Sfoglia per Autore
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
2023 Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; Mccabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
2023 Protic, Dragana; Polli, Roberta; Hwang, Ye Hyun; Mendoza, Guadalupe; Hagerman, Randi; Durbin-Johnson, Blythe; Hayward, Bruce E; Usdin, Karen; Murgia, Alessandra; Tassone, Flora
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome?
2023 Spolaor, Fabiola; Guiotto, Annamaria; Piatkowska, Weronika; Di Giorgio, Elisa; Liani, Valentina; Polli, Roberta; Murgia, Alessandra; Sawacha, Zimi
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations
2023 Leonardi, Emanuela; Aspromonte, MARIA CRISTINA; Drongitis, Denise; Bettella, Elisa; Verrillo, Lucia; Polli, Roberta; Mcentagart, Meriel; Licchetta, Laura; Dilena, Robertino; D'Arrigo, Stefano; Ciaccio, Claudia; Esposito, Silvia; Leuzzi, Vincenzo; Torella, Annalaura; Baldo, Demetrio; Lonardo, Fortunato; Bonato, Giulia; Pellegrin, Serena; Stanzial, Franco; Posmyk, Renata; Kaczorowska, Ewa; Carecchio, Miryam; Gos, Monika; Rzońca-Niewczas, Sylwia; Giuseppina Miano, Maria; Murgia, Alessandra
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
2023 Vos, Niels; Reilly, Jack; Elting, Mariet W; Campeau, Philippe M; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J; Kaur, Simran; Stjohn, Miya; Morgan, Angela T; Kamien, Benjamin A; Patel, Chirag; Tedder, Matthew L; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters
2022 Piatkowska, WERONIKA JOANNA; Spolaor, Fabiola; Romanato, Marco; Polli, Roberta; Huang, Alessandra; Murgia, Alessandra; Sawacha, Zimi
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
2022 Cousin, Margot A; Veale, Emma L; Dsouza, Nikita R; Tripathi, Swarnendu; Holden, Robyn G; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H; Graham, John M; Haack, Tobias B; Juusola, Jane; Kant, Sarina G; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T; Kruisselbrink, Teresa M; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Lebel, Robert Roger; Leduc, Magalie S; Leonardi, Emanuela; Lewis, Andrea M; Liew, Wendy; Machol, Keren; Mardini, Samir; Mcwalter, Kirsty; Mignot, Cyril; Mclaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Céline; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K; Guillen Sacoto, Maria J; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T; Mathie, Alistair; Klee, Eric W
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
2022 Godler, David E; Ling, Ling; Gamage, Dinusha; Baker, Emma K; Bui, Minh; Field, Michael J; Rogers, Carolyn; Butler, Merlin G; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E; Skinner, Cindy D; Alliende, Angelica M; Santa Maria, Lorena; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
2022 Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Reza Bekheirnia, Mir; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Graham Jr, John M.; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Roger Lebel, Robert; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; Mcwalter, Kirsty; Mignot, Cyril; Mclaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Céline; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Guillen Sacoto, Maria J.; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Shien Tan, Ee; John, Taylor; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie &, Alistair; Klee, Eric W.
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families
2021 Di Giorgio, Elisa; Polli, Roberta; Lunghi, Marco; Murgia, Alessandra
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
2021 Ciaccio, C.; Leonardi, E.; Polli, R.; Murgia, A.; D'Arrigo, S.; Granocchio, E.; Chiapparini, L.; Pantaleoni, C.; Esposito, S.
Von Hippel-Lindau disease and multispecialist team
2021 Pavesi, G.; Feletti, A.; Ferrara, A. M.; Anglani, M.; Scarpa, B.; Schiavi, F.; Boaretto, F.; Zovato, S.; Taschin, E.; Gardi, M.; Zanoletti, E.; Piermarocchi, S.; Murgia, A.; Opocher, G.
A supervised classification of children with fragile X syndrome and controls driven by gait analysis data
2021 Piatkowska, W.; Romanato, M.; Spolaor, F.; Huang, A.; Murgia, A.; Sawacha, Z.
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait
2021 Sawacha, Z.; Spolaor, F.; Piatkowska, W. J.; Cibin, F.; Ciniglio, A.; Guiotto, A.; Ricca, M.; Polli, R.; Murgia, A.
PPP2R5D variants in patients with variable neurodevelopmental phenotype
2020 Aspromonte, MARIA CRISTINA; Leonardi, Emanuela; Polli, Roberta; Bettella, Elisa; Cameran, Marilena; Guerrini, Renzo; Murgia, Alessandra
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
2020 Leonardi, E.; Bettella, E.; Pelizza, M. F.; Aspromonte, M. C.; Polli, R.; Boniver, C.; Sartori, S.; Milani, D.; Murgia, A.
Alterations in surface EMG during gait in children with Fragile X Syndrome
2020 Sawacha, Z.; Spolaor, F.; Piatkowska, W.; Cibin, F.; Pavan, D.; Guiotto, A.; Polli, R.; Ricca, M.; Murgia, A.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
2020 1, Gabriella Vera; 2, Arthur Sorlin; 2, Geoffroy Delplancq; 1, François Lecoquierre; 3, Marie Brasseur-Daudruy; 4, Florence Petit; 5, Thomas Smol; 6, Alban Ziegler; 6, Dominique Bonneau; 6, Estelle Colin; 7, Sandra Mercier; 7, Benjamin Cogné; 7, Stéphane Bézieau; 8, Patrick Edery; 8, Gaetan Lesca; 8, Nicolas Chatron; 9, Isabelle Sabatier; Duban-Bedu 10, Bénédicte; Colson 11, Cindy; Piton 12, Amélie; Durand 12, Benjamin; Capri 13, Yline; Perrin 13, Laurence; Wiesener 14, Antje; Zweier 14, Christiane; Maroofian 15, Reza; J Carroll 16, Christopher; Galehdari 17, Hamid; Mazaheri 18, Neda; Callewaert 19, Bert; Giulianno 20, Fabienne; Zaafrane-Khachnaoui 21, Khaoula; Buchert-Lo 22, Rebecca; Haack 22, Tobias; Magg 23, Janine; Rieß 22, Angelika; Blandfort 24, Maria; Waldmüller 22, Stephan; Horber 23, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla 26, Licia; Murgia, Alessandra; 1, Thierry Frebourg; Sophie Lebre 28, Anne; 1, Gaël Nicolas; 1, Pascale Saugier-Veber; Guerrot 29, Anne-Marie
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
2020 Kaur, S.; Van Bergen, N. J.; Ben-Zeev, B.; Leonardi, E.; Tan, T. Y.; Coman, D.; Kamien, B.; White, S. M.; St John, M.; Phelan, D.; Rigbye, K.; Lim, S. C.; Torres, M. C.; Marty, M.; Savva, E.; Zhao, T.; Massey, S.; Murgia, A.; Gold, W. A.; Christodoulou, J.
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
2020 Leonardi, E.; Bellini, M.; Aspromonte, M. C.; Polli, R.; Mercante, A.; Ciaccio, C.; Granocchio, E.; Bettella, E.; Donati, I.; Cainelli, E.; Boni, S.; Sartori, S.; Pantaleoni, C.; Boniver, C.; Murgia, A.
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