Child Neurology Applicants Place Increasing Emphasis on Quality of Life Factors

Autor: Dixon, Sarah M., Binkley, Michael M., Gospe, Sidney M., Jr., Guerriero, Réjean M.

Publikováno v: In Pediatric Neurology January 2021 114:42-46

Chapter 43 - Disorders of manganese transport

Autor: Tuschl, Karin, Marin-Valencia, Isaac, Gospe, Sidney M., Jr.

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:787-800

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Autor: Wallace, Stephanie E., Conta, Jessie H., Winder, Thomas L., Willer, Tobias, Eskuri, Jamie M., Haas, Richard, Patterson, Kathleen, Campbell, Kevin P., Moore, Steven A., Gospe, Sidney M., Jr.

Publikováno v: In Neuromuscular Disorders April 2014 24(4):312-320

Colaboradores

Autor: Abman, Steven H., Ali, Noorjahan, Allegaert, Karel, Anderson, Jamie E., Ansah, Deidra A., Arya, Bhawna, Askenazi, David, Aucott, Susan W., Back, Stephen A., Baer, Gerri R., Baldwin, H. Scott, Ballas, Jerasimos, Batra, Maneesh, Bayart, Cheryl, Bellus, Gary A., Benjamin, John T., Berry, Gerard T., Billimoria, Zeenia C., Binenbaum, Gil, Blessing, Matthew S., Boos, Markus D., Bosse, Brad, Bouchard, Maryse L., Brandling-Bennett, Heather A., Brown, Colleen, Brown, Erin G., Campbell, Katherine H., Carlberg, Katie, Carter, Brian S., Chabra, Shilpi, Chang, Irene J., Cheng, Edith Y., Chiang, Kai-wen, Christensen, Robert D., Chun, Terrence, Clyman, Ronald I., Cortezzo, DonnaMaria E., Cotten, C.M., Courtney, Sherry E., Davis, Jonathan M., Campomanes, Alejandra G. de Alba, Dean, Benjamin, Dees, Ellen, DeMauro, Sara B., Denne, Scott C., Deschmann, Emöke, Blasi, Carolina Cecilia Di, DiVall, Sara A., Doherty, Dan, Durand, David J., Dyess, Nicolle Fernández, Eichenwald, Eric C., Eitel, Kelsey B., Engen, Rachel M., Evans, Kelly N., Farmer, Diana L., Fay, Emily, Fechner, Patricia Y., Fleishman, Rachel, Fleiss, Bobbi, Flynn, Joseph, Jr., Flynn-O’Brien, Katherine T., Fulton, G. Kyle, Gallagher, Renata C., Gauda, Estelle B., Golden, W. Christopher, Gontasz, Michelle M., Estévez, Natasha González, Gospe, Sidney M., Jr., Gressens, Pierre, Gupta, Deepti, Hingorani, Sangeeta, Hinson, Ashley P., Hintz, Susan R., Hodson, W. Alan, Hoppe, Kara K., Huang, Alyssa, Huang, Benjamin, Huen, Kathy, Huff, Katie A., Ionita, Cristian, Jackson, J. Craig, Jackson, Jordan E., Jaksic, Tom, Javid, Patrick J., Johnson, Julia, Josephson, Cassandra D., Jungheim, Emily S., Juul, Sandra E., Kabbany, Mohammad Nasser, Karpen, Heidi, Keefe, Gregory, Keene, Jennifer C., Keiser, Amaris M., Keller, Roberta L., Kelly, Thomas F., Khorsand, Kate, Kim, Grace, Kinsella, John P., Komorowski, Allison S., Koves, Ildiko H., Lagatta, Joanne M., Lakshminrusimha, Satyan, Lam, Christina, Lantos, John D., Law, Janessa B., Lee, Su Yeon, Levy, Ofer, Lewis, David B., Lin, Philana Ling, Lorch, Scott A., Lucas, Tiffany L., Maheshwari, Akhil, Maltepe, Emin, Mandell, Erica, Manimtim, Winston M., Martin, Richard J., Mayock, Dennis E., McAleer, Irene, McQuillen, Patrick, Melvin, Ann J., Merguerian, Paul A., Merjaneh, Lina, Merritt, J. Lawrence, II, Mezger, Valerie, Michaels, Marian G., Mietzsch, Ulrike, Miller, Steven P., Moore, Thomas R., Murray, Karen F., Nandi-Munshi, Debika, Natarajan, Niranjana, Ness, Kathryn D., Neu, Josef, Noori, Shahab, ’Shea, Thomas Michael O, Jr., Oatts, Julius T., Paneth, Nigel, Parker, Thomas A., Patel, Ravi Mangal, Patel, Simran, Penn, Anna A., Pettker, Christian M., Peyvandi, Shabnam, Pihoker, Catherine, Plosa, Erin, Poindexter, Brenda, Posencheg, Michael A., Puia-Dumitrescu, Mihai, Cardona, Vilmaris Quiñones, Rice-Townsend, Samuel E., Riddle, Art, Robbins, Elizabeth, Rollins, Mark D., Rosen, Mark A., Rowe, Courtney K., Sahai, Inderneel, Saitta, Sulagna C., Salehi, Parisa, Sánchez, Pablo J., Sawyer, Taylor, Saxonhouse, Matthew A., Schroeder, Katherine M., Selewski, David T., Senaratne, T. Niroshi, Seri, Istvan, Sharpe, Emily E., Sheppard, Sarah E., Shnorhavorian, Margarett, Sidbury, Robert, Simmons, LaVone, Simmons, Rebecca A., Singh, Rachana, Sola-Visner, Martha C., Srinivasan, Lakshmi, Steflik, Heidi J., Steinhorn, Robin H., Stokes, Caleb, Stolp, Helen, Sucre, Jennifer, Sun, Angela, Taha, Dalal K., Tenney, Jessica, Thomas, Janet A., Tiller, George E., Torres, Benjamin A., Truog, William E., Upadhyay, Kirtikumar, Valentine, Gregory C., van den Anker, John N., Vohr, Betty, Wallen, Linda D., Wang, Peter (Zhan Tao), Warady, Bradley A., Ward, Robert M., Watchko, Jon F., Wehbi, Elias, Weitkamp, Joern-Hendrik, Werny, David, White, Klane K., Wild, K. Taylor, Wiley, Susan, Willig, Laurel, Woodward, George A., Wright, Clyde J., Yonekawa, Karyn, Yu, Elizabeth, Zackai, Elaine H.

