Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia von Allison, Rachel, Edgar, James R, Pearson, Guy, Rizo, Tania, Newton, Timothy, Günther, Sven, Berner, Fiamma, Hague, Jennifer, Connell, James W, Winkler, Jürgen, Lippincott-Schwartz, Jennifer, Beetz, Christian, Winner, Beate, Reid, Evan

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The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings von Skrahina, Volha, Gaber, Hanaa, Vollstedt, Eva‐Juliane, Förster, Toni M., Usnich, Tatiana, Curado, Filipa, Brüggemann, Norbert, Paul, Jefri, Bogdanovic, Xenia, Zülbahar, Selen, Olmedillas, Maria, Skobalj, Snezana, Ameziane, Najim, Bauer, Peter, Csoti, Ilona, Koleva‐Alazeh, Natalia, Grittner, Ulrike, Westenberger, Ana, Kasten, Meike, Beetz, Christian, Klein, Christine, Rolfs, Arndt

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SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism von Elert-Dobkowska, Ewelina, Stepniak, Iwona, Radziwonik-Fraczyk, Wiktoria, Jahic, Amir, Beetz, Christian, Sulek, Anna

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Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort von Bertoli-Avella, Aida M, Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K, Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A, Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter

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In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 von Varga, Rita-Eva, Khundadze, Mukhran, Damme, Markus, Nietzsche, Sandor, Hoffmann, Birgit, Stauber, Tobias, Koch, Nicole, Hennings, J Christopher, Franzka, Patricia, Huebner, Antje K, Kessels, Michael M, Biskup, Christoph, Jentsch, Thomas J, Qualmann, Britta, Braulke, Thomas, Kurth, Ingo, Beetz, Christian, Hübner, Christian A

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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? von Dinur, Tama, Bauer, Peter, Beetz, Christian, Kramp, Guido, Cozma, Claudia, Iurașcu, Marius-Ionuț, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana

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Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas von Smith, Miriam J, Wallace, Andrew J, Bennett, Chris, Hasselblatt, Martin, Elert-Dobkowska, Ewelina, Evans, Linton T, Hickey, William F, van Hoff, Jack, Bauer, David, Lee, Amy, Hevner, Robert F, Beetz, Christian, du Plessis, Daniel, Kilday, John-Paul, Newman, William G, Evans, D Gareth

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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots von Cozma, Claudia, Cullufi, Paskal, Kramp, Guido, Hovakimyan, Marina, Velmishi, Virtut, Gjikopulli, Agim, Tomori, Sonila, Fischer, Steffen, Oppermann, Sebastian, Grittner, Ulrike, Bauer, Peter, Beetz, Christian, Rolfs, Arndt

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Dual genetic diagnoses - underappreciated "double trouble" von Beetz, Christian, Bauer, Peter

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Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease von Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Skrahina, Volha, Zimran, Ari, Revel-Vilk, Shoshana

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Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology von Skrahina, Volha, Grittner, Ulrike, Beetz, Christian, Skripuletz, Thomas, Juenemann, Martin, Krämer, Heidrun H., Hahn, Katrin, Rieth, Andreas, Schaechinger, Volker, Patten, Monica, Tanislav, Christian, Achenbach, Stephan, Assmus, Birgit, Knebel, Fabian, Gingele, Stefan, Skrahin, Aliaksandr, Hartkamp, Jörg, Förster, Toni M., Roesner, Sabine, Pereira, Catarina, Rolfs, Arndt

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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system von Khundadze, Mukhran, Kollmann, Katrin, Koch, Nicole, Biskup, Christoph, Nietzsche, Sandor, Zimmer, Geraldine, Hennings, J Christopher, Huebner, Antje K, Symmank, Judit, Jahic, Amir, Ilina, Elena I, Karle, Kathrin, Schöls, Ludger, Kessels, Michael, Braulke, Thomas, Qualmann, Britta, Kurth, Ingo, Beetz, Christian, Hübner, Christian A

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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies von Auer-Grumbach, Michaela, Toegel, Stefan, Schabhüttl, Maria, Weinmann, Daniela, Chiari, Catharina, Bennett, David L.H., Beetz, Christian, Klein, Dennis, Andersen, Peter M., Böhme, Ilka, Fink-Puches, Regina, Gonzalez, Michael, Harms, Matthew B., Motley, William, Reilly, Mary M., Renner, Wilfried, Rudnik-Schöneborn, Sabine, Schlotter-Weigel, Beate, Themistocleous, Andreas C., Weishaupt, Jochen H., Ludolph, Albert C., Wieland, Thomas, Tao, Feifei, Abreu, Lisa, Windhager, Reinhard, Zitzelsberger, Manuela, Strom, Tim M., Walther, Thomas, Scherer, Steven S., Züchner, Stephan, Martini, Rudolf, Senderek, Jan

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Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure von Beetz, Christian, Johnson, Adam, Schuh, Amber L., Thakur, Seema, Varga, Rita-Eva, Fothergill, Thomas, Hertel, Nicole, Bomba-Warczak, Ewa, Thiele, Holger, Nürnberg, Gudrun, Altmüller, Janine, Saxena, Renu, Chapman, Edwin R., Dent, Erik W., Nürnberg, Peter, Audhya, Anjon

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Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center von Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D, Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K, Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian

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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy von Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan, Zhu, Tengfei, Tian, Qi, Xia, Lu, Wu, Huidan, Shen, Lu, Dong, Shanshan, Yang, Xinyi, Liu, Cenying, Ma, Linya, Zhang, Qiumeng, Khan, Rizwan, Shah, Abid Ali, Guo, Jifeng, Tang, Beisha, Leonardis, Lea, Writzl, Karin, Peterlin, Borut, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao

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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction von Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.

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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients von Al-Kindi, Adila, Al-Shehhi, Maryam, Westenberger, Ana, Beetz, Christian, Scott, Patrick, Brandau, Oliver, Abbasi-Moheb, Lia, Yüksel, Zafer, Bauer, Peter, Rolfs, Arndt, Grüning, Nana-Maria

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Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients von Radefeldt, Mandy, Stellmacher-Kaiser, Silke, Krake, Susann, Kragl, Brigitte, Lemke, Sabrina, Beetz, Christian, Bauer, Peter, Junghanß, Christian, Al-Ali, Ruslan

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome von Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A, Alhashem, Amal M, Ben-Omran, Tawfeg, Mahmoud, Iman G, Al Menabawy, Nihal M, Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt

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