المؤلفون: Van Lent, Jonas, Prior, Robert, Pérez Siles, Gonzalo, Cutrupi, Anthony, Kennerson, Marina, Vangansewinkel, Tim, Wolfs, Esther, Mukherjee-Clavin, Bipasha, Nevin, Zachary, Judge, Luke, Conklin, Bruce, Tyynismaa, Henna, Clark, Alex, Bennett, David, Van Den Bosch, Ludo, Saporta, Mario, Timmerman, Vincent

المصدر: Experimental and Molecular Medicine. 56(6)

مصطلحات موضوعية: Humans, Induced Pluripotent Stem Cells, Animals, Peripheral Nervous System Diseases, Organoids, Models, Biological

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5br2k5d8
https://escholarship.org/content/qt5br2k5d8/qt5br2k5d8.pdf

المؤلفون: Donkervoort, Sandra, Mohassel, Payam, OLeary, Melanie, Bonner, Devon, Hartley, Taila, Acquaye, Nicole, Brull, Astrid, Saporta, Mario, Dyment, David, Sampson, Jacinda, Pajusalu, Sander, Austin-Tse, Christina, Hurth, Kyle, Cohen, Julie, McWalter, Kirsty, Warman-Chardon, Jodi, Crunk, Amy, Foley, A, Mammen, Andrew, Wheeler, Matthew, ODonnell-Luria, Anne, Bönnemann, Carsten, Mozaffar, Tahseen

المصدر: Annals of Clinical and Translational Neurology. 11(3)

مصطلحات موضوعية: Adult, Humans, Muscular Diseases, Muscle, Skeletal, Actinin, Phenotype, Cardiomyopathies

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/84h8525x

المؤلفون: Donkervoort, Sandra, Mohassel, Payam, O'Leary, Melanie, Bonner, Devon E., Hartley, Taila, Acquaye, Nicole, Brull, Astrid, Mozaffar, Tahseen, Saporta, Mario A., Dyment, David A., Sampson, Jacinda B., Pajusalu, Sander, Austin‐Tse, Christina, Hurth, Kyle, Cohen, Julie S., McWalter, Kirsty, Warman‐Chardon, Jodi, Crunk, Amy, Foley, A. Reghan, Mammen, Andrew L., Wheeler, Matthew T., O'Donnell‐Luria, Anne, Bönnemann, Carsten G.

المساهمون: National Institute of Neurological Disorders and Stroke, Common Fund, National Human Genome Research Institute, Silicon Valley Community Foundation

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 3, page 629-640 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51983
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51983

المؤلفون: Jacobs, Elizabeth, Danzi, Matt, Rebelo, Adriana, Zuchner, Stephan, Saporta, Mario

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000206237

المؤلفون: Feliciano, Carissa, Wu, Kenneth, Watry, Hannah, Marley, Chiara, Ramadoss, Gokul, Ghanim, Hana, Liu, Angela, Zholudeva, Lyandysha, McDevitt, Todd, Saporta, Mario, Conklin, Bruce, Judge, Luke

مصطلحات موضوعية: CRISPR-Cas9, Charcot-Marie-Tooth, dominant, gene editing, induced pluripotent stem cells, motor neurons, neuropathy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2cr6s81s
https://escholarship.org/content/qt2cr6s81s/qt2cr6s81s.pdf

المؤلفون: Al-Tahan, Sejad, Weiss, Lan, Yu, Howard, Tang, Sha, Saporta, Mario, Vihola, Anna, Mozaffar, Tahseen, Udd, Bjarne, Kimonis, Virginia

المصدر: Neurology Genetics. 5(4)

مصطلحات موضوعية: Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Biotechnology, Human Genome, Rare Diseases, Genetics, Aetiology, 2.1 Biological and endogenous factors, Neurosciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9rj646hx

المؤلفون: Beijer, Danique, Dohrn, Maike F, Rebelo, Adriana, Danzi, Matt C, Grosz, Bianca Rose, Ellis, Melina, Kumar, Kishore R, Vucic, Steve, Vais, Horia, Weissenrieder, Jillian S, Lunko, Olesia, Paudel, Usha, Simpson, Leah C, Camarena, Vladimir, Raposo, Jacquelyn, Saporta, Mario, Arcia, Yeisha, Xu, Isaac, Feely, Shawna, Record, Christopher J

