Výsledky vyhledávání - Courel, Steve

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family Autor Dankwa, Lois, Richardson, Jessica, Motley, William W., Scavina, Mena, Courel, Steve, Bardakjian, Tanya, Züchner, Stephan, Scherer, Steven S.

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POLG mutations presenting as CMT Autor Phillips, Jade, Courel, Steve, Rebelo, Adriana P., Bis-Brewer, Dana M., Bardakjian, Tanya, Dankwa, Lois, Hamedani, Ali G., Züchner, Stephan, Scherer, Steven S.

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Reinfection with SARS‐CoV‐2 in solid‐organ transplant recipients: Incidence density and convalescent immunity prior to reinfection Autor Morris, Stephen, Anjan, Shweta, Pallikkuth, Suresh, Frattaroli, Paola, Courel, Steve, Fernandez, Anmary, Natori, Akina, Abbo, Lilian, Pahwa, Savita, Guerra, Giselle, Natori, Yoichiro

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Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype Autor Montes-Chinea, Nataly I., Guan, Zhuo, Coutts, Marcella, Vidal, Cecilia, Courel, Steve, Rebelo, Adriana P., Abreu, Lisa, Zuchner, Stephan, Littleton, J. Troy, Saporta, Mario A.

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Assessing non-Mendelian Inheritance in Inherited Axonopathies Autor Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E., Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan

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1347. Comparison Between SARS-Cov-2, non-SARS-Cov-2 Coronavirus, Influenza and RSV Infections Among Solid Organ Transplant Recipients Autor Mendoza, Maria A, Gabriel, Motoa, Raja, Mohammed, Anjan, Shweta, Fernandez, Anmary A, Courel, Steve, Chandorkar, Aditya, O’Brien, Christopher, Phancao, Anita, Sinha, Neeraj, Vianna, Rodrigo, Gaetano, Ciancio, Loebe, Mathias, Simkins, Jacques, Camargo, Jose F, Morris, Michele I, Abbo, Lilian M, Guerra, Giselle, Natori, Yoichiro

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement Autor Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement Autor Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 Autor Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Autor Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt, Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Autor Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

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BIALLELIC MUTATIONS IN SORD CAUSE A COMMON AND POTENTIALLY TREATABLE HEREDITARY NEUROPATHY WITH IMPLICATIONS FOR DIABETES Autor Cortese, Andrea, Zhu, Yi, Rebelo, Adriana, Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J, Bai, Yunhong, Bis-Brewer, Dana M, Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C, Feely, Shawna ME, Fragkouli, Alkyoni A, Haridy, Nourelhoda A, Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M, Sowden, Janet, Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S, Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A, Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Saveri, Paola, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N, Reilly, Mary M, Shy, Michael E, Zhai, Grace, Zuchner, Stephan

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