Search

Your search keyword '"Zaharieva, I."' showing total 203 results
Start Over Author "Zaharieva, I."
203 results on '"Zaharieva, I."'

1. P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy

Author

Donkervoort, S., primary, Zaharieva, I., additional, Essid, M., additional, Longman, C., additional, Foley, A., additional, Horrocks, I., additional, Benrhouma, H., additional, Farrugia, M., additional, Neuhaus, S., additional, Younes, T., additional, Youssef-Turki, I., additional, Jamshidi, Y., additional, Chao, K., additional, Houlden, H., additional, Maroofian, R., additional, Bönnemann, C., additional, Muntoni, F., additional, and Sarkozy, A., additional

Published
2023
Full Text
View/download PDF

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
Abstract

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí

Published
2023

5. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

Author

Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A., Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Yaou, R. B., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Patch, C., Hanna, M., Reilly, M., Muntoni, F., Zaharieva, I., Sarkozy, A., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., de la Rosa, F. J. A. G., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Molnar, M. J., Herzog, R., Pauly, M., Osorio, A. N., de Benito, D. N., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Cruz, P. M. R., Hackman, P., Johari, M., Savarese, M., Udd, B., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., and Rump, A.

Abstract

In the original publication of the article, consortium author lists were missing in the article. The details are given below

Published
2021

9. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Author

Spitali, P., Zaharieva, I., Bohringer, S., Hiller, M., Chaouch, A., Roos, A., Scotton, C., Claustres, M., Bello, L., McDonald, C.M., Hoffman, E.P., Koeks, Z., Suchiman, H.E., Cirak, S., Scoto, M., Reza, M., Hoen, P.A.C. t, Niks, E.H., Tuffery-Giraud, S., Lochmuller, H., Ferlini, A., Muntoni, F., Aartsma-Rus, A., Dubrovsky, A., Kornberg, A., North, K., Ryan, M., Webster, R., Biggar, W.D., McAdam, L.C., Mah, J.K., Kolski, H., Vishwanathan, V., Chidambaranathan, S., Nevo, Y., Gorni, K., Carlo, J., Tulinius, M., Lotze, T., Bertorini, T.E., Day, J.W., Karachunski, P., Clemens, P.R., Abdel-Hamid, H., Teasley, J., Kuntz, N., Driscoll, S., Bodensteiner, J.B., Connolly, A.M., Pestronk, A., Abresch, R.T., Henricson, E.K., Joyce, N.C., Cnaan, A., Gordish-Dressmsn, H., Morgenroth, L.P., Leshner, R., Tesi-Rocha, C., Thangarajh, M., Duong, T., CINRG Investigators, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universita degli Studi di Padova, Newcastle University [Newcastle], Department of Reproduction and Growth, UOL of Medical Genetics (University Hospital St Anna, Ferrara), University of Ferrara at St. Anna Hospital, Dubowitz Neuromuscular Center, Institute of Child Health, and Human Genetics

Subjects
Male, 0301 basic medicine, Adolescent, Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Locus (genetics), Polymorphism, Single Nucleotide, Genome-wide association studies, Article, Prognostic markers, 03 medical and health sciences, Exon, 0302 clinical medicine, Genotype, Genetics, medicine, Humans, Allele, Muscular dystrophy, Child, Genetics (clinical), Genes, Modifier, biology, business.industry, Neuromuscular disease, medicine.disease, Muscular Dystrophy, Duchenne, Phenotype, 030104 developmental biology, Disease Progression, biology.protein, Human genome, Dystrophin, business, 030217 neurology & neurosurgery
Abstract

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify genetic factors that may account for some of the variability in the clinical presentation. We compared whole-exome sequencing (WES) data in 27 DMD patients with extreme phenotypes to identify candidate variants that could affect disease progression. Validation of the candidate SNPs was performed in two independent cohorts including 301 (BIO-NMD cohort) and 109 (CINRG cohort of European ancestry) DMD patients, respectively. Variants in the Tctex1 domain containing 1 (TCTEX1D1) gene on chromosome 1 were associated with age of ambulation loss. The minor alleles of two independent variants, known to affect TCTEX1D1 coding sequence and induce skipping of its exon 4, were associated with earlier loss of ambulation. Our data show that disease progression of DMD is affected by a new locus on chromosome 1 and demonstrate the possibility to identify genetic modifiers in rare diseases by studying WES data in patients with extreme phenotypes followed by multiple layers of validation.

