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5. Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model

Author

Kojak, Nada, primary, Kuno, Junko, additional, Fittipaldi, Kristina E, additional, Khan, Ambereen, additional, Wenger, David, additional, Glasser, Michael, additional, Donnianni, Roberto A, additional, Tang, Yajun, additional, Zhang, Jade, additional, Huling, Katie, additional, Ally, Roxanne, additional, Mujica, Alejandro O, additional, Turner, Terrence, additional, Magardino, Gina, additional, Huang, Pei Yi, additional, Kerk, Sze Yen, additional, Droguett, Gustavo, additional, Prissette, Marine, additional, Rojas, Jose, additional, Gomez, Teodoro, additional, Gagliardi, Anthony, additional, Hunt, Charleen, additional, Rabinowitz, Jeremy S, additional, Gong, Guochun, additional, Poueymirou, William, additional, Chiao, Eric, additional, Zambrowicz, Brian, additional, Siao, Chia-Jen, additional, and Kajimura, Daisuke, additional

Published
2024
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10. List of contributors

Author

Ah Mew, Nicholas, primary, Akamatsu, Wado, additional, Akman, Hasan Orhan, additional, AlHakeem, Afnan, additional, Aoyama, Koji, additional, Artuch, Rafael, additional, Beck, Michael, additional, Bennett, C. Frank, additional, Berry, Gerard T., additional, Bissell, D. Montgomery, additional, Canine, Brenda, additional, Caskey, C. Thomas, additional, Casy, Widler, additional, Chinnery, Patrick F., additional, Chuang, David T., additional, Cook, Emily K., additional, Cox, Rody P., additional, De Jager, Philip L., additional, Demirbas, Didem, additional, Desnick, Robert J., additional, DiMauro, Salvatore, additional, Eichler, Florian S., additional, Elger, Bernice, additional, Emmanuele, Valentina, additional, Evans, Patricia, additional, Fogel, Brent L., additional, García-Cazorla, Àngels, additional, Gellera, Cinzia, additional, Golla, Sailaja, additional, Goodspeed, Kimberly, additional, Gospe, Sidney M., additional, Gray, Steven J., additional, Gropman, Andrea L., additional, Gu, Yian, additional, Guerrini, Renzo, additional, Gunn, Teresa M., additional, Hadziahmetovic, Una, additional, Haffner, Darrah, additional, Hagerman, R.J., additional, Harel, Tamar, additional, Head, Elizabeth, additional, Horvath, Rita, additional, Hosoi, Yasushi, additional, Hou, Ying-Chen Claire, additional, Hsiao, Jane, additional, Ishiura, Hiroyuki, additional, Jack, Clifford R., additional, Jakkamsetti, Vikram, additional, Johnson†, William G., additional, Jotterand, Fabrice, additional, Kane, John P., additional, Khorkova, Olga, additional, Kinoshita, Chisato, additional, Klompe, Sanne E., additional, Koehl, Lisa M., additional, Kruer, Michael C., additional, Kukull, Walter A., additional, Lane, Roger M., additional, Lee, Joseph H., additional, Leigh, M.J., additional, Ling, Qinglan, additional, Lupski, James R., additional, Luzi, Paola, additional, Ma, Qian, additional, Maegawa, Gustavo H.B., additional, Malloy, Mary J., additional, Margolis, Seth S., additional, Marin-Valencia, Isaac, additional, Mastrianni, James A., additional, Matalon, Dena, additional, Matalon, Reuben, additional, Matalon Rd, Kimberlee Michals, additional, Mathews, Jennifer M., additional, Mayeux, Richard, additional, McCurdy, Jennifer, additional, Meltzer, Meira R., additional, Menkes†, John H., additional, Miron, Justin, additional, Mitsui, Jun, additional, Miyajima, Hiroaki, additional, Monteggia, Lisa M., additional, Morris, Mary Ann, additional, Moser†, Hugo W., additional, Murray, Melissa E., additional, Nakaki, Toshio, additional, Nilsson, Nathalie, additional, Nishino, Ichizo, additional, Nordlie, Sandra M.H., additional, Nussbaum, Robert L., additional, Nyhan, William L., additional, Okano, Hideyuki, additional, Padilla-Lopez, Sergio, additional, Parrini, Elena, additional, Pascual, Juan M., additional, Pastores, Gregory M., additional, Patel, Shailendra B., additional, Patterson, Marc C., additional, Pena, Izabella A., additional, Picard, Cynthia, additional, Poirier, Judes, additional, Posey, Jennifer E., additional, Raymond, Gerald V., additional, Renthal, William, additional, Rosenblatt, David S., additional, Rossignol, Francis, additional, Salen, Gerald, additional, Sandhoff, Konrad, additional, Schiffmann, Raphael, additional, Schindler, Detlev, additional, Schmitt, Frederick A., additional, Schneider, Susanne A., additional, Schon, Eric A., additional, Schuchman, Edward H., additional, Seashore, Margretta Reed, additional, Shaffo, Frances C., additional, Shevell, Michael, additional, Sinnett, Sarah E., additional, Srour, Myriam, additional, Sternberg, Samuel H., additional, Sugie, Kazuma, additional, Szabla, Kristen L., additional, Taroni, Franco, additional, Tedeschi Dauar, Marina, additional, Tsuji, Shoji, additional, Uhlmann, Wendy R., additional, van Karnebeek, Clara, additional, Van Pelt, Kathryn L., additional, Vemuri, Prashanthi, additional, Venditti, Charles P., additional, Wahlestedt, Claes, additional, Wang, Bruce, additional, Watkins, David, additional, Wenger, David A., additional, Williams, Charles A., additional, Wilson, Golder N., additional, Wolf, Barry, additional, Wynn, R. Max, additional, and Yu, Hung-Chun, additional