Publikováno v: In Avery. Enfermedades del recién nacido Edition: Eleventh Edition. 2025:vii-xix

List of Contributors

Autor: Abbink, Truus E.M., Abdallah, Sarah B., Agin-Liebes, Julian, Bachoo, Robert M., Baek, Peter, Baranzini, Sergio E., Bear, Lauren, Biglan, Kevin, Bloch, Michael H., Bonnet, Wilmot, Brady, Melanie, Brandsema, John F., Broccolini, Aldobrando, Brown, Robert H., Cohen, Bernard, Cole, Jordan J., Comi, Anne M., Crabbe, John C., Darras, Basil T., Delia, Domenico, Doran, Sarah, Dowling, Michael M., Dunn, Walter, Elsheikh, Bakri, Engel, Andrew G., Fahn, Stanley, Fasching, Liana, Fears, Scott C., Felling, Ryan J., Fernandez, Thomas V., Ferner, Rosalie E., Fink, John K., Gellera, Cinzia, Gillespie, Charles F., Goldman, Alica M., Gospe, Sidney M., Jr., Gu, Yian, Gutmann, David H., Hadziamehtovic, Una, Hauser, Stephen L., Hilbert, James E., Hosoi, Yasushi, Ibrahim, Ahmed N., Iliopoulos, Othon, Islam, Monica P., Jenkins, Aaron K., Jia, Xiaoming, Jungbluth, Heinz, Kane, John P., Katz, Natalie K., Kayani, Saima N., Kirkham, Fenella J., Kirkorian, A. Yasmine, Kissel, John T., Klein, Christine, Kleopa, Kleopas A., Kolb, Stephen J., Konstantakou, Evmorfia, Kruer, Michael C., Lambracht-Washington, Doris, Larson, Austin, Lee, Joseph H., Lewis, David A., Liang, Wen-Chen, Lin, Ziqiang, Lohmann, Katja, Lombroso, Paul, Lucchini, Matteo, Maher, Elizabeth A., Malloy, Mary J., Manoli, Irini, Marin-Valencia, Isaac, Marshall, Fred, Mayeux, Richard, McGarry, Andrew, Menkes, John H., Meola, Giovanni, Miller, Bruce L., Mirabella, Massimiliano, Miyajima, Hiroaki, Mizutani, Shuki, Mole, Sara E., Moxley, Richard T., III, Nemeroff, Charles B., Nemeth, Christina, Nishino, Ichizo, Noebels, Jeffrey L., Nordlie, Sandra M.H., Oksenberg, Jorge R., Oldfors, Anders, Olfson, Emily, Padilla-Lopez, Sergio, Pandolfo, Massimo, Pascual, Juan M., Patel, Shailendra B., Pena, Izabella A., Ptáček, Louis, Ralph, Jeffrey, Reilly, Mary M., Renthal, William, Reus, Victor I., Roach, E. Steve, Rosenberg, Roger N., Rosenblatt, David S., Rossor, Alexander M., Salen, Gerald, Savarese, Antonia M., Sawyer, Russell P., Scherer, Steven S., Schneider, Susanne A., Schulz, Angela, Selcen, Duygu, Shakkottai, Vikram G., Solomon, Chase, Sreedharan, Jemeen, Statland, Jeffrey M., Taroni, Franco, Tuschl, Karin, Udd, Bjarne, Umaña, Luis Alfredo, Vaccarino, Flora M., van der Knaap, Marjo S., van Karnebeek, Clara, Venditti, Charles P., Voermans, Nicol C., Volk, David W., Waldrop, Megan A., Watkins, David, Wilson, Golder N., Wilson, Kathleen S., Xia, Weiming, Yu, Gang

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:xvii-xxi