Published
2020

10. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Author

Spitali, P, Zaharieva, I, Bohringer, S, Hiller, M, Chaouch, A, Roos, A, Scotton, C, Claustres, M, Bello, L, McDonald, CM, Hoffman, EP, Koeks, Z, Suchiman, HE, Cirak, S, Scoto, M, Reza, M, 't Hoen, PAC, Niks, EH, Tuffery-Giraud, S, Lochmueller, H, Ferlini, A, Muntoni, F, Aartsma-Rus, A, Dubrovsky, A, Kornberg, A, North, K, Ryan, M, Webster, R, Biggar, WD, McAdam, LC, Mah, JK, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Tulinius, M, Lotze, T, Bertorini, TE, Day, JW, Karachunski, P, Clemens, PR, Abdel-Hamid, H, Teasley, J, Kuntz, N, Driscoll, S, Bodensteiner, JB, Connolly, AM, Pestronk, A, Abresch, RT, Henricson, EK, Joyce, NC, Cnaan, A, Gordish-Dressmsn, H, Morgenroth, LP, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Spitali, P, Zaharieva, I, Bohringer, S, Hiller, M, Chaouch, A, Roos, A, Scotton, C, Claustres, M, Bello, L, McDonald, CM, Hoffman, EP, Koeks, Z, Suchiman, HE, Cirak, S, Scoto, M, Reza, M, 't Hoen, PAC, Niks, EH, Tuffery-Giraud, S, Lochmueller, H, Ferlini, A, Muntoni, F, Aartsma-Rus, A, Dubrovsky, A, Kornberg, A, North, K, Ryan, M, Webster, R, Biggar, WD, McAdam, LC, Mah, JK, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Tulinius, M, Lotze, T, Bertorini, TE, Day, JW, Karachunski, P, Clemens, PR, Abdel-Hamid, H, Teasley, J, Kuntz, N, Driscoll, S, Bodensteiner, JB, Connolly, AM, Pestronk, A, Abresch, RT, Henricson, EK, Joyce, NC, Cnaan, A, Gordish-Dressmsn, H, Morgenroth, LP, Leshner, R, Tesi-Rocha, C, Thangarajh, M, and Duong, T

Abstract

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify genetic factors that may account for some of the variability in the clinical presentation. We compared whole-exome sequencing (WES) data in 27 DMD patients with extreme phenotypes to identify candidate variants that could affect disease progression. Validation of the candidate SNPs was performed in two independent cohorts including 301 (BIO-NMD cohort) and 109 (CINRG cohort of European ancestry) DMD patients, respectively. Variants in the Tctex1 domain containing 1 (TCTEX1D1) gene on chromosome 1 were associated with age of ambulation loss. The minor alleles of two independent variants, known to affect TCTEX1D1 coding sequence and induce skipping of its exon 4, were associated with earlier loss of ambulation. Our data show that disease progression of DMD is affected by a new locus on chromosome 1 and demonstrate the possibility to identify genetic modifiers in rare diseases by studying WES data in patients with extreme phenotypes followed by multiple layers of validation.

Published
2020

11. Water-oxidizing complex in Photosystem II: Its structure and relation to manganese-oxide based catalysts

Author

Najafpour, MM, Zaharieva, I, Zand, Z, Maedeh Hosseini, S, Kouzmanova, M, Hołyńska, M, Tranca, I, Larkum, AW, Shen, JR, Allakhverdiev, SI, Najafpour, MM, Zaharieva, I, Zand, Z, Maedeh Hosseini, S, Kouzmanova, M, Hołyńska, M, Tranca, I, Larkum, AW, Shen, JR, and Allakhverdiev, SI

Abstract

© 2020 Elsevier B.V. Cyanobacteria, green algae, and higher plants provide the major part of molecular O2 of Earth atmosphere via water oxidation of oxygenic photosynthesis. The water-oxidizing complex is a manganese-calcium oxide-based cluster embedded in Photosystem II that oxidizes water with high turnover frequency. The atomic structure and analysis of the Mn-Ca cluster are important in understanding the mechanism of water oxidation and for the design of efficient artificial water-oxidizing catalysts. With this short review, we aim to introduce the basic features of the biological water oxidation to the new-comers in the field. Taking into account the recent structural studies, including a high-resolution, radiation-damage-free structure of the water-oxidizing complex, and structures of intermediate S-states revealed by femtosecond X-ray free electron lasers, we discuss the structure and functions of the biologically active site and its implications for the development of inorganic catalysts for solar fuels production.

