Perfiles clínicos, bioquímicos y moleculares de tres neonatos de Sri Lanka con déficit de piruvato carboxilasa 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, Ekanayake, Asitha Niroshana Bandara, Rolfs, Arndt

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Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes by Yang, Fan, Feng, Xiao, Rolfs, Arndt, Luo, Jiankai

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Correction: CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study by Reetz, Kathrin, Kleiman, Alexandra, Klein, Christine, Lencer, Rebekka, Zuehlke, Christine, Brockmann, Kathrin, Rolfs, Arndt, Binkofski, Ferdinand

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Substrate reduction therapy for GBA1‐associated Parkinsonism: Are we betting on the wrong mouse? by Sidransky, Ellen, Arkadir, David, Bauer, Peter, Dinur, Tama, Lopez, Grisel, Rolfs, Arndt, Zimran, Ari

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families by Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian Er, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo Del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami

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High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses by Vaknin, Noam, Azoulay, Noy, Tsur, Erez, Tripolszki, Kornelia, Urzi, Alice, Rolfs, Arndt, Bauer, Peter, Achiron, Reuven, Lipitz, Shlomo, Goldberg, Yael, Berger, Rachel, Shohat, Mordechai

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GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects by Platzer, Konrad, Yuan, Hongjie, Schütz, Hannah, Winschel, Alexander, Chen, Wenjuan, Hu, Chun, Kusumoto, Hirofumi, Heyne, Henrike O, Helbig, Katherine L, Tang, Sha, Willing, Marcia C, Tinkle, Brad T, Adams, Darius J, Depienne, Christel, Keren, Boris, Mignot, Cyril, Frengen, Eirik, Strømme, Petter, Biskup, Saskia, Docker, Dennis, Strom, Tim M, Mefford, Heather C, Myers, Candace T, Muir, Alison M, LaCroix, Amy, Sadleir, Lynette, Scheffer, Ingrid E, Brilstra, Eva, van Haelst, Mieke M, van der Smagt, Jasper J, Bok, Levinus A, Møller, Rikke S, Jensen, Uffe B, Millichap, John J, Berg, Anne T, Goldberg, Ethan M, De Bie, Isabelle, Fox, Stephanie, Major, Philippe, Jones, Julie R, Zackai, Elaine H, Abou Jamra, Rami, Rolfs, Arndt, Leventer, Richard J, Lawson, John A, Roscioli, Tony, Jansen, Floor E, Ranza, Emmanuelle, Korff, Christian M, Lehesjoki, Anna-Elina, Courage, Carolina, Linnankivi, Tarja, Smith, Douglas R, Stanley, Christine, Mintz, Mark, McKnight, Dianalee, Decker, Amy, Tan, Wen-Hann, Tarnopolsky, Mark A, Brady, Lauren I, Wolff, Markus, Dondit, Lutz, Pedro, Helio F, Parisotto, Sarah E, Jones, Kelly L, Patel, Anup D, Franz, David N, Vanzo, Rena, Marco, Elysa, Ranells, Judith D, Di Donato, Nataliya, Dobyns, William B, Laube, Bodo, Traynelis, Stephen F, Lemke, Johannes R

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Persistent increase in cardiac troponin I in Fabry disease: a case report by Tanislav, Christian, Feustel, Andreas, Franzen, Wolfgang, Wüsten, Oliver, Schneider, Christian, Reichenberger, Frank, Rolfs, Arndt, Sieweke, Nicole

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Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice by Rabenstein, Michael, Murr, Nico, Hermann, Andreas, Rolfs, Arndt, Frech, Moritz J

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2-DE profiling of GDNF overexpression-related proteome changes in differentiating ST14A rat progenitor cells by Hoffrogge, Raimund, Beyer, Susanne, Hübner, Rayk, Mikkat, Stefan, Mix, Eilhard, Scharf, Christian, Schmitz, Ulf, Pauleweit, Stefan, Berth, Matthias, Zubrzycki, Igor Z., Christoph, Hilmar, Pahnke, Jens, Wolkenhauer, Olaf, Uhrmacher, Adelinde, Völker, Uwe, Rolfs, Arndt

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A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options by Jamrozik, Zygmunt, Szczudlik, Piotr, Ługowska, Agnieszka, Weiß, Stefan, Rolfs, Arndt, Czartoryska, Barbara, Kwieciński, Hubert

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D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic by Becker, Jana, Rolfs, Arndt, Karabul, Nesrin, Berlit, Peter, Kraemer, Markus

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Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke by Roos, Jessica, Müller, Stefanie, Giese, Anne, Appenzeller, Silke, Ringelstein, Erich Bernd, Fiehler, Jens, Berger, Klaus, Rolfs, Arndt, Hagel, Christian, Kuhlenbäumer, Gregor

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Efferent connections of the parabigeminal nucleus to the amygdala and the superior colliculus in the rat: A double-labeling fluorescent retrograde tracing study by Usunoff, Kamen G, Schmitt, Oliver, Itzev, Dimitar E, Rolfs, Arndt, Wree, Andreas

