Rezultati - Ferla, Matteo P
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Commentary: GM1‐Gangliosidosis Type III Associated Parkinsonism od Kurian, Manju A., Kaiyrzhanov, Rauan, Allahyarova, Parvin, Guliyeva, Ulviyya, Gulieva, Sughra, Salayev, Kamran, Mursalova, Aytan, Ferla, Matteo P., Houlden, Henry, Cardoso, Francisco
Izdano 2021Text -
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Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics od 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.
Izdano 2021Text -
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Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma od 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.
Izdano 2019Text -
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Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 Macrodomain of SARS-CoV-2 od 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.
Izdano 2022Text -
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome od 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
Izdano 2019Text -
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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease od 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
Izdano 2021Text -
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms od 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
Izdano 2021Text -
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Biallelic PI4KA variants cause neurological, intestinal and immunological disease od 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
Izdano 2021Text -
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy od 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
Izdano 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 od 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
Izdano 2021Text -
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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy od 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
Izdano 2021Text -
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Fragment Binding to the Nsp3 Macrodomain of SARS-CoV-2 Identified Through Crystallographic Screening and Computational Docking od 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
Izdano 2020Text -
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Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational docking od 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
Izdano 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... od 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
Izdano 2022Text