Resultats de la cerca - Edvardson, Shimon

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy per Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy per Sheffer, Ruth, Gur, Michal, Brooks, Rebecca, Salah, Somaya, Daana, Muhannad, Fraenkel, Nitay, Eisenstein, Eli, Rabie, Malcolm, Nevo, Yoram, Jalas, Chaim, Elpeleg, Orly, Edvardson, Shimon, Harel, Tamar

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Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2 per Spiegel, Ronen, Pines, Ophry, Ta-Shma, Asaf, Burak, Efrat, Shaag, Avraham, Halvardson, Jonatan, Edvardson, Shimon, Mahajna, Muhammad, Zenvirt, Shamir, Saada, Ann, Shalev, Stavit, Feuk, Lars, Elpeleg, Orly

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Functional Consequences and Structural Interpretation of Mutations of Human Choline Acetyltransferase per Shen, Xin-Ming, Crawford, Thomas O., Brengman, Joan, Acsadi, Gyula, Iannaconne, Susan, Karaca, Emin, Khoury, Chaouky, Mah, Jean K., Edvardson, Shimon, Bajzer, Zeljko, Rodgers, David, Engel, Andrew G.

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Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove per Benedek, Gil, Abed El Latif, Mahmoud, Miller, Keren, Rivkin, Mila, Ramadhan Lasu, Ally Ahmed, Riek, Lul P., Lako, Richard, Edvardson, Shimon, Alon, Sagit-Arbel, Galun, Eithan, Levite, Mia

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Macrophage migration inhibitory factor in Nodding syndrome per Benedek, Gil, Abed El Latif, Mahmoud, Miller, Keren, Rivkin, Mila, Ahmed Ramadhan Lasu, Ally, P. Riek, Lul, Lako, Richard, Edvardson, Shimon, Arbel-Alon, Sagit, Galun, Eithan, Levite, Mia

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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway per Edvardson, Shimon, Tian, Guoling, Cullen, Hayley, Vanyai, Hannah, Ngo, Linh, Bhat, Saiuj, Aran, Adi, Daana, Muhannad, Da’amseh, Naderah, Abu-Libdeh, Bassam, Cowan, Nicholas J., Heng, Julian Ik-Tsen, Elpeleg, Orly

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A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System per Confino, Shir, Dor, Talya, Tovin, Adi, Wexler, Yair, Ben-Moshe Livne, Zohar, Kolker, Michaela, Pisanty, Odelia, Park, Sohyun Kathy, Geyer, Nathalie, Reiter, Joel, Edvardson, Shimon, Mor-Shaked, Hagar, Elpeleg, Orly, Vallone, Daniela, Appelbaum, Lior, Foulkes, Nicholas S., Gothilf, Yoav

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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia per Boczonadi, Veronika, Müller, Juliane S., Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J., Chinnery, Patrick F., Edvardson, Shimon, Horvath, Rita

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia per Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder per Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reinders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder per Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, the DDD study, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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