Published
2020

15. CONGENITAL MUSCULAR DYSTROPHIES

Author

Munot, P., primary, McCrea, N., additional, Torelli, S., additional, Manzur, A., additional, Sewry, C., additional, Chambers, D., additional, Feng, L., additional, Ala, P., additional, Zaharieva, I., additional, Ragge, N., additional, Roper, H., additional, Marton, T., additional, Cox, P., additional, Milev, M., additional, Sacher, M., additional, Liang, W., additional, Maruyama, S., additional, Nishino, I., additional, Phadke, R., additional, and Muntoni, F., additional

Published
2020
Full Text
View/download PDF

16. CONGENITAL MUSCULAR DYSTROPHIES

Author

Natera-de Benito, D., primary, Zaharieva, I., additional, Pini, V., additional, Manzur, A., additional, Munot, P., additional, DiTroia, S. Parker, additional, Gioia, S. Di, additional, Jurgens, J., additional, Barry, B., additional, England, E., additional, Ledoux, D., additional, O´Donell-Luria, A., additional, MacArthur, D., additional, Feng, L., additional, Phadke, R., additional, Sarkozy, A., additional, Engle, E., additional, and Muntoni, F., additional

Published
2020
Full Text
View/download PDF

18. Electromodified NiFe Alloys as Electrocatalysts for Water Oxidation: Mechanistic Implications of Time-Resolved UV/Vis Tracking of Oxidation State Changes

Author

Loos, S., Zaharieva, I., Chernev, P., Lißner, A., Dau, H., and Publica

Abstract

Facile electromodification of metallic NiFe alloys leads to a series of NiFe oxyhydroxide surface films with excellent electrocatalytic performance in alkaline water oxidation. During cyclic voltammetry and after sudden potential jumps between noncatalytic and catalytic potentials, Ni oxidation/reduction was tracked with millisecond time resolution by a UV/Vis reflectance signal. Optimal catalysis at intermediate Ni/Fe ratios is explained by two opposing trends for increasing Fe content: a) pronounced slowdown of the Ni 2+ /Ni 3+ oxidation step and b) increased reactivity of the most oxidized catalyst state detectable at catalytic potentials. This state may involve an equilibrium between Ni 4+ ions and Ni 2+ ions with neighboring ligand holes, possibly in the form of bound peroxides.

Published
2019

21. SMA THERAPIES II AND BIOMARKERS

Author

Zaharieva, I., primary, Lauffer, M., additional, Bollen, E., additional, Aragon-Gawinska, K., additional, Servais, L., additional, Scoto, M., additional, Zhou, H., additional, and Muntoni, F., additional

Published
2018
Full Text
View/download PDF

22. MITOCHONDRIAL DISEASES (Posters)

Author

Ardicli, D., primary, Zaharieva, I., additional, Sarkozy, A., additional, Phadke, R., additional, Deshpande, C., additional, Bodi, I., additional, Siddiqui, A., additional, U-King-Im, J., additional, Jungbluth, H., additional, and Muntoni, F., additional

Published
2018
Full Text
View/download PDF

23. DUCHENNE MUSCULAR DYSTROPHY - GENETICS

Author

Schottlaender, L., primary, Domingos, J., additional, D'Argenzio, L., additional, Zaharieva, I., additional, Ala, P., additional, Manzur, A., additional, Bourke, J., additional, Morgan, J., additional, and Muntoni, F., additional

Published
2018
Full Text
View/download PDF

26. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne

Author

Lourbakos, A., primary, Yau, N., additional, de Bruijn, P., additional, Hiller, M., additional, Kozaczynska, K., additional, Jean-Baptiste, R., additional, Reza, M., additional, Wolterbeek, R., additional, Koeks, Z., additional, Ayoglu, B., additional, de Klerk, D., additional, Campion, G., additional, Zaharieva, I., additional, Nadarajah, V. D., additional, Nilsson, P., additional, Al-Khalili Szigyarto, C., additional, Muntoni, F., additional, Lochmüller, H., additional, Verschuuren, J. J., additional, Goemans, N., additional, Tulinius, M., additional, Niks, E. H., additional, de Kimpe, S., additional, Aartsma-Rus, A., additional, ’t Hoen, Peter A. C., additional, and Spitali, P., additional

