Safety, pharmacokinetics and target engagement of novel RIPK1 inhibitor SAR443060 (DNL747) for neurodegenerative disorders: Randomized, placebo‐controlled, double‐blind phase I/Ib... von Vissers, Maurits F. J. M., Heuberger, Jules A. A. C., Groeneveld, Geert Jan, Oude Nijhuis, Jerome, De Deyn, Peter Paul, Hadi, Salah, Harris, Jeffrey, Tsai, Richard M., Cruz‐Herranz, Andres, Huang, Fen, Tong, Vincent, Erickson, Rebecca, Zhu, Yuda, Scearce‐Levie, Kimberly, Hsiao‐Nakamoto, Jennifer, Tang, Xinyan, Chang, Megan, Fox, Brian M., Estrada, Anthony A., Pomponio, Robert J., Alonso‐Alonso, Miguel, Zilberstein, Moshe, Atassi, Nazem, Troyer, Matthew D., Ho, Carole

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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? von Kroos, Marian A, Mullaart, Reinier A, Van Vliet, Laura, Pomponio, Robert J, Amartino, Hernan, Kolodny, Edwin H, Pastores, Gregory M, Wevers, Ron A, Van der Ploeg, Ans T, Halley, Dicky J J, Reuser, Arnold J J

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The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa von Baek, Rena C., Palmer, Rachel, Pomponio, Robert J., Lu, Yuefeng, Ma, Xiwen, McVie-Wylie, Alison J.

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Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating von Kroos, Marian, Pomponio, Robert J, van Vliet, Laura, Palmer, Rachel E, Phipps, Michael, Van der Helm, Robert, Halley, Dicky, Reuser, Arnold

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Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay von Wolf, Pavlina, Alcalay, Roy N., Liong, Christopher, Cullen, Emmaline, Pauciulo, Michael W., Nichols, William C., Gan-Or, Ziv, Chung, Wendy K., Faulkner, Tina, Bentis, Christopher, Pomponio, Robert J., Ma, Xiwen, Kate Zhang, X., Keutzer, Joan M., Oliva, Petra

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Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program von Labrousse, Paul, Chien, Yin-Hsiu, Pomponio, Robert J., Keutzer, Joan, Lee, Ni-Chung, Akmaev, Viatcheslav R., Scholl, Thomas, Hwu, Wuh-Liang

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Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response von Pomponio, Robert J

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Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations von Oba-Shinjo, Sueli M., da Silva, Roseli, Andrade, Fernanda G., Palmer, Rachel E., Pomponio, Robert J., Ciociola, Kristina M., S. Carvalho, Mary, Gutierrez, Paulo S., Porta, Gilda, Marrone, Carlo D., Munoz, Verônica, Grzesiuk, Anderson K., Llerena, Juan C., Berditchevsky, Célia R., Sobreira, Claudia, Horovitz, Dafne, Hatem, Thamine P., Frota, Elizabeth R. C., Pecchini, Rogerio, Kouyoumdjian, João Aris, Werneck, Lineu, Amado, Veronica M., Camelo, José S., Mattaliano, Robert J., Marie, Suely K. N.

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Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations von Palmer, Rachel E, Amartino, Hernan M, Niizawa, Gabriela, Blanco, Mariana, Pomponio, Robert J, Chamoles, Nestor A

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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children von NORRGARD, K. J, POMPONIO, R. J, HYMES, J, WOLF, B

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Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children : Molecular, biochemical, and clinical analysis von POMPONIO, R. J, HYMES, J, REYNOLDS, T. R, MEYERS, G. A, FLEISCHHAUER, K, BUCK, G. A, WOLF, B

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Structure of the human biotinidase gene von Knight, H C, Reynolds, T R, Meyers, G A, Pomponio, R J, Buck, G A, Wolf, B

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The sex ratio of normal and manipulated human sperm quantitated by the polymerase chain reaction von Lobel, Susan M., Pomponio, Robert J., Mutter, George L.

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Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations von Blanton, Susan Halloran, Pandya, Arti, Landa, Barbara L., Javaheri, Razieh, Xia, Xia-Juan, Nance, Walter E., Pomponio, Robert J., Norrgard, Karen J., Swango, Katie L., Demirkol, Mübeccel, Gülden, Hüner, Coskun, Turgay, Tokatli, Aysegül, Ozalp, Imran, Wolf, Barry

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Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency von Pomponio, R.J, Reynolds, T.R, Cole, H, Buck, G.A, Wolf, B

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Delayed-onset profound biotinidase deficiency von Wolf, Barry, Pomponio, Robert J., Norrgard, Karen J., Lott, Ira T., Baumgartner, E.Regula, Suormala, Terttu, Ramaekers, Vincent Th, Coskun, Turgay, Tokatli, Aysegul, Ozalp, Imran, Hymes, Jeanne

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Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast von MUTTER, G. L, STEWART, C. L, CHAPONOT, M. L, POMPONIO, R. J

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Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children von POMPONIO, R. J, NORRGARD, K. J, HYMES, J, REYNOLDS, T. R, BUCK, G. A, BAUMGARTNER, R, SUORMALA, T, WOLF, B

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Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene von Pomponio, Robert J., Reynolds, Thomas R., Mandel, Hanna, Admoni, Osnat, Melone, Pamela D., Buck, Gregory A., Wolf, Barry

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Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency von Pomponio, Robert J., Yamaguchi, Akihiro, Arashima, Shinichiro, Hymes, Jeanne, Wolf, Barry

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