Published
2020
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18. List of Contributors

Author

Abbott, M.A., Akamatsu, Wado, Akman, Hasan Orhan, AlHakeem, Afnan, Ali, Sheliza, AlMutiri, Rowim, Aoyama, Koji, Artuch, Rafael, Aumont-Rodrigue, Gabriel, Baril, Andrée-Ann, Barshop, Bruce A., Beck, Michael, Bennett, C. Frank, Berry, Gerard T., Boitnott, Andrea, Calame, Daniel G., Canine, Brenda, Casy, Widler, Chinnery, Patrick F., Chuang, David T., De Jager, Philip L., Demirbas, Didem, Desnick, Robert J., DiMauro, Salvatore, d’Azzo, A., Eichler, Florian S., Elmquist, Joel K., Emmanuele, Valentina, Engelen, Marc, Esteves, S., Evans, Patricia, Fogel, Brent L., Fremuth, L.E., Gallagher, J., García-Cazorla, Àngels, Garza, Irvin T., Glueck, Amanda C., Golla, Sailaja, Goodarzi, Mohammad, Goodspeed, Kimberly, Gray, Steven J., Gray-Edwards, H., Gropman, Andrea L., Guerrini, Renzo, Guldner, Ian H., Gunn, Teresa M., Haffner, Darrah, Hagerman, R.J., Harel, Tamar, Harp, Jordan P., Head, Elizabeth, Horvath, Rita, Ishii, Makoto, Ishiura, Hiroyuki, Jakkamsetti, Vikram, Jalazo, Elizabeth R., Khorkova, Olga, Kinoshita, Chisato, Kukull, Walter A., Lane, Roger, Latham, Stephen R., Leigh, M.J., Ling, Qinglan, Lupski, James R., Luzi, Paola, Ma, Qian, Maegawa, Gustavo H.B., Marin-Valencia, Isaac, Mastrianni, James A., Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben, Mathews, Jennifer M., Megagiannis, Platon, Mehta, Nikita, Meltzer, Meira R., Mengel, Eugen, Mew, Nicholas Ah, Millar Vernetti, Patricio, Mitsui, Jun, Monteggia, Lisa M., Morris, Mary Ann, Moser, Hugo W., Murray, Melissa E., Nakaki, Toshio, Nishino, Ichizo, Noble, Denis, Nussbaum, Robert L., Nyhan, William L., Okano, Hideyuki, Parrini, Elena, Pascual, Juan M., Pastores, Gregory M., Patterson, Marc C., Piazza, Michelle K., Picard, Cynthia, Poirier, Judes, Pomerantz, Daniel J., Posey, Jennifer E., Raymond, Gerald V., Renthal, William, Rossignol, Francis, Rouleau, Guy A., Saez-Calveras, Nil, Sandhoff, Konrad, Schiffmann, Raphael, Schindler, Detlev, Schmitt, Frederick A., Schon, Eric A., Schuchman, Edward H., Seashore, Margretta Reed, Sena-Esteves, M., Shaffo, Frances C., Shevell, Michael, Shishodia, Gauri, Sinnett, Sarah E., Srour, Myriam, Stevens, Hannah A., Sugie, Kazuma, Taylor, Alexa, Tedeschi Dauar, Marina, Thinwa, Josephine, Tifft, C., Tsuji, Shoji, Uhlmann, Wendy R., Van Pelt, Kathryn L., Vemuri, Prashanthi, Vernino, Steven, Wahlestedt, Claes, Wang, Bruce, Weesner, J.A., Wenger, David A., Williams, Kevin W., Wolf, Nicole I., Wolfe, John H., Wynn, R. Max, Wyss-Coray, Tony, Yingling, N., and Zhou, Yang

Published
2025
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21. Improved Gene Therapy for Metachromatic Leukodystrophy