المصدر: Brain: A Journal of Neurology; Jan2025, Vol. 148 Issue 1, p227-237, 11p

مصطلحات موضوعية: GENETIC variation, PERIPHERAL nervous system, NEUROMUSCULAR diseases, CHARCOT-Marie-Tooth disease, WHOLE genome sequencing

المؤلفون: Medina, Jessica, Rebelo, Adriana, Danzi, Matt C, Jacobs, Elizabeth H, Xu, Isaac R L, Ahrens, Kathleen P, Chen, Sitong, Raposo, Jacquelyn, Yanick, Christopher, Zuchner, Stephan, Saporta, Mario A

المصدر: Brain: A Journal of Neurology; Dec2024, Vol. 147 Issue 12, p4227-4239, 13p

مصطلحات موضوعية: PLURIPOTENT stem cells, PERIPHERAL nervous system, NEURODEGENERATION, MOTOR neurons, GENETIC variation

المؤلفون: Cortese, Andrea, Currò, Riccardo, Ronco, Riccardo, Blake, Julian, Rossor, Alex M, Bugiardini, Enrico, Laurà, Matilde, Warner, Tom, Yousry, Tarek, Poh, Roy, Polke, James, Rebelo, Adriana, Dohrn, Maike F, Saporta, Mario, Houlden, Henry, Zuchner, Stephan, Reilly, Mary M

المصدر: European Journal of Neurology (2023) (In press).

مصطلحات موضوعية: Cataracts neuropathy, Charcot-Marie-Tooth, CRYAB, myopathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10178232/1/Mutations%20in%20alpha%20B%20crystallin.pdf; https://discovery.ucl.ac.uk/id/eprint/10178232/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10178232/1/Mutations%20in%20alpha%20B%20crystallin.pdf
https://discovery.ucl.ac.uk/id/eprint/10178232/

المؤلفون: Record, Christopher J, Skorupinska, Mariola, Laura, Matilde, Rossor, Alexander M, Pareyson, Davide, Pisciotta, Chiara, Feely, Shawna ME, Lloyd, Thomas E, Horvath, Rita, Sadjadi, Reza, Herrmann, David N, Li, Jun, Walk, David, Yum, Sabrina W, Lewis, Richard A, Day, John, Burns, Joshua, Finkel, Richard S, Saporta, Mario A, Ramchandren, Sindhu, Weiss, Michael D, Acsadi, Gyula, Fridman, Vera, Muntoni, Francesco, Poh, Roy, Polke, James M, Zuchner, Stephan, Shy, Michael E, Scherer, Steven S, Reilly, Mary M, Inherited Neuropathies Consortium - Rare Disease Clinical Resear

المصدر: Brain , Article awad187. (2023) (In press).

مصطلحات موضوعية: ACGS, ACMG, CMT1X, Cx32, connexin 32

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173298/1/awad187.pdf; https://discovery.ucl.ac.uk/id/eprint/10173298/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173298/1/awad187.pdf
https://discovery.ucl.ac.uk/id/eprint/10173298/

المؤلفون: Pellerin, David, Danzi, Matt C, Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K, Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A, Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J, Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H, Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M, Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G, Lamont, Phillipa J, Saporta, Mario A, Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

المصدر: New England Journal of Medicine , 388 pp. 128-141. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf; https://discovery.ucl.ac.uk/id/eprint/10162059/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf
https://discovery.ucl.ac.uk/id/eprint/10162059/

المؤلفون: Carbunar, Olimpia, Saporta, Mario, Gultekin , Sakir

المصدر: RRNMF Neuromuscular Journal; Vol. 4 No. 2 (2023); 26-28 ; 2692-3092 ; 10.17161/rrnmf.v4i2

مصطلحات موضوعية: Distal myopathy, Desmin, Myofibrillary myopathy

وصف الملف: application/pdf

Relation: https://journals.ku.edu/rrnmf/article/view/18512/17789; https://journals.ku.edu/rrnmf/article/view/18512

