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    Rikke Steensbjerre Møller
2019

From next generation sequencing to targeted treatment of non-acquired epilepsies

Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R. & Johannesen, K. M., mar. 2019, I : Expert Review of Molecular Diagnostics. 19, 3, s. 217-228

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Exome
Precision Medicine
Genetic Heterogeneity
Expert Testimony
Routine Diagnostic Tests
123 Downloads (Pure)

The landscape of epilepsy-related GATOR1 variants

Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 flere, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d’Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., 1. feb. 2019, I : Genetics in Medicine. 21, 2, s. 398-408

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Fil
Sudden Death
Malformations of Cortical Development
Age of Onset
Comorbidity
Guidelines

The first step towards personalized risk prediction for common epilepsies

Hansen, T. F. & Møller, R. S., 30. okt. 2019, I : Brain : a journal of neurology. 142, 11, s. 3316-3318

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

200 Downloads (Pure)

Clinician's guide to genes associated with Rett-like phenotypes: Investigation of a Danish cohort and review of the literature

Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., feb. 2019, I : Clinical Genetics. 95, 2, s. 221-230

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Åben adgang
Fil
Rett Syndrome
De Lange Syndrome
Genetic Heterogeneity
2018
106 Downloads (Pure)

Progress in Understanding and Treating SCN2A-Mediated Disorders

Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., Bernier, R. A., Catterall, W. A., Chung, W. K., Empfield, J. R., George, A. L., Hipp, J. F., Khwaja, O., Kiskinis, E., Lal, D., Malhotra, D., Millichap, J. J., Otis, T. S., Petrou, S., Pitt, G. & 5 flere, Schust, L. F., Taylor, C. M., Tjernagel, J., Spiro, J. E. & Bender, K. J., 2018, I : Trends in Neurosciences. 41, 7, s. 442-456

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Åben adgang
Fil
Genetic Association Studies
Neurobiology
Ligands
Autism Spectrum Disorder
2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M. L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C. & 66 flere, Cristancho, A. G., Cunningham, F., Dehouck, M. B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M. L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J. M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., aug. 2019, I : Genetics in Medicine. 21, 8, s. 1897-1898

Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

Åben adgang
Licensure
2018
147 Downloads (Pure)

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Knaus, A., Pantel, J. T., Pendziwiat, M., Hajjir, N., Zhao, M., Hsieh, T. C., Schubach, M., Gurovich, Y., Fleischer, N., Jäger, M., Köhler, S., Muhle, H., Korff, C., Møller, R. S., Bayat, A., Calvas, P., Chassaing, N., Warren, H., Skinner, S., Louie, R. & 16 flere, Evers, C., Bohn, M., Christen, H. J., van den Born, M., Obersztyn, E., Charzewska, A., Endziniene, M., Kortüm, F., Brown, N., Robinson, P. N., Schelhaas, H. J., Weber, Y., Helbig, I., Mundlos, S., Horn, D. & Krawitz, P. M., 9. jan. 2018, I : Genome Medicine. 10, 13 s., 3.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Fil
Glycosylphosphatidylinositols
Flow Cytometry
Muscle Hypotonia
Alkaline Phosphatase
Mutation
161 Downloads (Pure)

Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A. E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M. T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W. H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 30 flere, Chae, J. H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Rubboli, G. & Møller, R. S., 2018, I : Epilepsia. 59, 2, s. 389-402

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Fil
Mutation
Language Development Disorders
Electroencephalography
Absence Epilepsy
Valproic Acid
2019

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

the EuroEPINOMICS-RES Consortium & the GRIN Consortium, 6. jun. 2019, I : American Journal of Human Genetics. 104, 6, s. 1060-1072

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Clathrin
Endocytosis
Exome
Entropy
Membranes
2016

