المؤلفون: Hendrickx, Niels, Mentré, France, Traschütz, Andreas, Gagnon, Cynthia, Schüle, Rebecca, Synofzik, Matthis, Comets, Emmanuelle

المصدر: AAPS Journal; Jun2024, Vol. 26 Issue 3, p1-13, 13p

المؤلفون: Ehnert, Sabrina, Hauser, Stefan, Hengel, Holger, Höflinger, Philip, Schüle, Rebecca, Lindig, Tobias, Baets, Jonathan, Deconinck, Tine, de Jonghe, Peter, Histing, Tina, Nüssler, Andreas K., Schöls, Ludger, Rattay, Tim W.

المصدر: Scientific Reports; 3/27/2024, Vol. 14 Issue 1, p1-9, 9p

مصطلحات موضوعية: VITAMIN deficiency, BONE densitometry, FAMILIAL spastic paraplegia, HOMEOSTASIS, OSTEOPENIA, HYDROXYCHOLESTEROLS, PARAPLEGIA, COLLAGEN

المؤلفون: Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B., Synofzik, Matthis

المصدر: Journal of Neurology; Aug2023, Vol. 270 Issue 8, p4112-4117, 6p

مصطلحات موضوعية: SPINOCEREBELLAR ataxia, NUCLEOTIDE sequencing, ATAXIA, FRIEDREICH'S ataxia, SHORT tandem repeat analysis

المؤلفون: Bis-Brewer, Dana M, Gan-Or, Ziv, Tarnopolsky, Mark, Boycott, Kym M, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E, Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan, Sleiman, Patrick, Rodriguez, Aixa, Bacha, Alexa, Kosikowski, Ashley, Wood, Beth, McCray, Brett, Blume, Brianna, Siskind, Carly, Sumner, Charlotte, Calabrese, Daniela, Walk, David, Consortium, Inherited Neuropathy, Vujovic, Dragan, Park, Eun, Muntoni, Francesco, Donlevy, Gabrielle, Acsadi, Gyula, Day, John, Burns, Joshua, Li, Jun, Krajewski, Karen, Eichinger, Kate, Hakonarson, Hakon, Cornett, Kayla, Mullen, Krista, Perez, Laura, Gutmann, Laurie, Barrett, Maria, Saporta, Mario, Skorupinska, Mariola, Grant, Natalie, Bray, Paula, Seyedsadjadi, Reza, Fazal, Sarah, Zuccarino, Riccardo, Finkel, Richard, Lewis, Richard, Yum, Sabrina, Hilbert, Sarah, Thomas, Simone, Behrens-Spraggins, Steffen, Jones, Tara, Grider, Tiffany, Estilow, Tim, Courel, Steve, Fridman, Vera, Reilly, Mary M, Shy, Michael E, Bacon, Chelsea J, Feely, Shawna M E, Rossor, Alexander M, Herrmann, David N, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A

المصدر: Genetics in medicine 22(12), 2114-2119 (2020). doi:10.1038/s41436-020-0924-0
Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Non-Mendelian inheritance, medicine.medical_specialty, Hereditary spastic paraplegia, 030105 genetics & heredity, Biology, Charcot–Marie–Tooth disease, Article, 03 medical and health sciences, symbols.namesake, Hereditary Spastic Paraplegia, Charcot-Marie-Tooth Disease, genetics [Spastic Paraplegia, Hereditary], Exome Sequencing, medicine, Humans, oligogenic inheritance, ddc:610, Allele, hereditary spastic paraplegia, Exome, Genetics (clinical), Alleles, inherited axonopathy, diagnosis [Charcot-Marie-Tooth Disease], Genetics, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Oligogenic Inheritance, medicine.disease, diagnosis [Spastic Paraplegia, Hereditary], 030104 developmental biology, Mutation, Mendelian inheritance, symbols, Medical genetics, genetics [Charcot-Marie-Tooth Disease], mutational burden

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25bf234d0a13befa8fe2b2ef2e02958
https://pub.dzne.de/record/154375

المؤلفون: Rattay, Tim W., Boldt, Andreas, Völker, Maximilian, Wiethoff, Sarah, Hengel, Holger, Schüle, Rebecca, Schöls, Ludger

المصدر: Journal of Neurology; Feb2020, Vol. 267 Issue 2, p369-379, 11p, 4 Charts, 1 Graph

مصطلحات موضوعية: FAMILIAL spastic paraplegia, MOTOR neuron diseases, MONTREAL Cognitive Assessment, RESTLESS legs syndrome, QUALITY of life, GAIT disorders

المؤلفون: Schüle, Rebecca, Schöls, Ludger

المصدر: Movement Disorder Genetics; 2015, p353-383, 31p

المؤلفون: Lindig, Tobias, Bender, Benjamin, Hauser, Till-Karsten, Mang, Sarah, Schweikardt, Daniel, Klose, Uwe, Karle, Kathrin N., Schüle, Rebecca, Schöls, Ludger, Rattay, Tim W.

المصدر: Journal of Neurology; Aug2015, Vol. 262 Issue 8, p1961-1971, 11p, 5 Color Photographs

مصطلحات موضوعية: PARAPLEGIA, LEG diseases, PARALYSIS, THALAMUS, DIENCEPHALON

المؤلفون: Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca

المصدر: European Journal of Human Genetics; Nov2013, Vol. 21 Issue 11, p1214-1218, 5p

مصطلحات موضوعية: PHOSPHOLIPASE D, FAMILIAL spastic paraplegia, SPASTICITY, DELETION mutation, CHROMOSOME abnormalities, LIPID metabolism disorders, GENETICS

المؤلفون: Dufke, Claudia, Schlipf, Nina, Schüle, Rebecca, Bonin, Michael, Auer-Grumbach, Michaela, Stevanin, Giovanni, Depienne, Christel, Kassubek, Jan, Klebe, Stephan, Klimpe, Sven, Klopstock, Thomas, Otto, Susanne, Poths, Sven, Seibel, Andrea, Stolze, Henning, Gal, Andreas, Schöls, Ludger, Bauer, Peter

المصدر: Neurogenetics; Aug2012, Vol. 13 Issue 3, p215-227, 13p

المؤلفون: Schüle, Rebecca, Brandt, Elisabeth, Karle, Kathrin, Tsaousidou, Maria, Klebe, Stephan, Klimpe, Sven, Auer-Grumbach, Michaela, Crosby, Andrew, Hübner, Christian, Schöls, Ludger, Deufel, Thomas, Beetz, Christian

المصدر: Neurogenetics; Apr2009, Vol. 10 Issue 2, p97-104, 8p, 2 Charts, 3 Graphs