الاتاحة: https://journals.ku.edu/rrnmf/article/view/18512
https://doi.org/10.17161/rrnmf.v4i2.18512

المؤلفون: Mohajeri, Arezoo, Vaseghi-Shanjani, Maryam, Rosenfeld, Jill A, Yang, Gui Xiang, Lu, Henry, Sharma, Mehul, Lin, Susan, Salman, Areesha, Waqas, Meriam, Sababi Azamian, Mahshid, Worley, Kim C, Del Bel, Kate L, Kozak, Frederick K, Rahmanian, Ronak, Biggs, Catherine M, Hildebrand, Kyla J, Lalani, Seema R, Nicholas, Sarah K, Scott, Daryl A, Mostafavi, Sara, van Karnebeek, Clara, Henkelman, Erika, Halparin, Jessica, Yang, Connie L, Armstrong, Linlea, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey, Stuart E, Lehman, Anna, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvarez, Raquel L, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, TaChen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Corona, Rosario, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Falk, Marni, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Gahl, William A, Glass, Ian, Gochuico, Bernadette, Goddard, Page C, Godfrey, Rena A, Golden-Grant, Katie, Grajewski, Alana, Don Hadley, Sihoun Hahn, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P, Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N, Kohane, Isaac S, Kohler, Jennefer N, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M, Kravets, Elijah, Lam, Byron, Lam, Christina, Lanpher, Brendan C, Lanza, Ian R, LeBlanc, Kimberly, Lee, Brendan H, Levitt, Roy, Lewis, Richard A, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Mahoney, Rachel, Malicdan, MayChristine V, Mamounas, Laura A, Manolio, Teri A, Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A, Martin, Martin G, Martínez-Agosto, Julian A, Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T, McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F, Newman, John H, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pace, Laura, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, PhillipsIII, John A, Posey, Jennifer E, Potocki, Lorraine, PuseySwerdzewski, Barbara N, Quinlan, Aaron, Rao, Deepak A, Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Ron Scott, C, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K, Sinsheimer, Janet S, Sisco, Kathy, Smith, Edward C, Smith, Kevin S, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C, Stoler, Joan M, Sullivan, Kathleen, Sullivan, Jennifer A, Sun, Angela, Sutton, Shirley, Sweetser, David A, Sybert, Virginia, Tabor, Holly K, Tan, Queenie K-G, Tan, Amelia LM, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Ungar, Rachel A, Urv, Tiina K, Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P, Wahl, Colleen E, Walker, Melissa, Wallace, Stephanie, Walley, Nicole M, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T, Whitlock, Jordan, Wolfe, Lynne A, Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan

مصطلحات موضوعية: Developmental defects

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/60/11/1092; http://dx.doi.org/10.1136/jmg-2022-109127

الاتاحة: http://jmg.bmj.com/cgi/content/short/60/11/1092
https://doi.org/10.1136/jmg-2022-109127

المؤلفون: Thomas, Florian P, Saporta, Mario A, Attarian, Shahram, Sevilla, Teresa, Sivera, Rafael, Fabrizi, Gian M, Genovese, Filippo, Gray, Amy J, Bull, Simon, Tanesse, Daniel, Rego, Manuel, Moore, Allison, Hollett, Courtney, Paoli, Xavier, Sénéchal, Thomas, Day, Laura, Ouyang, Chengyu, Llewellyn, Samuel, Larkin, Mark, Boutalbi, Youcef

المساهمون: Thomas, Florian P, Saporta, Mario A, Attarian, Shahram, Sevilla, Teresa, Sivera, Rafael, Fabrizi, Gian M, Genovese, Filippo, Gray, Amy J, Bull, Simon, Tanesse, Daniel, Rego, Manuel, Moore, Allison, Hollett, Courtney, Paoli, Xavier, Sénéchal, Thoma, Day, Laura, Ouyang, Chengyu, Llewellyn, Samuel, Larkin, Mark, Boutalbi, Youcef

مصطلحات موضوعية: international, patient-reported outcomes, burden of illness, Charcot-Marie-Tooth disease, observational

