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Research outputs

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions [2017]

Pešović, Jovan ; Perić, Stojan ; Brkušanin, Miloš ; Brajušković, Goran ; Rakočević-Stojanović, Vidosava ; Savić-Pavićević, Dušanka

DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery [2024]

Diaw, Sokhna Haissatou; Delcambre, Sylvie; Much, Christoph; Ott, Fabian; Kostic, Vladimir S; Gajos, Agata; Muenchau, Alexander; Zittel, Simone; Busch, Hauke; Gruenewald, Anne;

Klein, Christine; Lohmann, Katja;

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities [2014]

Salvarinova, Ramona; Ye, Cynthia X.; Rossi, Andrea; Biancheri, Roberta; Roland, Elke H.; Pavlidis, Paul; Ross, Colin J.; Tarailo Graovac, Maja ; Wasserman, Wyeth W.; van, Karnebeek Clara D. M.

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset [2014]

Armstrong, L.; Biancheri, R.; Shyr, C.; Rossi, A.; Sinclair, G.; Ross, C. J.; Tarailo Graovac, Maja ; Wasserman, W. W.; van, Karnebeek C. D. M.

Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center [2024]

Stefanova, Elka D. ; Marjanović, Ana ; Dobričić, Valerija S. ; Mandić-Stojmenović, Gorana B. ; Stojković, Tanja ; Branković, Marija ; Šarčević, Maksim; Novaković, Ivana V. ; Kostić, Vladimir S.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification [2013]

Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.;

Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana ; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de, Oliveira João R. M.; Sobrido, María-Jesús; Geschwind, Daniel H.; Coppola, Giovanni;