खोज परिणाम - Buglo, Elena

  • प्रदर्शित 1 - 14 परिणाम 14
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  1. 1
    Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish

    Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish द्वारा Kozol, Robert A., Abrams, Alexander J., James, David M., Buglo, Elena, Yan, Qing, Dallman, Julia E.

    प्रकाशित 2016
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  2. 2
    Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

    Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease द्वारा Buglo, Elena, Sarmiento, Evan, Martuscelli, Nicole Belliard, Sant, David W., Danzi, Matt C., Abrams, Alexander J., Dallman, Julia E., Züchner, Stephan

    प्रकाशित 2020
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  3. 3
    Insights into the genotype-phenotype correlation and molecular function of SLC25A46

    Insights into the genotype-phenotype correlation and molecular function of SLC25A46 द्वारा Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie BL., Buglo, Elena, Campeanu, Ion J., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan

    प्रकाशित 2018
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  4. 4
    Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia

    Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia द्वारा Venincasa, Michael J., Randlett, Owen, Sumathipala, Sureni H., Bindernagel, Richard, Stark, Matthew J., Yan, Qing, Sloan, Steven A., Buglo, Elena, Meng, Qing Cheng, Engert, Florian, Züchner, Stephan, Kelz, Max B., Syed, Sheyum, Dallman, Julia E.

    प्रकाशित 2021
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  5. 5
    Identification of cellular targets of a series of boron heterocycles using TIPA II – a sensitive target identification platform

    Identification of cellular targets of a series of boron heterocycles using TIPA II – a sensitive target identification platform द्वारा Ward, Matthew S., Silva, Isba, Martinez, Walfre, Jefferson, Jameka, Rahman, Shakila, Garcia, Jeanie M., Kanichar, Divya, Roppiyakuda, Lance, Kosmowska, Ewa, Faust, Michelle A., Tran, Kim P., Chow, Felicia, Buglo, Elena, Zhou, Feimeng, Groziak, Michael P., Xu, H. Howard

    प्रकाशित 2016
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  6. 6
    A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

    A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement द्वारा 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

    प्रकाशित 2021
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  7. 7
    Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

    Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement द्वारा 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

    प्रकाशित 2021
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  8. 8
    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy द्वारा Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan

    प्रकाशित 2016
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  9. 9
    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia द्वारा Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

    प्रकाशित 2019
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  10. 10
    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia द्वारा Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, llyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry

    प्रकाशित 2019
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  11. 11
    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

    Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 द्वारा 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

    प्रकाशित 2018
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  12. 12
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia द्वारा 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

    प्रकाशित 2019
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  13. 13
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia द्वारा 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

    प्रकाशित 2019
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  14. 14
    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 द्वारा 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

    प्रकाशित 2020
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