Yourshaw, Michael, Nelson, Stanley F., Eggermann, Thomas, Zerres, Klaus
Publicado em 2013

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Por Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève
Publicado no Nat Commun (2015)

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Por Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Publicado no Am J Hum Genet (2015)

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Por Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Publicado no Am J Hum Genet (2015)

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Por Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Publicado em 2012

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Por Eggens, Veerle RC, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James AR, O’Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles BLM, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank
Publicado em 2014

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Por Brancati, Francesco , Barrano, Giuseppe , Silhavy, Jennifer L. , Marsh, Sarah E. , Travaglini, Lorena , Bielas, Stephanie L. , Amorini, Maria , Zablocka, Dominika , Kayserili, Hulya , Al-Gazali, Lihadh , Bertini, Enrico , Boltshauser, Eugen , D’Hooghe, Marc , Fazzi, Elisa , Fenerci, Elif Y. , Hennekam, Raoul C. M. , Kiss, Andrea , Lees, Melissa M. , Marco, Elysa , Phadke, Shubha R. , Rigoli, Luciana , Romano, Stephane , Salpietro, Carmelo D. , Sherr, Elliott H. , Signorini, Sabrina , Stromme, Petter , Stuart, Bernard , Sztriha, Laszlo , Viskochil, David H. , Yuksel, Adnan , Dallapiccola, Bruno , Valente, Enza Maria , Gleeson, Joseph G. 
Publicado em 2007