Maria J. Miranda
Clinical Associate Professor
- 2024
- Published
GABRA1-related disorders: from genetic to functional pathways
Musto, E., Liao, V. W. Y., Johannesen, K. M., Fenger, C. D., Lederer, D., Kothur, K., Fisk, K., Bennetts, B., Vrielynck, P., Delaby, D., Ceulemans, B., Weckhuysen, S., Sparber, P., Bouman, A., Ardern-Holmes, S., Troedson, C., Battaglia, D. I., Goel, H., Feyma, T., Bakhtiari, S. & 28 others, , 2024, In: Annals of Neurology. 95, 1, p. 27-41 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
School performance and psychiatric comorbidity in childhood absence epilepsy: A Danish cohort study
Boesen, M. S., Børresen, M. L., Christensen, S. K., Klein-Petersen, A. W., El Mahdaoui, S., Sagar, M. V., Schou, E., Eltvedt, A. K., Cacic Hribljan, M., Born, A. P., Uldall, P. V., Thygesen, L. C. & Miranda, Maria J., 2023, In: European Journal of Paediatric Neurology. 42, p. 75-81 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications
BIOJUME Consortium, B. C., 2023, In: Brain Communications. 5, 3, 18 p., fcad182.Research output: Contribution to journal › Review › Research › peer-review
- 2022
- Published
School performance and psychiatric comorbidity in juvenile absence epilepsy and juvenile myoclonic epilepsy: a Danish population-based cohort study
Boesen, M. S., Børresen, M. L., Christensen, S. K., Klein-Petersen, A. W., El Mahdaoui, S., Sagar, M. V., Schou, E., Eltvedt, A. K., Miranda, Maria J., Born, A. P., Uldall, P. V., Thygesen, L. C. & Cacic Hribljan, M., 2022, In: Journal of Neurology. 269, 9, p. 4997-5007 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Validation of Pediatric Idiopathic Generalized Epilepsy Diagnoses from the Danish National Patient Register During 1994‒2019
Boesen, M. S., Hribljan, M. C., Christensen, S. K., Klein-Petersen, A. W., Mahdaoui, S. E., Sagar, M. V., Schou, E., Eltvedt, A. K., Børresen, M. L., Miranda, Maria J., Born, A. P., Uldall, P. V. & Thygesen, L. C., 2022, In: Clinical Epidemiology. 14, p. 501-509 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
Modified Atkins Diet for Tics Requiring Treatment in Tourette Syndrome: A Randomized Controlled Trial of Early Versus Late Initiatio
Sørensen, C. B., Skov, L., Aaslet, L., Nielsen, H., Mortensen, M., Lange, Theis, Debes, Nanette M Monique Mol & Miranda, Maria J., 2021, In: Journal of Pediatric Neurology and Neuroscience. 5, 1, p. 86-94 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Infantile spasmer
Préel, M., Møller, R. S., Miranda, Maria J. & Høi-Hansen, Christina Engel, 2020, In: Ugeskrift for Laeger. 182, 15, 8 p., V10190597.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Somatiske årsager til akut opståede psykiatriske tilstande hos børn og unge
Klein-Petersen, A. W., Born, A. P., Pagsberg, Anne Katrine & Miranda, Maria J., 2020, In: Ugeskrift for Laeger. 182, 48, 7 p., V03200192.Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
The spectrum of intermediate SCN8A-related epilepsy
Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A. E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, , 2019, In: Epilepsia. 60, 5, p. 830-844 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2018
- Published
Diagnostik og behandling af migræne hos børn og unge
Vogler, K., Gren, C., Debes, Nanette M Monique Mol & Miranda, Maria J., 2018, In: Ugeskrift for Laeger. 180, 4 p., V06170484.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Hovedpine hos børn og unge
Gren, C., Vogler, K., Miranda, Maria J. & Debes, Nanette M Monique Mol, 2018, In: Ugeskrift for Laeger. 180, 7, 5 p., V06170483.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A. L., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E., Pfundt, R., Romano, C., Aronsson, J., Alberti, A., Vinci, M., Miranda, M. J., Lacroix, A., Marjanovic, D., Des Portes, V., Edery, P. & 7 others, , 2018, In: Annals of Neurology. 83, 5, p. 926-934 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Udredning af krampeanfald i neonatalperioden
Jensen, K. V., Hansen, Bo Mølholm, Lund, A. M. & Miranda, Maria J., 2018, In: Ugeskrift for Laeger. 180, 14, 6 p., V04170297.Research output: Contribution to journal › Journal article › Research › peer-review
- 2017
- Published
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S. & 30 others, , May 2017, In: Brain. 140, 5, p. 1316-1336Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Ticsundertrykkelse er en ny evidensbaseret nonfarmakologisk behandling af ticslidelse
Sørensen, C. B., Debes, Nanette M Monique Mol, Skov, L. & Miranda, Maria J., 2017, In: Ugeskrift for Laeger. 179, 10, 5 p., V09160644.Research output: Contribution to journal › Journal article › Research › peer-review
- 2016
- Published
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P. & 12 others, , Sep 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Algoritme til diagnosticering af slapt spædbarn
Christiansen, S. & Miranda, Maria J., 2 May 2016, In: Ugeskrift for Laeger. 178, 9, p. 867-71 5 p., V05150378.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val
Johannesen, K. M. H., Miranda, Maria J., Lerche, H. & Møller, R. S., 2016, In: Journal of Neurology. 263, 7, p. 1459-1460 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
- Published
Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
Jespersgaard, C., Damgaard, I. N., Cornelius, N., Bache, Iben, Knabe, N., Miranda, Maria J. & Tümer, Asuman Zeynep, 2016, In: Molecular Cytogenetics. 9, 7 p., 11.Research output: Contribution to journal › Journal article › Research › peer-review
- 2015
- Published
TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN 163 PATIENTS WITH EPILEPTIC ENCEPHALOPATHIES
Dahl, H. A., Larsen, L. H. G., Olofsson, K., Miranda, M., Nielsen, J. E. K., Lavard, L., Linnet, K., Uldall, P., Talvik, T., Talvik, I., Frangu, M., Born, P., Gellert, P., Nikanorova, M., Jepsen, B., Marjanovic, D., Kragh-Olsen, B., Mosbech, M. -B., Hao, Q., Brusgaard, K. & 2 others, , Dec 2015, In: Epilepsia. 56, Supplement S1, p. 72-73Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn
Christiansen, S., Roos, L. K. S. & Miranda, Maria J., 28 Sep 2015, In: Ugeskrift for Laeger. 177, 40, p. V05150380Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Akut dissemineret encefalomyelitis er en vigtig differentialdiagnose hos det akut påvirkede barn
Olofsson, I. A., Skov, L. & Miranda, Maria J., 13 Jul 2015, In: Ugeskrift for Laeger. 177, 29, p. 2-3 V10140549.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia
Hallböök, T., Sjölander, A., Åmark, P., Miranda, Maria J., Bjurulf, B. & Dahlin, M., Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 29-36 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Demyeliniserende sygdom hos børn med akutte neurologiske symptomer
Olofsson, I. A., Skov, L. & Miranda, Maria J., 2015, In: Ugeskrift for Laeger. 177, p. 2-6 5 p., V07150587.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 44652539
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Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
24
downloads
Validation of Pediatric Idiopathic Generalized Epilepsy Diagnoses from the Danish National Patient Register During 1994‒2019
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
23
downloads
The spectrum of intermediate SCN8A-related epilepsy
Research output: Contribution to journal › Journal article › Research › peer-review
Published