Resultados da pesquisa - Ferla, Matteo P
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New rRNA Gene-Based Phylogenies of the Alphaproteobacteria Provide Perspective on Major Groups, Mitochondrial Ancestry and Phylogenetic Instability Por Ferla, Matteo P., Thrash, J. Cameron, Giovannoni, Stephen J., Patrick, Wayne M.
Publicado em 2013Text -
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Commentary: GM1‐Gangliosidosis Type III Associated Parkinsonism Por Kurian, Manju A., Kaiyrzhanov, Rauan, Allahyarova, Parvin, Guliyeva, Ulviyya, Gulieva, Sughra, Salayev, Kamran, Mursalova, Aytan, Ferla, Matteo P., Houlden, Henry, Cardoso, Francisco
Publicado em 2021Text -
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Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics Por Acevedo-Rocha, Carlos G., Li, Aitao, D’Amore, Lorenzo, Hoebenreich, Sabrina, Sanchis, Joaquin, Lubrano, Paul, Ferla, Matteo P., Garcia-Borràs, Marc, Osuna, Sílvia, Reetz, Manfred T.
Publicado em 2021Text -
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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma Por Winter, Helen, Kaisaki, Pamela J., Harvey, Joe, Giacopuzzi, Edoardo, Ferla, Matteo P., Pentony, Melissa M., Knight, Samantha J.L., Sharma, Ricky A., Taylor, Jenny C., McCullagh, James S.O.
Publicado em 2019Text -
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Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 Macrodomain of SARS-CoV-2 Por Gahbauer, Stefan, Correy, Galen J., Schuller, Marion, Ferla, Matteo P., Doruk, Yagmur Umay, Rachman, Moira, Wu, Taiasean, Diolaiti, Morgan, Wang, Siyi, Neitz, R. Jeffrey, Fearon, Daren, Radchenko, Dmytro, Moroz, Yurii, Irwin, John J., Renslo, Adam R., Taylor, Jenny C., Gestwicki, Jason E., von Delft, Frank, Ashworth, Alan, Ahel, Ivan, Shoichet, Brian K., Fraser, James S.
Publicado em 2022Text -
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome Por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Publicado em 2019Text -
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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease Por Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary‐Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza‐Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima
Publicado em 2021Text -
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms Por Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola
Publicado em 2021Text -
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Biallelic PI4KA variants cause neurological, intestinal and immunological disease Por Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo P, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L
Publicado em 2021Text -
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy Por Marafi, Dana, Fatih, Jawid M, Kaiyrzhanov, Rauan, Ferla, Matteo P, Gijavanekar, Charul, Al-Maraghi, Aljazi, Liu, Ning, Sites, Emily, Alsaif, Hessa S, Al-Owain, Mohammad, Zakkariah, Mohamed, El-Anany, Ehab, Guliyeva, Ulviyya, Guliyeva, Sughra, Gaba, Colette, Haseeb, Ateeq, Alhashem, Amal M, Danish, Enam, Karageorgou, Vasiliki, Beetz, Christian, Subhi, Alaa A, Mullegama, Sureni V, Torti, Erin, Sebastin, Monisha, Breilyn, Margo Sheck, Duberstein, Susan, Abdel-Hamid, Mohamed S, Mitani, Tadahiro, Du, Haowei, Rosenfeld, Jill A, Jhangiani, Shalini N, Coban Akdemir, Zeynep, Gibbs, Richard A, Taylor, Jenny C, Fakhro, Khalid A, Hunter, Jill V, Pehlivan, Davut, Zaki, Maha S, Gleeson, Joseph G, Maroofian, Reza, Houlden, Henry, Posey, Jennifer E, Sutton, V Reid, Alkuraya, Fowzan S, Elsea, Sarah H, Lupski, James R
Publicado em 2021Text -