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36005469; volume:24; issue:1; firstpage:7; lastpage:17; numberofpages:11; journal:JOURNAL OF CLINICAL NEUROMUSCULAR DISEASE; https://hdl.handle.net/11562/1073227; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136471396; https://doi.org/10.1097/cnd.0000000000000426

الاتاحة: https://hdl.handle.net/11562/1073227
https://doi.org/10.1097/CND.0000000000000426

المؤلفون: Rebelo, Adriana P, Abad, Clemer, Dohrn, Maike F, Li, Jian J, Tieu, Ethan K, Medina, Jessica, Yanick, Christopher, Huang, Jingyu, Zotter, Brendan, Young, Juan I, Saporta, Mario, Scherer, Steven S, Walz, Katherina, Zuchner, Stephan

المصدر: Brain: A Journal of Neurology; Sep2024, Vol. 147 Issue 9, p3131-3143, 13p

مصطلحات موضوعية: PERIPHERAL nervous system, PERIPHERAL neuropathy, CHARCOT-Marie-Tooth disease, MYELIN sheath, SPRAGUE Dawley rats

المؤلفون: Danzi, Matt C., Powell, Eric, Rebelo, Adriana P., Dohrn, Maike F., Beijer, Danique, Fazal, Sarah, Xu, Isaac R. L., Medina, Jessica, Chen, Sitong, Arcia de Jesus, Yeisha, Schatzman, Jacquelyn, Hershberger, Ray E., Saporta, Mario, Baets, Jonathan, Falk, Marni, Herrmann, David N., Scherer, Steven S., Reilly, Mary M., Cortese, Andrea, Marques, Wilson, Cornejo-Olivas, Mario R., Sanmaneechai, Oranee, Kennerson, Marina L., Jordanova, Albena, Silva, Thiago Y. T., Pedroso, Jose Luiz, Schierbaum, Luca, Ebrahimi-Fakhari, Darius, Peric, Stojan, Lee, Yi-Chung, Synofzik, Matthis, Tekin, Mustafa, Ravenscroft, Gianina, Shy, Mike, Basak, Nazli, Schule, Rebecca, Zuchner, Stephan

المساهمون: Danzi, Matt C., Powell, Eric, Rebelo, Adriana P., Dohrn, Maike F., Beijer, Danique, Fazal, Sarah, Xu, Isaac R. L., Medina, Jessica, Chen, Sitong, Arcia de Jesus, Yeisha, Schatzman, Jacquelyn, Hershberger, Ray E., Saporta, Mario, Baets, Jonathan, Falk, Marni, Herrmann, David N., Scherer, Steven S., Reilly, Mary M., Cortese, Andrea, Marques, Wilson, Cornejo-Olivas, Mario R., Sanmaneechai, Oranee, Kennerson, Marina L., Jordanova, Albena, Silva, Thiago Y. T., Pedroso, Jose Luiz, Schierbaum, Luca, Ebrahimi-Fakhari, Dariu, Peric, Stojan, Lee, Yi-Chung, Synofzik, Matthi, Tekin, Mustafa, Ravenscroft, Gianina, Shy, Mike, Basak, Nazli, Schule, Rebecca, Zuchner, Stephan

مصطلحات موضوعية: Data aggregation, Data sharing, Genome sequencing, Monogenic disease, Neuromuscular diseases

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/39357594; volume:382; journal:EXPERIMENTAL NEUROLOGY; https://hdl.handle.net/11571/1510801; https://www.sciencedirect.com/science/article/pii/S0014488624003042?via=ihub

الاتاحة: https://hdl.handle.net/11571/1510801
https://doi.org/10.1016/j.expneurol.2024.114978
https://www.sciencedirect.com/science/article/pii/S0014488624003042?via=ihub

المؤلفون: Xu, Isaac R L, Danzi, Matt C, Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M, Cortese, Andrea, Shy, Michael E, Scherer, Steven S, Herrmann, David N, Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G, Patel, Pooja, Feely, Shawna, Rebelo, Adriana P, Dohrn, Maike F, Züchner, Stephan

