Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism by Gläser, Anne, Hammerl, Franziska, Gräler, Markus H, Coldewey, Sina M, Völkner, Christin, Frech, Moritz J, Yang, Fan, Luo, Jiankai, Tönnies, Eric, von Bohlen Und Halbach, Oliver, Brandt, Nicola, Heimes, Diana, Neßlauer, Anna-Maria, Korenke, Georg Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Rolfs, Arndt, Wree, Andreas, Witt, Martin, Bräuer, Anja Ursula

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Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia by Kumar, Kishore R., Blair, Nicholas F., Vandebona, Himesha, Liang, Christina, Ng, Karl, Sharpe, David M., Grünewald, Anne, Gölnitz, Uta, Saviouk, Viatcheslav, Rolfs, Arndt, Klein, Christine, Sue, Carolyn M.

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility by Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt

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Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay by Cozma, Claudia, Eichler, Sabrina, Wittmann, Gyula, Flores Bonet, Alba, Kramp, Guido Johannes, Giese, Anne-Katrin, Rolfs, Arndt

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) by Rolfs, Arndt, Koeppen, Arnulf H., Bauer, Ingrid, Bauer, Peter, Buhlmann, Sven, Topka, Helge, Schöls, Ludger, Riess, Olaf

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17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a cas... by Wessel, Karen, Suleiman, Jehan, Khalaf, Tamam E, Kishore, Shivendra, Rolfs, Arndt, El-Hattab, Ayman W

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Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency by Jasinge, Eresha, Fernando, Mihika, Indika, Neluwa-Liyanage Ruwan, Ratnayake, Pyara Dilani, Gamaathige, Nalin, Ratnaranjith, Ratnanathan, Schroeder, Sabine, Jones, Patricia, Volha, Skrahina, Jayasena, Subhashinie, Gunaratna, Anusha Varuni, Bandara Ekanayake, Asitha Niroshana, Rolfs, Arndt

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A call for considering biochemical concepts in clinical genetics research by Bauer, Peter, Beetz, Christian, Rolfs, Arndt

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Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report by Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Lentze, Michael J., Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt

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Orexinergic innervation of the extended amygdala and basal ganglia in the rat by Schmitt, Oliver, Usunoff, Kamen G., Lazarov, Nikolai E., Itzev, Dimitar E., Eipert, Peter, Rolfs, Arndt, Wree, Andreas

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Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test by Feng, Xiao, Cozma, Claudia, Pantoom, Supansa, Hund, Christina, Iwanov, Katharina, Petters, Janine, Völkner, Christin, Bauer, Claudia, Vogel, Florian, Bauer, Peter, Weiss, Frank U, Lerch, Markus M, Knospe, Anne-Marie, Hermann, Andreas, Frech, Moritz J, Luo, Jiankai, Rolfs, Arndt, Lukas, Jan

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A comprehensive global genotype–phenotype database for rare diseases by Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt

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A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report by Jilani, Houweyda, Hsoumi, Faten, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Sebai, Molka, Rolfs, Arndt, Benjemaa, Lamia

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Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease by Petters, Janine, Cimmaruta, Chiara, Iwanov, Katharina, Chang, Matthew L., Völkner, Christin, Knuebel, Gudrun, Murua Escobar, Hugo, Frech, Moritz J., Hermann, Andreas, Rolfs, Arndt, Lukas, Jan

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Elucidating the sources of β-catenin dynamics in human neural progenitor cells by Mazemondet, Orianne, John, Mathias, Leye, Stefan, Rolfs, Arndt, Uhrmacher, Adelinde M

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ADAM10 negatively regulates neuronal differentiation during spinal cord development by Yan, Xin, Lin, Juntang, Talabattula, Venkata Ajay Narendra, Mußmann, Carolin, Yang, Fan, Wree, Andreas, Rolfs, Arndt, Luo, Jiankai

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Rapid Large-Scale COVID-19 Testing during Shortages by Beetz, Christian, Skrahina, Volha, Förster, Toni M., Gaber, Hanaa, Paul, Jefri J., Curado, Filipa, Rolfs, Arndt, Bauer, Peter, Schäfer, Stephan, Weckesser, Volkmar, Lieu, Vivi, Radefeldt, Mandy, Pöppel, Claudia, Krake, Susann, Kandaswamy, Krishna K., Bruesehafer, Katja, Vogel, Florian

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Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease by Samuelsson, Kristin, Kostulas, Konstantinos, Vrethem, Magnus, Rolfs, Arndt, Press, Rayomand

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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study by Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

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Differential astroglial activation in 6-hydroxydopamine models of Parkinson’s disease by Henning, Jeannette, Strauss, Ulf, Wree, Andreas, Gimsa, Jan, Rolfs, Arndt, Benecke, Reiner, Gimsa, Ulrike

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