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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 Por Van Gucht, Ilse, Meester, Josephina A.N., Bento, Jotte Rodrigues, Bastiaansen, Maaike, Bastianen, Jarl, Luyckx, Ilse, Van Den Heuvel, Lotte, Neutel, Cédric H.G., Guns, Pieter-Jan, Vermont, Mandy, Fransen, Erik, Perik, Melanie H.A.M., Velchev, Joe Davis, Alaerts, Maaike, Schepers, Dorien, Peeters, Silke, Pintelon, Isabel, Almesned, Abdulrahman, Ferla, Matteo P., Taylor, Jenny C., Dallosso, Anthony R., Williams, Maggie, Evans, Julie, Rosenfeld, Jill A., Sluysmans, Thierry, Rodrigues, Desiderio, Chikermane, Ashish, Bharmappanavara, Gangadhara, Vijayakumar, Kayal, Mottaghi Moghaddam Shahri, Hassan, Hashemi, Narges, Torbati, Paria Najarzadeh, Toosi, Mehran B., Al-Hassnan, Zuhair N., Vogt, Julie, Revencu, Nicole, Maystadt, Isabelle, Miller, Erin M., Weaver, K. Nicole, Begtrup, Amber, Houlden, Henry, Murphy, David, Maroofian, Reza, Pagnamenta, Alistair T., Van Laer, Lut, Loeys, Bart L., Verstraeten, Aline
Publicado em 2021Text -
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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy Por Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O’Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry
Publicado em 2021Text -
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Fragment Binding to the Nsp3 Macrodomain of SARS-CoV-2 Identified Through Crystallographic Screening and Computational Docking Por Schuller, Marion, Correy, Galen J., Gahbauer, Stefan, Fearon, Daren, Wu, Taiasean, Díaz, Roberto Efraín, Young, Iris D., Martins, Luan Carvalho, Smith, Dominique H., Schulze-Gahmen, Ursula, Owens, Tristan W., Deshpande, Ishan, Merz, Gregory E., Thwin, Aye C., Biel, Justin T., Peters, Jessica K., Moritz, Michelle, Herrera, Nadia, Kratochvil, Huong T., Aimon, Anthony, Bennett, James M., Neto, Jose Brandao, Cohen, Aina E., Dias, Alexandre, Douangamath, Alice, Dunnett, Louise, Fedorov, Oleg, Ferla, Matteo P., Fuchs, Martin, Gorrie-Stone, Tyler J., Holton, James M., Johnson, Michael G., Krojer, Tobias, Meigs, George, Powell, Ailsa J., Rangel, Victor L, Russi, Silvia, Skyner, Rachael E., Smith, Clyde A., Soares, Alexei S., Wierman, Jennifer L., Zhu, Kang, Jura, Natalia, Ashworth, Alan, Irwin, John, Thompson, Michael C., Gestwicki, Jason E., von Delft, Frank, Shoichet, Brian K., Fraser, James S., Ahel, Ivan
Publicado em 2020Text -
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Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational docking Por Schuller, Marion, Correy, Galen J., Gahbauer, Stefan, Fearon, Daren, Wu, Taiasean, Díaz, Roberto Efraín, Young, Iris D., Carvalho Martins, Luan, Smith, Dominique H., Schulze-Gahmen, Ursula, Owens, Tristan W., Deshpande, Ishan, Merz, Gregory E., Thwin, Aye C., Biel, Justin T., Peters, Jessica K., Moritz, Michelle, Herrera, Nadia, Kratochvil, Huong T., Aimon, Anthony, Bennett, James M., Brandao Neto, Jose, Cohen, Aina E., Dias, Alexandre, Douangamath, Alice, Dunnett, Louise, Fedorov, Oleg, Ferla, Matteo P., Fuchs, Martin R., Gorrie-Stone, Tyler J., Holton, James M., Johnson, Michael G., Krojer, Tobias, Meigs, George, Powell, Ailsa J., Rack, Johannes Gregor Matthias, Rangel, Victor L., Russi, Silvia, Skyner, Rachael E., Smith, Clyde A., Soares, Alexei S., Wierman, Jennifer L., Zhu, Kang, O’Brien, Peter, Jura, Natalia, Ashworth, Alan, Irwin, John J., Thompson, Michael C., Gestwicki, Jason E., von Delft, Frank, Shoichet, Brian K., Fraser, James S., Ahel, Ivan
Publicado em 2021Text -
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Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas... Por Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry
Publicado em 2022Text