المساهمون: Xu, Isaac R L, Danzi, Matt C, Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M, Cortese, Andrea, Shy, Michael E, Scherer, Steven S, Herrmann, David N, Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G, Patel, Pooja, Feely, Shawna, Rebelo, Adriana P, Dohrn, Maike F, Züchner, Stephan

مصطلحات موضوعية: CMT1A, CMTES, Charcot–Marie–Tooth disease, PMP22, disease severity, genetic modifier, natural history, phenotype outlier, whole genome sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/38581130; info:eu-repo/semantics/altIdentifier/wos/WOS:001197287100001; journal:JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; https://hdl.handle.net/11571/1497919

الاتاحة: https://hdl.handle.net/11571/1497919
https://doi.org/10.1111/jns.12621
https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12621?src=getftr

المؤلفون: Plastini, Melanie J., Desu, Haritha L., Ascona, Maureen C., Lang, Anna L., Saporta, Mario A., Brambilla, Roberta

المصدر: Plastini , M J , Desu , H L , Ascona , M C , Lang , A L , Saporta , M A & Brambilla , R 2022 , ' Transcriptional abnormalities in induced pluripotent stem cell-derived oligodendrocytes of individuals with primary progressive multiple sclerosis ' , Frontiers in Cellular Neuroscience , vol. 16 , 972144 . https://doi.org/10.3389/fncel.2022.972144

مصطلحات موضوعية: human induced pluripotent stem cells, inflammasome, NLRP2, oligodendrocytes, primary progressive multiple sclerosis, RNA-sequencing

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/e6f55d40-0a66-42f6-b26f-f99ec3c6c7d0
https://doi.org/10.3389/fncel.2022.972144
https://findresearcher.sdu.dk/ws/files/211622482/fncel_16_972144.pdf

المؤلفون: Nagar, Shashwat Deepali, Pemu, Priscilla, Qian, Jun, Boerwinkle, Eric, Cicek, Mine, Clark, Cheryl R., Cohn, Elizabeth, Gebo, Kelly, Loperena, Roxana, Mayo, Kelsey, Mockrin, Stephen, Ohno-Machado, Lucila, Ramirez, Andrea H., Schully, Sheri, Able, Ashley, Green, Ashley, Zuchner, Stephan, Pemu, Priscilla E., Quarshie, Alexander, Carroll, Kelley, Sanders, Lawrence L., Mosby, Howard, Olorundare, Elizabeth I., McCaslin, Atuarra, Anderson, Chadrick, Pearson, Andrea, Igwe, Kelechi C., Silva, Karunamuni, Daugett, Gwen, McCray, Jason, Prude, Michael, Franklin, Cheryl, Carrasquillo, Olveen, Isasi, Rosario, McCauley, Jacob L., Melo, Jose G., Riccio, Ana K., Whitehead, Patrice, Guzman, Patricia, Gladfelter, Christina, Velez, Rebecca, Saporta, Mario, Apagüeño, Brandon, Abreu, Lisa, Shenkman, Betsy, Hogan, Bill, Handberg, Eileen, Hensley, Jamie, White, Sonya

المساهمون: National Institutes of Health

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-23353-z
https://www.nature.com/articles/s41598-022-23353-z.pdf
https://www.nature.com/articles/s41598-022-23353-z

المؤلفون: Cutrupi, Anthony N, Narayanan, Ramesh K, Perez-Siles, Gonzalo, Grosz, Bianca R, Lai, Kaitao, Boyling, Alexandra, Ellis, Melina, Lin, Ruby C Y, Neumann, Brent, Mao, Di, Uesugi, Motonari, Nicholson, Garth A, Vucic, Steve, Saporta, Mario A, Kennerson, Marina L

المساهمون: National Health and Medical Research Council, Sydney Medical School, The Charcot–Marie–Tooth Association and NIH/NCATS KL2 Career Development Award

المصدر: Brain ; volume 146, issue 3, page 880-897 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awac424
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac424/48497434/awac424.pdf
https://academic.oup.com/brain/article-pdf/146/3/880/49356572/awac424.pdf