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoit, V., Budetta, M., Caliebe, A., Cantalupo, G., Capovilla, G., Casara, G., Courage, C., Deprez, M., Destrée, A., Dilena, R., Erasmus, C. E., Fannemel, M., Fjær, R. & 37 flere, Giordano, L., Helbig, K. L., Heyne, H. O., Klepper, J., Kluger, G. J., Lederer, D., Lodi, M., Maier, O., Merkenschlager, A., Michelberger, N., Minetti, C., Muhle, H., Phalin, J., Ramsey, K., Romeo, A., Schallner, J., Schanze, I., Shinawi, M., Sleegers, K., Sterbova, K., Syrbe, S., Traverso, M., Tzschach, A., Uldall, P., Van Coster, R., Verhelst, H., Viri, M., Winter, S., Wolff, M., Zenker, M., Zoccante, L., De Jonghe, P., Helbig, I., Striano, P., Lemke, J. R., Møller, R. S. & Weckhuysen, S., 8. mar. 2016, I : Neurology. 86, 10, s. 954-962

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
Movement Disorders
Nervous System
Comorbidity

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome

Lund, C., Striano, P., Sorte, H. S., Parisi, P., Iacomino, M., Sheng, Y., Vigeland, M. D., Øye, A-M., Møller, R. S., Selmer, K. K. & Zara, F., sep. 2016, I : Molecular Syndromology. 7, 4, s. 234-238

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Exome
Mosaicism
Mutation
Parents

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

Møller, R. S. & Johannesen, K. M., 2016, I : Neurotherapeutics. 13, 1, s. 190-191

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
2019

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations

Lesca, G., Møller, R. S., Rudolf, G., Hirsch, E., Hjalgrim, H. & Szepetowski, P., jun. 2019, I : Epileptic disorders : international epilepsy journal with videotape. 21, S1, s. 41-47

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Rolandic Epilepsy
Mutation
Landau-Kleffner Syndrome
Cytogenetics
Language
2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Lemke, J. R., Geider, K., Helbig, K. L., Heyne, H. O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., Møller, R. S., Hjalgrim, H., Lal, D., Neubauer, B. A., Nürnberg, P., Thiele, H., Kurlemann, G., Arnold, G. L., Bhambhani, V., Bartholdi, D. & 38 flere, Pedurupillay, C. R. J., Misceo, D., Frengen, E., Strømme, P., Dlugos, D. J., Doherty, E. S., Bijlsma, E. K., Ruivenkamp, C. A., Hoffer, M. J. V., Goldstein, A., Rajan, D. S., Narayanan, V., Ramsey, K., Belnap, N., Schrauwen, I., Richholt, R., Koeleman, B. P. C., Sá, J., Mendonça, C., de Kovel, C. G. F., Weckhuysen, S., Hardies, K., De Jonghe, P., De Meirleir, L., Milh, M., Badens, C., Lebrun, M., Busa, T., Francannet, C., Piton, A., Riesch, E., Biskup, S., Vogt, H., Dorn, T., Helbig, I., Michaud, J. L., Laube, B. & Syrbe, S., 2016, I : Neurology. 86, 23, s. 2171-2178

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

N-Methyl-D-Aspartate Receptors
Mutation
Movement Disorders
Cortical Blindness
Hyperkinesis

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

de Lange, I. M., Helbig, K. L., Weckhuysen, S., Møller, R. S., Velinov, M., Dolzhanskaya, N., Marsh, E., Helbig, I., Devinsky, O., Tang, S., Mefford, H. C., Myers, C. T., van Paesschen, W., Striano, P., van Gassen, K., van Kempen, M., de Kovel, C. G. F., Piard, J., Minassian, B. A., Nezarati, M. M. & 13 flere, Pessoa, A., Jacquette, A., Maher, B., Balestrini, S., Sisodiya, S., Warde, M. T. A., De St Martin, A., Chelly, J., EuroEPINOMICS-RES MAE working group, van 't Slot, R., Van Maldergem, L., Brilstra, E. H. & Koeleman, B. P. C., 1. dec. 2016, I : Journal of Medical Genetics. 53, 12, s. 850-858

