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Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4 血清NfL，但不是GFAP，能区分原发性侧索硬化和肾上腺脊髓神经病以及遗传性痉挛性截瘫痷4型。 Kessler, Christoph; Wilke, Carlo; Hengel, Holger; Rattay, Tim W.; Maleska Maceski, Aleksandra; Kuhle, Jens; Schols, Ludger; Schule, Rebecca 分享 收藏
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Longitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response Theory 项目反应理论对罕见和超罕见小脑共济失调自然史进展的纵向分析 Hamdan, Alzahra; Hendrickx, Niels; Hooker, Andrew C.; Chen, Xiaomei; Comets, Emmanuelle; Traschuetz, Andreas; Schuele, Rebecca; Mentre, France; Synofzik, Matthis; Karlsson, Mats O. 分享 收藏
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study Tunca, Ceren; Camadan, Eylul Ece Islek; Smolina, Natalia; Palvadeau, Robin J.; Cakmak, Ozgur Oztop; Vural, Atay; Traschuetz, Andreas; Santorelli, Filippo M.; Brais, Bernard; Schuele, Rebecca; Synofzik, Matthis; Basak, A. Nazli 分享 收藏
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf 分享 收藏
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study Scaravilli, Alessandra; Negroni, Davide; Senatore, Claudio; Ugga, Lorenzo; Cosottini, Mirco; Ricca, Ivana; Bender, Benjamin; Traschuetz, Andreas; Basak, Ayse Nazli; Vural, Atay; van de Warrenburg, Bart P.; Durr, Alexandra; La Piana, Roberta; Timmann, Dagmar; Schuele, Rebecca; Synofzik, Matthis; Santorelli, Filippo Maria; Cocozza, Sirio 分享 收藏
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX) Beichert, Lukas; Ilg, Winfried; Kessler, Christoph; Traschuetz, Andreas; Reich, Selina; Santorelli, Filippo M.; Basak, Ayse Nazli; Gagnon, Cynthia; Schuele, Rebecca; Synofzik, Matthis 分享 收藏
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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases 针对罕见神经系统疾病患者的最佳跨学科管理和医疗机构的建议 Graessner, Holm; Reinhard, Carola; Baeumer, Tobias; Baumgaertner, Annette; Brockmann, Knut; Brueggemann, Norbert; Bueltmann, Eva; Erdmann, Jeanette; Heise, Kirstin; Hoeglinger, Guenter; Huening, Irina; Kaiser, Frank J.; Klein, Christine; Klopstock, Thomas; Kraegeloh-Mann, Ingeborg; Kraemer, Markus; Luedtke, Kerstin; Muecke, Martin; Musacchio, Thomas; Nadke, Andreas; Osmanovic, Alma; Ritter, Gabriele; Roese, Katharina; Schippers, Christopher; Schoels, Ludger; Schuele, Rebecca; Schulz, Jorg B.; Spross, Joachim; Stasch, Eveline; Wunderlich, Gilbert; Muenchau, Alexander 分享 收藏
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Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations Aartsma-Rus, Annemieke; van Roon-Mom, Willeke; Lauffer, Marlen; Siezen, Christine; Duijndam, Britt; Coenen-de Roo, Tineke; Schuele, Rebecca; Synofzik, Matthis; Graessner, Holm 分享 收藏
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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease 由于FICD的去ampylation功能丧失而导致的BiP失活导致运动神经元疾病 Rebelo, Adriana P.; Ruiz, Ariel; Dohrn, Maike F.; Wayand, Melanie; Farooq, Amjad; Danzi, Matt C.; Beijer, Danique; Aaron, Brooke; Vandrovcova, Jana; Houlden, Henry; Matalonga, Leslie; Abreu, Lisa; Rouleau, Guy; Estiar, Mehrdad A.; Van de Vondel, Liedewei; Gan-Or, Ziv; Baets, Jonathan; Schuele, Rebecca; Zuchner, Stephan 分享 收藏
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