еНаука - преглед
Преглед према Аутор Westenberger, Ana
Приказ резултата 1 до 10 од 10
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2014 | De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient | Dobričić, Valerija; Kresojević, Nikola  ; Westenberger, Ana; Svetel, Marina  ; Tomić, Aleksandra ; Ralić, Vesna; Petrović, Igor ; Lukić, Milica Ječmenica ; Lohmann, Katja; Novaković, Ivana ;
Klein, Christine; Kostić, Vladimir
; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2017 | GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia | Dobričić, Valerija; Tomić, Aleksandra ; Branković, Vesna; Kresojević, Nikola ; Janković, Milena ; Westenberger, Ana; Milić Rašić, Vedrana ; Klein, Christine; Novaković, Ivana ; Svetel, Marina ;
Kostić, Vladimir
; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2013 | Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? | Lohmann, Katja; Schmidt, Alexander; Schillert, Arne; Winkler, Susen; Albanese, Alberto; Baas, Frank; Bentivoglio, Anna Rita; Borngräber, Friederike; Brüggemann, Norbert; Defazio, Giovanni;
Del, Sorbo Francesca; Deuschl, Günther; Edwards, Mark J.; Gasser, Thomas; Gómez-Garre, Pilar; Graf, Julia; Groen, Justus L.; Grünewald, Anne; Hagenah, Johann; Hemmelmann, Claudia; Jabusch, Hans-Christian; Kaji, Ryuji; Kasten, Meike; Kawakami, Hideshi; Kostić, Vladimir
; Liguori, Maria; Mir, Pablo; Münchau, Alexander; Ricchiuti, Felicia; Schreiber, Stefan; Siegesmund, Katharina; Svetel, Marina ; Tijssen, Marina A.J.; Valente, Enza Maria; Westenberger, Ana; Zeuner, Kirsten E.; Zittel, Simone; Altenmüller, Eckart; Ziegler, Andreas; Klein, Christine; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2014 | Mutations in GNAL: a novel cause of craniocervical dystonia | Kumar, Kishore R.; Lohmann, Katja; Masuho, Ikuo; Miyamoto, Ryosuke; Ferbert, Andreas; Lohnau, Thora; Kasten, Meike; Hagenah, Johann; Brüggemann, Norbert; Graf, Julia;
Münchau, Alexander; Kostić, Vladimir
; Sue, Carolyn M.; Domingo, Aloysius R.; Rosales, Raymond L.; Lee, Lilian V.; Freimann, Karen; Westenberger, Ana; Mukai, Youhei; Kawarai, Toshitaka; Kaji, Ryuji; Klein, Christine; Martemyanov, Kirill A.; Schmidt, Alexander; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2013 | Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice | Keller, Annika; Westenberger, Ana; Sobrido, Maria J; García-Murias, Maria; Domingo, Aloysius; Sears, Renee L; Lemos, Roberta R; Ordoñez-Ugalde, Andres; Nicolas, Gael; da, Cunha José E Gomes;
Rushing, Elisabeth J; Hugelshofer, Michael; Wurnig, Moritz C; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobričić, Valerija; Carracedo, Angel; Petrović, Igor
; Miyasaki, Janis M; Abakumova, Irina; Mäe, Maarja Andaloussi; Raschperger, Elisabeth; Zatz, Mayana; Zschiedrich, Katja; Klepper, Jörg; Spiteri, Elizabeth; Prieto, Jose M; Navas, Inmaculada; Preuss, Michael; Dering, Carmen; Janković, Milena; Paucar, Martin; Svenningsson, Per; Saliminejad, Kioomars; Khorshid, Hamid R K; Novaković, Ivana; Aguzzi, Adriano; Boss, Andreas; Le, Ber Isabelle; Defer, Gilles; Hannequin, Didier; Kostić, Vladimir ; Campion, Dominique; Geschwind, Daniel H; Coppola, Giovanni; Betsholtz, Christer; Klein, Christine; Oliveira, Joao R M; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2014 | Novel GNAL Mutations in Two German Patients With Sporadic Dystonia | Ziegan, Julia; Wittstock, Matthias; Westenberger, Ana; Dobricic, Valerija S; Wolters, Alexander; Benecke, Reiner; Klein, Christine; Kamm, Christoph | Информативни прилог | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2017 | Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans | Lohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Hüning, Irina;
Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savić Pavićević, Dušanka
; Münchau, Alexander; Oprea, Gabriela; Klein, Christine; Rolfs, Arndt; Martemyanov, Kirill A.; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2015 | Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited (✓) | Dobričić, Valerija ; Kresojević, Nikola ; Žarković, Milena; Tomić, Aleksandra ; Marjanović, Ana ; Westenberger, Ana; Cvetković, Dragana ; Svetel, Marina ; Novaković, Ivana ; Kostić, Vladimir | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2016 | Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia | Mišković, Nataša Dragašević; Domingo, Aloysius; Dobričić, Valerija; Max, Christoph; Braenne, Ingrid; Petrović, Igor ; Grütz, Karen; Pawlack, Heike; Tournev, Ivailo; Kalaydjieva, Luba;
Svetel, Marina
; Lohmann, Katja; Kostić, Vladimir ; Westenberger, Ana; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2018 | WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype | Kulikovskaja, Leonora; Sarajlija, Adrijan ; Savić Pavićević, Dušanka ; Dobricic, Valerija; Klein, Christine; Westenberger, Ana | Научни чланак | Мп категорија ће бити приказана накнадно. |