Published
2017
Full Text
View/download PDF

27. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne

Author

Lourbakos, A., Yau, N., de Bruijn, P., Hiller, M., Kozaczynska, K., Jean-Baptiste, R., Reza, M., Wolterbeek, R., Koeks, Z., Ayoglu, Burcu, de Klerk, D., Campion, G., Zaharieva, I., Nadarajah, V. D., Nilsson, P., Al-Khalili Szigyarto, Cristina, Muntoni, F., Lochmuller, H., Verschuuren, J. J., Goemans, N., Tulinius, M., Niks, E. H., de Kimpe, S., Aartsma-Rus, A., 't Hoen, Peter A. C., Spitali, P., Lourbakos, A., Yau, N., de Bruijn, P., Hiller, M., Kozaczynska, K., Jean-Baptiste, R., Reza, M., Wolterbeek, R., Koeks, Z., Ayoglu, Burcu, de Klerk, D., Campion, G., Zaharieva, I., Nadarajah, V. D., Nilsson, P., Al-Khalili Szigyarto, Cristina, Muntoni, F., Lochmuller, H., Verschuuren, J. J., Goemans, N., Tulinius, M., Niks, E. H., de Kimpe, S., Aartsma-Rus, A., 't Hoen, Peter A. C., and Spitali, P.

Abstract

Duchenne Muscular Dystrophy (DMD) is a severe muscle disorder caused by lack of dystrophin. Predictive biomarkers able to anticipate response to the therapeutic treatments aiming at dystrophin re-expression are lacking. The objective of this study is to investigate Matrix Metalloproteinase-9 (MMP-9) as predictive biomarker for Duchenne. Two natural history cohorts were studied including 168 longitudinal samples belonging to 66 patients. We further studied 1536 samples obtained from 3 independent clinical trials with drisapersen, an antisense oligonucleotide targeting exon 51: an open label study including 12 patients; a phase 3 randomized, double blind, placebo controlled study involving 186 patients; an open label extension study performed after the phase 3. Analysis of natural history cohorts showed elevated MMP-9 levels in patients and a significant increase over time in longitudinal samples. MMP-9 decreased in parallel to clinical stabilization in the 12 patients involved in the open label study. The phase 3 study and subsequent extension study clarified that the decrease in MMP-9 levels was not predictive of treatment response. These data do not support the inclusion of serum MMP-9 as predictive biomarker for DMD patients., QC 20180111

Published
2017
Full Text
View/download PDF

28. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Author

Nasca, A., Scotton, C., Zaharieva, I., Neri, M., Selvatici, R., Magnusson, O. T., Gal, A., Weaver, D., Rossi, R., Armaroli, A., Pane, Marika, Phadke, R., Sarkozy, A., Muntoni, F., Hughes, I., Cecconi, Arianna Veronica, Hajnoczky, G., Donati, Andrea, Mercuri, Eugenio Maria, Zeviani, M., Ferlini, A., Ghezzi, Daniele Maria, Pane M. (ORCID:0000-0002-4851-6124), Cecconi A., Donati A., Mercuri E. (ORCID:0000-0002-9851-5365), Ghezzi D., Nasca, A., Scotton, C., Zaharieva, I., Neri, M., Selvatici, R., Magnusson, O. T., Gal, A., Weaver, D., Rossi, R., Armaroli, A., Pane, Marika, Phadke, R., Sarkozy, A., Muntoni, F., Hughes, I., Cecconi, Arianna Veronica, Hajnoczky, G., Donati, Andrea, Mercuri, Eugenio Maria, Zeviani, M., Ferlini, A., Ghezzi, Daniele Maria, Pane M. (ORCID:0000-0002-4851-6124), Cecconi A., Donati A., Mercuri E. (ORCID:0000-0002-9851-5365), and Ghezzi D.