Author

Tricoli, Lucas, Vanderver, Adeline, Adang, Laura, Chappell, Maxwell, Breda, Laura, Tanaka, Naoto, Wenger, David, Guerra, Amaliris, Triebwasser, Michael, Kurre, Peter, Schlotawa, Lars, Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca, Hurwitz, Stephanie, and Rivella, Stefano

Published
2022

27. Improved Gene Therapy for Metachromatic Leukodystrophy

Author

Tricoli, Lucas, primary, Vanderver, Adeline, additional, Adang, Laura, additional, Chappell, Maxwell, additional, Breda, Laura, additional, Tanaka, Naoto, additional, Triebwasser, Michael, additional, Wenger, David, additional, Jarocha, Danuta Jadwiga, additional, Guerra, Amaliris, additional, Schlotawa, Lars, additional, Radhakrishnan, Karthikeyan, additional, Ahrens-Nicklas, Rebecca, additional, Kurre, Peter, additional, Hurwitz, Stephanie, additional, and Rivella, Stefano, additional

Published
2021
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30. Spin in Abstracts of Systematic Reviews and Meta-analyses of Melanoma Therapies: Cross-sectional Analysis (Preprint)

Author

Nowlin, Ross, primary, Wirtz, Alexis, additional, Wenger, David, additional, Ottwell, Ryan, additional, Cook, Courtney, additional, Arthur, Wade, additional, Sallee, Brigitte, additional, Levin, Jarad, additional, Hartwell, Micah, additional, Wright, Drew, additional, Sealey, Meghan, additional, Zhu, Lan, additional, and Vassar, Matt, additional

Published
2021
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31. Spin in Abstracts of Systematic Reviews and Meta-Analyses of Melanoma Therapies: A Cross-Sectional Analysis (Preprint)

Author

Nowlin, Ross, primary, Wirtz, Alexis, additional, Wenger, David, additional, Ottwell, Ryan, additional, Cook, Courtney, additional, Arthur, Wade, additional, Sallee, Brigitte, additional, Levin, Jarad, additional, Hartwell, Micah, additional, Wright, Drew, additional, Sealey, Meghan, additional, Zhu, Lan, additional, and Vassar, Matt, additional

Published
2021
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32. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Author

Thompson-Stone, Robert, primary, Ream, Margie A., additional, Gelb, Michael, additional, Matern, Dietrich, additional, Orsini, Joseph J., additional, Levy, Paul A., additional, Rubin, Jennifer P., additional, Wenger, David A., additional, Burton, Barbara K., additional, Escolar, Maria L., additional, and Kurtzberg, Joanne, additional

Published
2021
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41. Evaluation of Industry Relationships Among Authors of Systematic Reviews and Meta-analyses Regarding Ménières Disease.

Author

Wenger, David, Nowlin, Ross, Johnson, Austin L., Anderson, Michael, Weaver, Michael, Hartwell, Micah, and Vassar, Matt

Subjects
*META-analysis, *AUTHORS, *MEDICAL information storage & retrieval systems, *SYSTEMATIC reviews, *CONFLICT of interests, *ENDOWMENT of research, *INTERPROFESSIONAL relations, *MENIERE'S disease, *DESCRIPTIVE statistics, *MEDLINE, *RESEARCH bias
Abstract

Objectives: To quantify the presence of conflicts of interest (COI) in SRs and MAs of Ménières disease treatment and identify any related secondary characteristics of these articles. Methods: A search was conducted on May 28, 2020 to search MEDLINE and Embase databases for SRs or MAs pertaining to Ménières disease published between September 1, 2016 and June 2, 2020. A risk of bias assessment was performed using the Cochrane Collaboration risk of bias assessment criteria. Results: A total of 13 systematic reviews conducted by 49 authors met the inclusion criteria. Of the 49 authors, 7 (14.3%) were found to have some form of COI. Of these 7 authors, 1 (14.3%) completely disclosed all COI within the SR, 1 (14.3%) disclosed one or more COI but were found to have an additional undisclosed COI, and 5 (71.4%) were found to have only undisclosed COI. One of 2 industry funded SRs (50%) had a high risk of bias, and 1 (50%) of the non-industry sponsored SRs were found to have a high risk of bias. Conclusions: Overall authors of SRs pertaining to Ménières disease appear to be properly disclosing COI at higher rates than other fields of medicine; however, further room for improvement has been noted. [ABSTRACT FROM AUTHOR]

Published
2022
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45. sj-pdf-2-aor-10.1177_00034894211051822 – Supplemental material for Evaluation of Industry Relationships Among Authors of Systematic Reviews and Meta-analyses Regarding Ménières Disease

Author

Wenger, David, Nowlin, Ross, Johnson, Austin L., Anderson, Michael, Weaver, Michael, Hartwell, Micah, and Vassar, Matt

