Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

af Grønborg, Sabine, Krätzner, Ralph, Rosewich, Hendrik, Gärtner, Jutta
Udgivet 2011

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

af Thoms, Sven, Grønborg, Sabine, Rabenau, Jana, Ohlenbusch, Andreas, Rosewich, Hendrik, Gärtner, Jutta
Udgivet 2011

Case report: ‘AARS2 leukodystrophy’

af Axelsen, Tobias Melton, Vammen, Tzvetelina Lubenova, Bak, Mads, Pourhadi, Nelsan, Stenør, Christian Midtgaard, Grønborg, Sabine
Udgivet i Mol Genet Metab Rep (2021)

Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review

af Videbæk, Cecilie, Stokholm, Jette, Sengeløv, Henrik, Fjeldborg, Lone U., Larsen, Vibeke Andrée, Krarup, Christian, Nielsen, Jørgen E., Grønborg, Sabine
Udgivet i JIMD Rep (2021)

A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

af Grønborg, Sabine, Risom, Lotte, Ek, Jakob, Larsen, Karen Bonde, Scheie, David, Petkov, Yanko, Larsen, Vibeke André, Dunø, Morten, Joensen, Fróði, Østergaard, Elsebet
Udgivet i Eur J Hum Genet (2018)

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

af Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine
Udgivet i JIMD Rep (2019)

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

af 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
Udgivet i JIMD Rep (2016)

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

af 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
Udgivet i Genet Med (2020)

Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

af 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.
Udgivet i Mov Disord (2020)

Neonatal Non-Epileptic Myoclonus is a Prominent Clinical Feature of KCNQ2 Gain-of-Function Variants R201C and R201H

af 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
Udgivet i Epilepsia (2017)

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

af 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
Udgivet i Orphanet J Rare Dis (2020)

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

af 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
Udgivet i Orphanet J Rare Dis (2021)

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

af 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
Udgivet 2013

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

af 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
Udgivet i Genet Med (2017)

Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling.

af 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.
Udgivet i Biol Psychiatry (2019)