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Mutation
X Chromosome Inactivation
RNA
Absence Epilepsy
Microcephaly

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies

Johannesen, K., Marini, C., Pfeffer, S., Møller, R. S., Dorn, T., Niturad, C., Gardella, E., Weber, Y., Søndergård, M., Hjalgrim, H., Nikanorova, M., Becker, F., Larsen, L. H. G., Dahl, H. A., Maier, O., Mei, D., Biskup, S., Klein, K. M., Reif, P. S., Rosenow, F. & 26 flere, Elias, A. F., Hudson, C., Helbig, K. L., Schubert-Bast, S., Scordo, M. R., Craiu, D., Djémié, T., Hoffman-Zacharska, D., Caglayan, H., Helbig, I., Serratosa, J., Striano, P., De Jonghe, P., Weckhuysen, S., Suls, A., Muru, K., Talvik, I., Talvik, T., Muhle, H., Borggraefe, I., Rost, I., Guerrini, R., Lerche, H., Lemke, J. R., Rubboli, G. & Maljevic, S., 2016, I : Neurology. 87, 11, s. 1140-1151

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
Electroencephalography
Juvenile Myoclonic Epilepsy
Photic Stimulation
Xenopus laevis

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Gardella, E., Becker, F., Møller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S., Dibbens, L. & 8 flere, Weckhuysen, S., Dahl, H. A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. & Weber, Y. G., mar. 2016, I : Annals of Neurology. 79, 3, s. 428-436

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
Electroencephalography
Founder Effect
Exome
Shivering
2017

Filadelfia, Danish Epilepsy Center, Dianalund, Denmark

Hjalgrim, H., Nederland, A., Madsen, C., Birk, S., Madsen, S. R., Olofsson, K., Brandt, C. E., Beniczky, S., Rasmussen, J. B., Boserup, L., Lyngsø, L. S., Vilhelmsen, L. L., Sand, E., Kjær, G., Nielsen, K. P., Olsen, J. T., Møller, R. S. & Jeppesen, J. O. S., nov. 2017, I : Epilepsy & Behavior. 76, Suppl., s. S4-S8

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Møller, R. S., Wuttke, T. V., Helbig, I., Marini, C., Johannesen, K. M., Brilstra, E. H., Vaher, U., Borggraefe, I., Talvik, I., Talvik, T., Kluger, G., Francois, L. L., Lesca, G., de Bellescize, J., Blichfeldt, S., Chatron, N., Holert, N., Jacobs, J., Swinkels, M. E. M., Betzler, C. & 22 flere, Syrbe, S., Nikanorova, M., Myers, C. T., Larsen, L. H. G., Vejzovic, S., Pendziwiat, M., von Spiczak, S., Hopkins, S., Dubbs, H., Mang, Y., Mukhin, K., Holthausen, H., van Gassen, K. L., Dahl, H. A., Tommerup, N., Mefford, H. C., Rubboli, G., Guerrini, R., Lemke, J. R., Lerche, H., Muhle, H. & Maljevic, S., 2017, I : Neurology. 88, 5, s. 483-492

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Febrile Seizures
Mutation
Xenopus laevis
Microelectrodes
GABA-A Receptors
127 Downloads (Pure)

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., Gorman, K., King, M. D., Allen, N. M., Conroy, J., Ben Zeev, B., Tzadok, M., Korff, C., Dubois, F., Ramsey, K., Narayanan, V. & 23 flere, Serratosa, J. M., Giraldez, B. G., Helbig, I., Marsh, E., O'Brien, M., Bergqvist, C. A., Binelli, A., Porter, B., Zaeyen, E., Horovitz, D. D., Wolff, M., Marjanovic, D., Caglayan, H. S., Arslan, M., Pena, S. D. J., Sisodiya, S. M., Balestrini, S., Syrbe, S., Veggiotti, P., Lemke, J. R., Møller, R. S., Lerche, H. & Rubboli, G., 2017, I : Brain. 140, 9, s. 2337-2354