Abstract

We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported. Studies in patients’ fibroblasts revealed that MSTO1 protein levels were strongly reduced, the mitochondrial network was fragmented, and the fusion events among mitochondria were decreased, confirming the deleterious effect of the identified variants and the role of MSTO1 in modulating mitochondrial dynamics. We also found that MSTO1 is mainly a cytosolic protein. These findings indicate recessive mutations in MSTO1 as a new cause for inherited neuromuscular disorders with multisystem features.

Published
2017

29. Cobalt-oxo core of a water-oxidizing catalyst film

Author

Risch, M., Khare, V., Zaharieva, I., Gerencser, L., Chernev, P., and Dau, H.

Subjects
Cobalt -- Chemical properties, Cobalt -- Optical properties, Manganese -- Chemical properties, Manganese -- Optical properties, Oxidation-reduction reaction -- Analysis, Protein binding -- Analysis, X-ray spectroscopy -- Usage, Chemistry
Abstract

Water is oxidized at a protein-bound [Mn.sub.4]Ca complex in photosynthesis and x-ray absorption spectroscopy on the cobalt catalyst film (CoCF) has suggested that its central structural unit is a cluster of interconnected complete or incomplete [Co.sup.III]-oxo cubanes. The studies have provided a close analogy with respect to the metal-oxo core of the catalyst.

Published
2009

30. Recessive mutations in novel gene MST01 cause early onset neuromuscular condition

Author

Sarkozy, A., primary, Zaharieva, I., additional, Nasca, A., additional, Scotton, C., additional, Selvatici, R., additional, Neri, M., additional, Magnusson, O., additional, Gal, A., additional, Weaver, D., additional, Armaroli, A., additional, Pane, M., additional, Hajnóczky, G., additional, Sewry, C., additional, Phadke, R., additional, Donati, A., additional, Mercuri, E., additional, Zeviani, M., additional, Muntoni, F., additional, Ghezzi, D., additional, and Ferlini, A., additional

Published
2017
Full Text
View/download PDF

31. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Author

Schartner, V., primary, Romero, N., additional, Donkervoort, S., additional, Treves, S., additional, Munot, P., additional, Pierson, T., additional, Dabaj, I., additional, Malfatti, E., additional, Zaharieva, I., additional, Zorzato, F., additional, Eymard, B., additional, Taratuto, A., additional, Boland, A., additional, Deleuze, J., additional, Biancalana, V., additional, Quijano-Roy, S., additional, Muntoni, F., additional, Bönnemann, C., additional, and Laporte, J., additional

Published
2017
Full Text
View/download PDF

34. STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

Author

Zaharieva, I., primary, Sarkozy, A., additional, Manzur, A., additional, Munot, P., additional, O’Grady, G., additional, Rendu, J., additional, Amthor, H., additional, Servais, L., additional, Malfatti, E., additional, Dixon, J., additional, Poke, G., additional, Donkervoort, S., additional, Foley, A.R., additional, Neto, O.L.A., additional, Davis, M.R., additional, Urtizberea, J.A., additional, Bastaki, L., additional, Romero, N.B., additional, Oates, E.C., additional, Holmes, C., additional, Williams, G., additional, Sframeli, M., additional, Yum, S., additional, Medne, L., additional, Roy, S.Q., additional, Fauré, J., additional, Feng, L., additional, Morgan, J.E., additional, Bönnemann, C.G., additional, Phadke, R., additional, Sewry, C.A., additional, Treves, S., additional, and Muntoni, F., additional

Published
2017
Full Text
View/download PDF

36. Photo-assisted water oxidation by high-nuclearity cobalt-oxo cores: tracing the catalyst fate during oxygen evolution turnover

Author

Natali, M., primary, Bazzan, I., additional, Goberna-Ferrón, S., additional, Al-Oweini, R., additional, Ibrahim, M., additional, Bassil, B. S., additional, Dau, H., additional, Scandola, F., additional, Galán-Mascarós, J. R., additional, Kortz, U., additional, Sartorel, A., additional, Zaharieva, I., additional, and Bonchio, M., additional

Published
2017
Full Text
View/download PDF

37. G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

Author

Zaharieva, I, Cirak, S, Anthony, Karen, Feng, L, Tasca, G, Ferlini, A, Morgan, J, and Muntoni, F

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, musculoskeletal system, nervous system diseases
Abstract

Becker (BMD) and Duchenne muscular dystrophy (DMD) are allelic disorders arising from mutations in the dystrophin gene. In-frame mutations lead to the milder BMD while out-of-frame mutations disrupt the reading frame and lead to the severe DMD with lack of dystrophin. A therapeutic strategy for skipping specific exons in dystrophin and restoring the open reading frame has been successfully applied in DMD; this “converts” the out-of-frame deletion in DMD to BMD-like in-frame deletion. Micro RNAs (miRs) are small RNA sequences that regulate gene expression post-transcriptionally.

