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52 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors.
Jotanovic J, Boldt HB, Burton M, Andersen MS, Bengtsson D, Bontell TO, Ekman B, Engström BE, Feldt-Rasmussen U, Heck A, Jakovcevic A, Jørgensen JOL, Kraljevic I, Kunicki J, Lindsay JR, Losa M, Loughrey PB, Maiter D, Maksymowicz M, Manojlovic-Gacic E, Pahnke J, Petersenn S, Petersson M, Popovic V, Ragnarsson O, Rasmussen ÅK, Reisz Z, Saeger W, Schalin-Jäntti C, Scheie D, Terreni MR, Tynninen O, Whitelaw B, Burman P, Casar-Borota O. Jotanovic J, et al. Among authors: jakovcevic a. Acta Neuropathol. 2024 Nov 23;148(1):68. doi: 10.1007/s00401-024-02836-5. Acta Neuropathol. 2024. PMID: 39580368 Free PMC article.
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.
Malaichamy S, Idoux R, Polavarapu K, Šikić K, Holla E, Thompson R, Spendiff S, Schänzer A, Küsters B, Freeman E, Hentschel A, O'Neil D, Carmona-Martinez R, Dobelmann V, Tucht C, Schouten M, Ruck T, Schara-Schmidt U, Kamsteeg EJ, Ramadža DP, Jakovčević A, Žigman T, Čavka M, Karcagi V, Herczegfalvi A, Laurie S, Matalonga L, Beltran S, Horvath R, Voermans N, Roos A, Barić I, Lochmüller H. Malaichamy S, et al. Among authors: jakovcevic a. Brain. 2025 Aug 1;148(8):2869-2882. doi: 10.1093/brain/awaf067. Brain. 2025. PMID: 39970126
Lipid peroxidation in brain tumors.
Jaganjac M, Cindrić M, Jakovčević A, Žarković K, Žarković N. Jaganjac M, et al. Among authors: jakovcevic a. Neurochem Int. 2021 Oct;149:105118. doi: 10.1016/j.neuint.2021.105118. Epub 2021 Jun 28. Neurochem Int. 2021. PMID: 34197897 Review.
Pneumatized Crista Galli: A Histopathologic Study.
Marjanovic Kavanagh M, Tokic T, Jakovcevic A, Smiljanic R, Bumber B, Prstacic R. Marjanovic Kavanagh M, et al. Among authors: jakovcevic a. Otolaryngol Head Neck Surg. 2020 Sep;163(3):517-521. doi: 10.1177/0194599820919719. Epub 2020 May 5. Otolaryngol Head Neck Surg. 2020. PMID: 32366159
Analysis of ASCL1/NEUROD1/POU2F3/YAP1 Yields Novel Insights for the Diagnosis of Olfactory Neuroblastoma and Identifies Sinonasal Tuft Cell-Like Carcinoma.
Febres-Aldana CA, Elsayad MM, Saliba M, Bhanot U, Ntiamoah P, Takeyama A, Purgina BM, Rodriguez-Urrego PA, Marusic Z, Jakovcevic A, Chute DJ, Dunn LA, Ganly I, Cohen MA, Pfister DG, Ghossein RA, Baine MK, Rekhtman N, Dogan S. Febres-Aldana CA, et al. Among authors: jakovcevic a. Mod Pathol. 2025 Mar;38(3):100674. doi: 10.1016/j.modpat.2024.100674. Epub 2024 Nov 28. Mod Pathol. 2025. PMID: 39613231
52 results