Subjects
110315 Otorhinolaryngology, FOS: Clinical medicine
Abstract

Supplemental material, sj-pdf-2-aor-10.1177_00034894211051822 for Evaluation of Industry Relationships Among Authors of Systematic Reviews and Meta-analyses Regarding Ménières Disease by David Wenger, Ross Nowlin, Austin L. Johnson, Michael Anderson, Michael Weaver, Micah Hartwell and Matt Vassar in Annals of Otology, Rhinology & Laryngology

Published
2021
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46. sj-pdf-1-aor-10.1177_00034894211051822 – Supplemental material for Evaluation of Industry Relationships Among Authors of Systematic Reviews and Meta-analyses Regarding Ménières Disease

Author

Wenger, David, Nowlin, Ross, Johnson, Austin L., Anderson, Michael, Weaver, Michael, Hartwell, Micah, and Vassar, Matt

Subjects
110315 Otorhinolaryngology, FOS: Clinical medicine
Abstract

Supplemental material, sj-pdf-1-aor-10.1177_00034894211051822 for Evaluation of Industry Relationships Among Authors of Systematic Reviews and Meta-analyses Regarding Ménières Disease by David Wenger, Ross Nowlin, Austin L. Johnson, Michael Anderson, Michael Weaver, Micah Hartwell and Matt Vassar in Annals of Otology, Rhinology & Laryngology

Published
2021
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47. Advances in the Diagnosis and Treatment of Krabbe Disease

Author

Wenger, David A, Luzi, Paola, Rafi, Mohammad, Wenger, David A, Luzi, Paola, and Rafi, Mohammad

Abstract

Krabbe disease is an autosomal recessive leukodystrophy caused by pathogenic variants in the galactocerebrosidase (GALC) gene. GALC activity is needed for the lysosomal hydrolysis of galactosylceramide, an important component of myelin. While most patients are infants, older patients are also diagnosed. Starting in 1970, a diagnosis could be made by measuring GALC activity in leukocytes and cultured cells. After the purification of GALC in 1993, the cDNA and genes were cloned. Over 260 disease-causing variants as well as activity lowering benign variants have been identified. While some pathogenic variants can be considered “severe,” others can be considered “mild.” The combination of alleles determines the type of Krabbe disease a person will have. To identify patients earlier, newborn screening (NBS) has been implemented in several states. Low GALC activity in this screening test may indicate a diagnosis of Krabbe disease. Second tier testing as well as neuro-diagnostic studies may be required to identify those individuals needing immediate treatment. Treatment of pre-symptomatic or mildly symptomatic patients at this time is limited to hematopoietic stem cell transplantation. Treatment studies using the mouse and dog models have shown that combining bone marrow transplantation with intra-venous gene therapy provides the best outcomes in terms of survival, behavior, and preservation of normal myelination in the central and peripheral nervous systems. With earlier diagnosis of patients through newborn screening and advances in treatment, it is hoped that more patients will have a much better quality of life.

Published
2021

48. Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?

Author

Rafi, Mohammad, Luzi, Paola, Wenger, David A, Rafi, Mohammad, Luzi, Paola, and Wenger, David A

Abstract

Introduction: Krabbe disease (KD) is an autosomal recessive disorder caused by mutations in the galactocerebrosidase (GALC) gene resulting in neuro-inflammation and defective myelination in the central and peripheral nervous systems. Most infantile patients present with clinical features before six months of age and die before two years of age. The only treatment available for pre-symptomatic or mildly affected individuals is hematopoietic stem cell transplantation (HSCT). In the animal models, combining bone marrow transplantation (BMT) with gene therapy has shown the best results in disease outcome. In this study, we examine the outcome of gene therapy alone. Methods: Twitcher (twi) mice used in the study, have a W339X mutation in the GALC gene. Genotype identification of the mice was performed shortly after birth or post-natal day 1 (PND1), using polymerase chain reaction on the toe clips followed by restriction enzyme digestion and electrophoresis. Eight or nine-day-old affected mice were used for gene therapy treatment alone or combined with BMT. While iv injection of 4 × 1013 gc/kg of body weight of viral vector was used originally, different viral titers were also used without BMT to evaluate their outcomes. Results: When the standard viral dose was increased four- and ten-fold (4X and 10X) without BMT, the lifespans were increased significantly. Without BMT the affected mice were fertile, had the same weight and appearance as wild type mice and had normal strength and gait. The brains showed no staining for CD68, a marker for activated microglia/macrophages, and less astrogliosis than untreated twi mice. Conclusion: Our results demonstrate that, it may be possible to treat human KD patients with high dose AAVrh10 without blood stem cell transplantation which would eliminate the side effects of HSCT.

Published
2021

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