Published
2015

39. Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Author

Scotton, C., primary, Bovolenta, M., additional, Schwartz, E., additional, Falzarano, M. S., additional, Martoni, E., additional, Passarelli, C., additional, Armaroli, A., additional, Osman, H., additional, Rodolico, C., additional, Messina, S., additional, Pegoraro, E., additional, D'Amico, A., additional, Bertini, E., additional, Gualandi, F., additional, Neri, M., additional, Selvatici, R., additional, Boffi, P., additional, Maioli, M. A., additional, Lochmüller, H., additional, Straub, V., additional, Bushby, K., additional, Castrignanò, T., additional, Pesole, G., additional, Sabatelli, P., additional, Merlini, L., additional, Braghetta, P., additional, Bonaldo, P., additional, Bernardi, P., additional, Foley, R., additional, Cirak, S., additional, Zaharieva, I., additional, Muntoni, F., additional, Capitanio, D., additional, Gelfi, C., additional, Kotelnikova, E., additional, Yuryev, A, additional, Lebowitz, M., additional, Zhang, X., additional, Hodge, B., additional, Esser, K. A., additional, and Ferlini, A., additional

Published
2016
Full Text
View/download PDF

41. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3

Author

Williams, NM, Franke, B, Mick, E, Anney, RJL, Freitag, CM, Gill, M, Thapar, A, O'Donovan, MC, Owen, MJ, Holmans, P, Kent, L, Middleton, F, Zhang-James, Y, Liu, L, Meyer, J, Nguyen, TT, Romanos, J, Romanos, M, Seitz, C, Renner, TJ, Walitza, S, Warnke, A, Palmason, H, Buitelaar, J, Rommelse, N, Vasquez, AA, Hawi, Z, Langley, K, Sergeant, J, Steinhausen, HC, Roeyers, Herbert, Biederman, J, Zaharieva, I, Hakonarson, H, Elia, J, Lionel, AC, Crosbie, J, Marshall, CR, Schachar, R, Scherer, SW, Todorov, A, Smalley, SL, Loo, S, Nelson, S, Shtir, C, Asherson, P, Reif, A, Lesch, KP, Faraone, SV, Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, and RS: CARIM School for Cardiovascular Diseases

Subjects
CANDIDATE GENE, Canada, Adolescent, alpha7 Nicotinic Acetylcholine Receptor, Genetics and epigenetic pathways of disease [NCMLS 6], DCN MP - Plasticity and memory, Gene Dosage, Inheritance Patterns, Social Sciences, ASSOCIATION SCAN, DCN PAC - Perception action and control, Nicotinic, MICRODUPLICATIONS, Medical and Health Sciences, Mental health [NCEBP 9], Fluorescence, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], MOLECULAR-GENETICS, SCHIZOPHRENIA, Receptors, mental disorders, ADHD, Humans, Genetic Predisposition to Disease, DCN PAC - Perception action and control NCEBP 9 - Mental health, Polymorphism, Child, Preschool, QH426, CHROMOSOMAL DELETIONS, In Situ Hybridization, Psychiatry, AUTISM SPECTRUM DISORDER, Psychology and Cognitive Sciences, Single Nucleotide, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], R1, United States, United Kingdom, NICOTINIC RECEPTOR, Causality, Segmental Duplications, Attention Deficit Disorder with Hyperactivity, Genomic, RC0321, Female, DEFICIT/HYPERACTIVITY DISORDER, Genome-Wide Association Study
Abstract

