Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation von Argan, Reem Al, Saskin, Avi, Yang, Ji Wei, D’Agostino, Maria Daniela, Rivera, Juan

Volltext

A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia von Richer, Julie, Hill, Hannah L., Wang, Yu, Yang, Min-Lee, Hunker, Kristina L., Lane, Jamie, Blackburn, Susan, Coleman, Dawn M., Eliason, Jonathan, Sillon, Guillaume, D’Agostino, Maria-Daniela, Jetty, Prasad, Mongeon, François-Pierre, Laberge, Anne-Marie, Ryan, Stephen E., Fendrikova-Mahlay, Natalia, Coutinho, Thais, Mathis, Michael R., Zawistowski, Matthew, Hazen, Stanley L., Katz, Alexander E., Gornik, Heather L., Brummett, Chad M., Abecasis, Goncalo, Bergin, Ingrid L., Stanley, James C., Li, Jun Z., Ganesh, Santhi K.

Volltext

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development von Lennox, Ashley L., Hoye, Mariah L., Jiang, Ruiji, Johnson-Kerner, Bethany L., Suit, Lindsey A., Venkataramanan, Srivats, Sheehan, Charles J., Alsina, Fernando C., Fregeau, Brieana, Aldinger, Kimberly A., Moey, Ching, Lobach, Iryna, Afenjar, Alexandra, Babovic-Vuksanovic, Dusica, Bézieau, Stéphane, Blackburn, Patrick R., Bunt, Jens, Burglen, Lydie, Campeau, Philippe M., Charles, Perrine, Chung, Brian H.Y., Cogné, Benjamin, Curry, Cynthia, D’Agostino, Maria Daniela, Di Donato, Nataliya, Faivre, Laurence, Héron, Delphine, Innes, A. Micheil, Isidor, Bertrand, Keren, Boris, Kimball, Amy, Klee, Eric W., Kuentz, Paul, Küry, Sébastien, Martin-Coignard, Dominique, Mirzaa, Ghayda, Mignot, Cyril, Miyake, Noriko, Matsumoto, Naomichi, Fujita, Atsushi, Nava, Caroline, Nizon, Mathilde, Rodriguez, Diana, Blok, Lot Snijders, Thauvin-Robinet, Christel, Thevenon, Julien, Vincent, Marie, Ziegler, Alban, Dobyns, William, Richards, Linda J., Barkovich, A. James, Floor, Stephen N., Silver, Debra L., Sherr, Elliott H.

Volltext

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives von Braverman, Nancy E., D'Agostino, Maria Daniela, MacLean, Gillian E.

Volltext

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic von Amir Yazdani, Pouneh, St-Jean, Marie-Lou, Matovic, Sara, Spahr, Aaron, Tran, Luan T., Boucher, Renée-Myriam, Poulin, Chantal, Osterman, Bradley, Srour, Myriam, Rosenblatt, Bernard, Chenier, Sébastien, Soucy, Jean-Francois, Laberge, Anne-Marie, Braverman, Nancy, D’Agostino, Maria Daniela, Nguyen, Cam-Tu Emilie, Morsa, Maxime, Bernard, Geneviève

Volltext

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease von Accogli, Andrea, Guerrero, Kether, D’Agostino, Maria Daniela, Tran, Luan, Cieuta-Walti, Cécile, Thiffault, Isabelle, Chénier, Sébastien, Schwartzentruber, Jeremy, Majewski, Jacek, Bernard, Geneviève

Volltext

Peroxisome biogenesis disorders von Argyriou, Catherine, D’Agostino, Maria Daniela, Braverman, Nancy

Volltext

PSMC5 insufficiency and P320R mutation impair proteasome function von Yu, Zhong-Qiu, Carmichael, Jenny, Collins, Galen A, D'Agostino, Maria Daniela, Lessard, Mathieu, Firth, Helen V, Harijan, Pooja, Fry, Andrew E, Dean, John, Zhang, Jiuchun, Kini, Usha, Goldberg, Alfred L, Rubinsztein, David C

Volltext

An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy von AlSabah, Al‐Alya, Alsalmi, Mohammed, Massie, Rami, Bilodeau, Marie‐Claude, Campeau, Philippe M., McGraw, Serge, D'Agostino, Maria Daniela

Volltext

Outcome of Surgical Treatment in Familial Mesial Temporal Lobe Epilepsy von Kobayashi, Eliane, D'Agostino, Maria Daniela, Lopes‐Cendes, Iscia, Andermann, Eva, Dubeau, François, Guerreiro, Carlos A. M., Schenka, André A., Queiroz, Luciano S., Olivier, André, Cendes, Fernando, Andermann, Frederick

Volltext

PSMC5 insufficiency and P320R mutation impair proteasome function von Yu, Zhong-Qiu, Carmichael, Jenny, Collins, Galen A, D'Agostino, Maria Daniela, Lessard, Mathieu, Firth, Helen V, Harijan, Pooja, Fry, Andrew E, Dean, John, Zhang, Jiuchun, Kini, Usha, Goldberg, Alfred L, Rubinsztein, David C