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Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study by McArdle, Patrick F, Malik, Rainer, Algra, Ale, Amouyel, Philippe, Anderson, Christopher D, Arsava, Ethem Murat, Ay, Hakan, Blanton, Susan H, Brown, Robert D, Burgess, Annette I, Chasman, Daniel I, Chen, Wei-Min, Cheng, Yu-Ching, Cotlarciuc, Ioana, Cruchaga, Carlos, Dave, Tushar, Dawson, Jesse, Delavaran, Hossein, Dell, Cameron A, Dichgans, Martin, Doheny, Kimberly F, Dong, Chuanhui, Duggan, David J, Fornage, Myriam, Frossard, Philippe M, Gamble, Dale M, Giralt-Steinhauer, Eva, Grewal, Raji P, Han, Buhm, Hankey, Graeme J, Heitsch, Laura, Higgins, Peter, Hopewell, Jemma C, Horenstein, Richard B, Howard, George, Ingelsson, Erik, Jackson, Rebecca D, Jern, Christina, Jood, Katarina, Kahn, Muhammad S, Kappelle, L Jaap, Kardia, Sharon L R, Keene, Keith L, Kissela, Brett M, Labovitz, Daniel, Lee, Cue Hyunkyu, Lee, Jin-Moo, Lehm, Manuel, Levi, Christopher, Leys, Didier, Maguire, Jane, Manichaikul, Ani, McClure, Leslie A, Mola-Caminal, Marina, Montaner, Joan, Müller-Nurasyid, Martina, Nalls, Mike A, O'Connell, Jeffrey R, O'Donnell, Martin, Papanicolaou, George J, Paré, Guillaume, Pera, Joanna, Peters, Annette, Rabionet, Raquel, Raffeld, Miriam R, Rannikmäe, Kristiina, Rasheed, Asif, Rexrode, Kathryn, Rolfs, Arndt, Rose, Lynda M, Sacco, Ralph L, Schmidt, Reinhold, Schürks, Markus, Segal, Helen C, Seiler, Stephan, Shuldiner, Alan R, Silver, Brian, Slowik, Agnieszka, Smith, Jennifer A, Söderholm, Martin, Sparks, Mary J, Sudlow, Cathie LM, Tajuddin, Salman M, Talbert, Robert L, Tatlisumak, Turgut, Thorsteindottir, Unnur, Tiedt, Steffen, Trompet, Stella, Waldenberger, Melanie, Wang, Liyong, Wassertheil-Smoller, Sylvia, Weir, David R, Wiggins, Kerri L, Wloch-Kopec, Dorota, Woodfield, Rebecca, Xu, Huichun, Zonderman, Alan B, Worrall, Bradford B, Kittner, Steven J, Arnett, Donna K Arnett

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Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar by Al-Dewik, Nader, Ben-Omran, Tawfeg, Zayed, Hatem, Trujillano, Daniel, Kishore, Shivendra, Rolfs, Arndt, Yassin, Mohamed A

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GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes by Franceschini, Nora, Giambartolomei, Claudia, de Vries, Paul S., Bis, Joshua C., Winkler, Thomas W., Graff, Misa, Kavousi, Maryam, Dale, Caroline, Hofer, Edith, van Leeuwen, Elisabeth M., Nolte, Ilja M., Lu, Lingyi, Pitkänen, Niina, Franzén, Oscar, Hwang, Shih-Jen, Musani, Solomon K., Schminke, Ulf, Palmas, Walter, Isaacs, Aaron, Correa, Adolfo, Zonderman, Alan B., Uitterlinden, André G., Wong, Andrew, Britton, Annie, Ruusalepp, Arno, Sennblad, Bengt, Hedblad, Bo, Pasaniuc, Bogdan, Penninx, Brenda W., Tzourio, Christophe, Fava, Cristiano, Baldassarre, Damiano, O’Leary, Daniel H., Tremoli, Elena, Schadt, Eric E., Ingelsson, Erik, Veglia, Fabrizio, Rivadeneira, Fernando, Beutner, Frank, Chauhan, Ganesh, Heiss, Gerardo, Snieder, Harold, Völzke, Henry, Markus, Hugh S., Deary, Ian J., Price, Jacqueline, Hopewell, Jemma C., Thiery, Joachim, Engmann, Jorgen, Rice, Kenneth, Taylor, Kent D., Dhana, Klodian, Lind, Lars, Holdt, Lesca M., Dörr, Marcus, Dichgans, Martin, Kivimaki, Mika, Melander, Olle, Raitakari, Olli, Franco, Oscar H., Rueda-Ochoa, Oscar L., Roussos, Panos, Whincup, Peter H., Giral, Philippe, Rauramaa, Rainer, Burkhardt, Ralph, Wannamethee, S. Goya, McLachlan, Stela, Trompet, Stella, Seshadri, Sudha, Kurl, Sudhir, Ring, Susan, Harris, Tamara B., Lehtimäki, Terho, Galesloot, Tessel E., Shah, Tina, Plagnol, Vincent, Rosamond, Wayne D., Post, Wendy, Zhu, Xiaofeng, Dehghan, Abbas, Seldenrijk, Adrie, Morrison, Alanna C., Hamsten, Anders, Psaty, Bruce M., Lawlor, Deborah A., Schmidt, Helena, Wilson, James F., Rotter, Jerome I., Wardlaw, Joanna M., Deanfield, John, Loeffler, Markus, Debette, Stéphanie, Humphries, Steve E., Völker, Uwe, Gudnason, Vilmundur, Hingorani, Aroon D., Björkegren, Johan L. M., Casas, Juan P., O’Donnell, Christopher J.

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Misfolding of Lysosomal [alpha]-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat by Braunstein, Hila, Papazian, Maria, Maor, Gali, Lukas, Jan, Rolfs, Arndt, Horowitz, Mia

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Contribution of lyso-Gb1 to treatment decisions in patients with Gaucher disease by Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen Joleen, Rolfs, Arndt, Zimran, Ari, Revel-Vilk, Shoshana

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A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion by Musa, Noha, Elmonem, Mohamed A., Beetz, Christian, Hafez, Mona, Hassan, Mona, Rolfs, Arndt, Selim, Laila, Elkhateeb, Nour

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