Item does not contain fulltext OBJECTIVE: Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology. METHOD: The authors performed a genome-wide analysis of large, rare CNVs (100 kb in size, which segregated into 912 independent loci. Overall, the rate of rare CNVs >100 kb was 1.15 times higher in ADHD case subjects relative to comparison subjects, with duplications spanning known genes showing a 1.2-fold enrichment. In accordance with a previous study, rare CNVs >500 kb showed the greatest enrichment (1.28-fold). CNVs identified in ADHD case subjects were significantly enriched for loci implicated in autism and in schizophrenia. Duplications spanning the CHRNA7 gene at chromosome 15q13.3 were associated with ADHD in single-locus analysis. This finding was consistently replicated in an additional 2,242 ADHD case subjects and 8,552 comparison subjects from four independent cohorts from the United Kingdom, the United States, and Canada. Presence of the duplication at 15q13.3 appeared to be associated with comorbid conduct disorder. CONCLUSIONS: These findings support the enrichment of large, rare CNVs in ADHD and implicate duplications at 15q13.3 as a novel risk factor for ADHD. With a frequency of 0.6% in the populations investigated and a relatively large effect size (odds ratio=2.22, 95% confidence interval=1.5-3.6), this locus could be an important contributor to ADHD etiology. 01 februari 2012

Published
2012

42. Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD

Author

Stergiakouli, E., Hamshere, M., Holmans, P., Langley, K., Zaharieva, I., Hawi, Z., Kent, L., Gill, M., Williams, N., Owen, M.J., O'Donovan, M., Thapar, A., Franke, B., Buitelaar, J.K., Arias Vasquez, A., and Sergeant, J.A.

Subjects
DCN MP - Plasticity and memory, mental disorders, DCN PAC - Perception action and control, DCN PAC - Perception action and control NCEBP 9 - Mental health, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]
Abstract

Item does not contain fulltext OBJECTIVE: A major motivation for seeking disease-associated genetic variation is to identify novel risk processes. Although rare copy number variants (CNVs) appear to contribute to attention deficit hyperactivity disorder (ADHD), common risk variants (single-nucleotide polymorphisms [SNPs]) have not yet been detected using genome-wide association studies (GWAS). This raises the concern as to whether future larger-scale, adequately powered GWAS will be worthwhile. The authors undertook a GWAS of ADHD and examined whether associated SNPs, including those below conventional levels of significance, influenced the same biological pathways affected by CNVs. METHOD: The authors analyzed genome-wide SNP frequencies in 727 children with ADHD and 5,081 comparison subjects. The gene sets that were enriched in a pathway analysis of the GWAS data (the top 5% of SNPs) were tested for an excess of genes spanned by large, rare CNVs in the children with ADHD. RESULTS: No SNP achieved genome-wide significance levels. As previously reported in a subsample of the present study, large, rare CNVs were significantly more common in case subjects than comparison subjects. Thirteen biological pathways enriched for SNP association significantly overlapped with those enriched for rare CNVs. These included cholesterol-related and CNS development pathways. At the level of individual genes, CHRNA7, which encodes a nicotinic receptor subunit previously implicated in neuropsychiatric disorders, was affected by six large duplications in case subjects (none in comparison subjects), and SNPs in the gene had a gene-wide p value of 0.0002 for association in the GWAS. CONCLUSIONS: Both common and rare genetic variants appear to be relevant to ADHD and index-shared biological pathways. 01 februari 2012

Published
2012

45. Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy

Author

Zaharieva, I., primary, Thor, M., additional, Oates, E., additional, Karnebeek, C., additional, Kamsteeg, E., additional, Hartley, L., additional, Blom, E., additional, Witting, N., additional, Rasmussen, M., additional, Gabbett, M., additional, Ravenscroft, G., additional, Hanna, M., additional, Ruben, P., additional, Lewis, S., additional, Mannikko, R., additional, and Muntoni, F., additional

Published
2015
Full Text
View/download PDF

50. OD08 - STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

Author

Zaharieva, I., Sarkozy, A., Manzur, A., Munot, P., O’Grady, G., Rendu, J., Amthor, H., Servais, L., Malfatti, E., Dixon, J., Poke, G., Donkervoort, S., Foley, A.R., Neto, O.L.A., Davis, M.R., Urtizberea, J.A., Bastaki, L., Romero, N.B., Oates, E.C., Holmes, C., Williams, G., Sframeli, M., Yum, S., Medne, L., Roy, S.Q., Fauré, J., Feng, L., Morgan, J.E., Bönnemann, C.G., Phadke, R., Sewry, C.A., Treves, S., and Muntoni, F.

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results