检索结果 - Courel, Steve

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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