Resultados de búsqueda - Abdullah Al‐Ajmi

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  1. 1
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD por Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Publicado 2025
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  2. 2
    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes por Andrea Cortese, Yi Zhu, Adriana Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis‐Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna Feely, Alkyoni Athanasiou‐Fragkouli, Nourelhoda A. Haridy, Aixa Rodríguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett A. McCray, Brianna Blume, Carly E. Siskind, Charlotte J. Sumner, Daniela Calabrese, David Walk, Dragan Vujović, Eun Hye Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsádi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Perez Quiros Laura, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Sadjadi, Riccardo Zuccarino, Richard S. Finkel, Richard A. Lewis, Rosemary Shy, Sabrina W. Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens‐Spraggins, Tara Jones, Thomas E. Lloyd, Tiffany Grider, Tim Estilow, Vera Fridman, Rosario Isasi, Alaa Khan, Matilde Laurá, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. Sowden, Stefano Tozza, Jana Vandrovcová, Julia E. Dallman, Elena Grignani, Enrico Marchioni, Steven S. Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al‐Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer‐Grumbach, Mohamed A. Abdelhamed, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, Michael E. Shy, R. Grace Zhai, Stephan Züchner

    Publicado 2020
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