Rezultati - Grønborg, Sabine

Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders od Grønborg, Sabine, Krätzner, Ralph, Rosewich, Hendrik, Gärtner, Jutta

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Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients od Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta

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Case report: ‘AARS2 leukodystrophy’ od Axelsen, Tobias Melton, Vammen, Tzvetelina Lubenova, Bak, Mads, Pourhadi, Nelsan, Stenør, Christian Midtgaard, Grønborg, Sabine

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Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review od Videbæk, Cecilie, Stokholm, Jette, Sengeløv, Henrik, Fjeldborg, Lone U., Larsen, Vibeke Andrée, Krarup, Christian, Nielsen, Jørgen E., Grønborg, Sabine

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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course od Grønborg, Sabine, Risom, Lotte, Ek, Jakob, Larsen, Karen Bonde, Scheie, David, Petkov, Yanko, Larsen, Vibeke André, Dunø, Morten, Joensen, Fróði, Østergaard, Elsebet

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Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene od Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine

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Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling od Grønborg, Sabine, Darin, Niklas, Miranda, Maria J., Damgaard, Bodil, Cayuela, Jorge Asin, Oldfors, Anders, Kollberg, Gittan, Hansen, Thomas V. O., Ravn, Kirstine, Wibrand, Flemming, Østergaard, Elsebet

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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG od Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva

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Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene od Bech, Sara, Løkkegaard, Annemette, Nielsen, Troels T., Nørremølle, Anne, Grønborg, Sabine, Hasholt, Lis, Steffensen, Gudrun K., Graehn, Gabor, Olesen, Jess H., Tommerup, Niels, Mang, Yuan, Bak, Mads, Nielsen, Jørgen E., Eiberg, Hans, Hjermind, Lena E.

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Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H od Mulkey, Sarah B., Ben-Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong-hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta

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Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study od Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, í Dali, Christine

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Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study od Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, Dali, Christine í

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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init... od Schoenmakers, Daphne H., Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G., Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M., Hollak, Carla E. M., Lindemans, Caroline, Mochel, Fanny, Mol, Peter G. M., Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I.

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Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment... od Mengel, Eugen, Patterson, Marc C., Da Riol, Rosalia M., Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Havnsøe Torp Petersen, Nikolaj, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, í Dali, Christine

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Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients od Weckhuysen, Sarah, Ivanovic, Vanja, Hendrickx, Rik, Van Coster, Rudy, Hjalgrim, Helle, Møller, Rikke S., Grønborg, Sabine, Schoonjans, An-Sofie, Ceulemans, Berten, Heavin, Sinead B., Eltze, Christin, Horvath, Rita, Casara, Gianluca, Pisano, Tiziana, Giordano, Lucio, Rostasy, Kevin, Haberlandt, Edda, Albrecht, Beate, Bevot, Andrea, Benkel, Ira, Syrbe, Steffan, Sheidley, Beth, Guerrini, Renzo, Poduri, Annapurna, Lemke, Johannes R., Mandelstam, Simone, Scheffer, Ingrid, Angriman, Marco, Striano, Pasquale, Marini, Carla, Suls, Arvid, De Jonghe, Peter

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Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients od Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R

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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum od Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido

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Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling. od Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, de Villemeur, Thierry Billette, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., den Hollander, Nicolette, Hoffer, Mariëtte J V, Reijnders, Margot R.F., Demirda, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Tezcan, Kamer, Schaefer, G. B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gecz, Jozef, Jolly, Lachlan A.

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