Výsledky vyhledávání - Ferla, Matteo P

Eumalacostracan phylogeny and total evidence: limitations of the usual suspects Autor Jenner, Ronald A, Dhubhghaill, Ciara Ní, Ferla, Matteo P, Wills, Matthew A

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New rRNA Gene-Based Phylogenies of the Alphaproteobacteria Provide Perspective on Major Groups, Mitochondrial Ancestry and Phylogenetic Instability Autor Ferla, Matteo P., Thrash, J. Cameron, Giovannoni, Stephen J., Patrick, Wayne M.

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MichelaNglo: sculpting protein views on web pages without coding Autor Ferla, Matteo P, Pagnamenta, Alistair T, Damerell, David, Taylor, Jenny C, Marsden, Brian D

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GM1‐Gangliosidosis Type III Associated Parkinsonism Autor Kaiyrzhanov, Rauan, Guliyeva, Ulviyya, Gulieva, Sughra, Salayev, Kamran, Mursalova, Aytan, Allahyarova, Parvin, Ferla, Matteo P., Houlden, Henry

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Evolving Accelerated Amidation by SpyTag/SpyCatcher to Analyze Membrane Dynamics Autor Keeble, Anthony H., Banerjee, Anusuya, Ferla, Matteo P., Reddington, Samuel C., Anuar, Irsyad N. A. Khairil, Howarth, Mark

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DogCatcher allows loop-friendly protein-protein ligation Autor Keeble, Anthony H., Yadav, Vikash K., Ferla, Matteo P., Bauer, Claudia C., Chuntharpursat-Bon, Eulashini, Huang, Jin, Bon, Robin S., Howarth, Mark

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Commentary: GM1‐Gangliosidosis Type III Associated Parkinsonism Autor Kurian, Manju A., Kaiyrzhanov, Rauan, Allahyarova, Parvin, Guliyeva, Ulviyya, Gulieva, Sughra, Salayev, Kamran, Mursalova, Aytan, Ferla, Matteo P., Houlden, Henry, Cardoso, Francisco

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Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics Autor 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.

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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma Autor 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.

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Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 Macrodomain of SARS-CoV-2 Autor 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.

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome Autor 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

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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease Autor 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

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms Autor 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

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease Autor 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

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy Autor 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

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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 Autor 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

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy Autor 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

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Fragment Binding to the Nsp3 Macrodomain of SARS-CoV-2 Identified Through Crystallographic Screening and Computational Docking Autor 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

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Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational docking Autor 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

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Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas... Autor 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

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