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Fil
Genetic Association Studies
Mutation
Microelectrodes
Missense Mutation
Oocytes
2018
62 Downloads (Pure)

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium, aug. 2018, I : Lancet Neurology. 17, 8, s. 699-708

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Fil
Exome
GABA-A Receptors
Case-Control Studies
Odds Ratio
Luxembourg
2020

Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders

Du, J., Simmons, S., Brunklaus, A., Adiconis, X., Hession, C. C., Fu, Z., Li, Y., Shema, R., Møller, R. S., Barak, B., Feng, G., Meisler, M., Sanders, S., Lerche, H., Campbell, A. J., McCarroll, S., Levin, J. Z. & Lal, D., jan. 2020, I : European Journal of Paediatric Neurology. 24, s. 129-133

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Neurons
RNA Sequence Analysis
Homeostasis
RNA
2019

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes

Gardella, E. & Møller, R. S., 1. dec. 2019, I : Epilepsia. 60, S3, s. S77-S85

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Åben adgang
Electroencephalography
Cortical Blindness
Mydriasis
Premature Mortality
Movement Disorders
2018

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Møller, R. S. & EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, 6. dec. 2018, I : American Journal of Human Genetics. 103, 6, s. 1022-1029

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Poisons
Exome
Human Genome
Transcriptome
Research Personnel
126 Downloads (Pure)

Incorporating epilepsy genetics into clinical practice: A 360°evaluation

Oates, S., Tang, S., Rosch, R., Lear, R., Hughes, E. F., Williams, R. E., Larsen, L. H. G., Hao, Q., Dahl, H. A., Møller, R. S. & Pal, D. K., 2018, I : npj Genomic Medicine. 3, 11 s., 13.

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Åben adgang
Fil
Genetic Counseling
Diagnostic Services
Genetic Association Studies
Newborn Infant
Population
2016

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

Mignot, C., von Stülpnagel, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, G. C., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybała, M., Yiş, U., Çağlayan, H., Isapof, A., Marey, I., Panagiotakaki, E., Korff, C. & 26 flere, Rossier, E., Riess, A., Beck-Woedl, S., Rauch, A., Zweier, C., Hoyer, J., Reis, A., Mironov, M., Bobylova, M., Mukhin, K., Hernandez-Hernandez, L., Maher, B., Sisodiya, S., Kuhn, M., Glaeser, D., Wechuysen, S., Myers, C. T., Mefford, H. C., Hörtnagel, K., Biskup, S., EuroEPINOMICS-RES MAE working group, Lemke, J. R., Héron, D., Kluger, G., Depienne, C. & Møller, R. S., 17. mar. 2016, I : Journal of Medical Genetics. 53, 8, s. 511-522

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
Exome
Absence Epilepsy
Muscle Hypotonia
Recombinant DNA
2019

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

Wengert, E. R., Tronhjem, C. E., Wagnon, J. L., Johannesen, K. M., Petit, H., Krey, I., Saga, A. U., Panchal, P. S., Strohm, S. M., Lange, J., Kamphausen, S. B., Rubboli, G., Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., nov. 2019, I : Epilepsia. 60, 11, s. 2277-2285

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Alleles
Movement Disorders
2018
139 Downloads (Pure)

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, 22. jun. 2018, I : Science. 360, 6395, 15 s., 8757.

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Åben adgang
Fil
Genetic Heterogeneity
Genome-Wide Association Study
Nervous System Diseases
Comorbidity
102 Downloads (Pure)

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 30 flere, Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, J. E. K., Obersztyn, E., Pantaleoni, C. & Pellicciari, A., 1. sep. 2018, I : Genetics in Medicine. 20, 9, s. 965-975

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Åben adgang
Fil
Mutation
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Proteins
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2019

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