Volltext bestellen

AQP7 as a Novel Marker of p-Cresol-Induced Renal Cell Damage: Beneficial Effects of Hydroxytyrosol and a Polyphenolic Enriched Complex Derived from Olive Oil Mill Wastewater: FR-PO... von Angelini, Ines, Centrone, Mariangela, D'Agostino, Mariagrazia, Semeraro, Daniela, Mastrodonato, Maria, Caponio, Giusy Rita, Di Mise, Annarita, Ranieri, Marianna, Valenti, Giovanna, Tamma, Grazia

Volltext

Cardiometabolic multimorbidity is associated with a worse Covid-19 prognosis than individual cardiometabolic risk factors: a multicentre retrospective study (CoViDiab II) von Maddaloni, Ernesto, D'Onofrio, Luca, Alessandri, Francesco, Mignogna, Carmen, Leto, Gaetano, Pascarella, Giuseppe, Mezzaroma, Ivano, Lichtner, Miriam, Pozzilli, Paolo, Agro, Felice Eugenio, Rocco, Monica, Pugliese, Francesco, Lenzi, Andrea, Holman, Rury R., Mastroianni, Claudio Maria, Buzzetti, Raffaella

Volltext

Marine pollution in the Libyan coastal area: Environmental and risk assessment von Bonsignore, Maria, Salvagio Manta, Daniela, Al-Tayeb Sharif, Ehab A., D'Agostino, Fabio, Traina, Anna, Quinci, Enza Maria, Giaramita, Luigi, Monastero, Calogera, Benothman, Mohamed, Sprovieri, Mario

Volltext

Very low prevalence of ultrasound-detected tenosynovial abnormalities in healthy subjects throughout the age range: OMERACT ultrasound minimal disease study von Trickey, Jeanette, Sahbudin, Ilfita, Ammitzbøll-Danielsen, Mads, Azzolin, Irene, Borst, Carina, Bortoluzzi, Alessandra, Bruyn, George AW, Carron, Philippe, Ciurtin, Coziana, Filippou, Georgios, Fliciński, Jacek, Fodor, Daniela, Gouze, Hélène, Gutierrez, Marwin, Hammer, Hilde Berner, Hauge, Ellen-Margrethe, Iagnocco, Annamaria, Ikeda, Kei, Karalilova, Rositsa, Keen, Helen Isobel, Kortekaas, Marion C, La Paglia, Giuliana, Leon, Gustavo, Mandl, Peter, Maruseac, Mihaela, Milchert, Marcin, Mortada, Mohamed Atia, Naredo, Esperanza, Ohrndorf, Sarah, Pineda, Carlos, Rasch, Mads Nyhuus Bendix, Reátegui-Sokolova, Cristina, Sakellariou, Garifallia, Serban, Teodora, Sifuentes-Cantú, Cesar A, Stoenoiu, Maria S, Suzuk, Takeshi, Terslev, Lene, Tinazzi, Ilaria, Vreju, Florentin Ananu, Wittoek, Ruth, d’Agostino, Maria-Antonietta, Filer, Andrew

Volltext

Recreational Exposure during Algal Bloom in Carrasco Beach, Uruguay: A Liver Failure Case Report von Vidal, Flavia, Sedan, Daniela, D'Agostino, Daniel, Cavalieri, María Lorena, Mullen, Eduardo, Parot Varela, María Macarena, Flores, Cintia, Caixach, Josep, Andrinolo, Dario

Volltext

Factors associated with first- versus second-generation long-acting antipsychotics prescribed under ordinary clinical practice in Italy von Ostuzzi, Giovanni, Mazzi, Maria Angela, Terlizzi, Samira, Bertolini, Federico, Aguglia, Andrea, Bartoli, Francesco, Bortolaso, Paola, Callegari, Camilla, Caroleo, Mariarita, Carrà, Giuseppe, Corbo, Mariangela, D'Agostino, Armando, Gastaldon, Chiara, Lucii, Claudio, Magliocco, Fabio, Martinotti, Giovanni, Nosé, Michela, Ostinelli, Edoardo Giuseppe, Papola, Davide, Piccinelli, Marco Piero, Piccoli, Alberto, Purgato, Marianna, Tabacchi, Tommaso, Turrini, Giulia, Ruggeri, Mirella, Barbui, Corrado

Volltext

Cardiovascular Events and Intensity of Treatment in Polycythemia Vera von Marchioli, Roberto, Finazzi, Guido, Specchia, Giorgina, Cacciola, Rossella, Cavazzina, Riccardo, Cilloni, Daniela, De Stefano, Valerio, Elli, Elena, Iurlo, Alessandra, Latagliata, Roberto, Lunghi, Francesca, Lunghi, Monia, Marfisi, Rosa Maria, Musto, Pellegrino, Masciulli, Arianna, Musolino, Caterina, Cascavilla, Nicola, Quarta, Giovanni, Randi, Maria Luigia, Rapezzi, Davide, Ruggeri, Marco, Rumi, Elisa, Scortechini, Anna Rita, Santini, Simone, Scarano, Marco, Siragusa, Sergio, Spadea, Antonio, Tieghi, Alessia, Angelucci, Emanuele, Visani, Giuseppe, Vannucchi, Alessandro Maria, Barbui, Tiziano

Volltext

Guardians and Mediators of Metastasis: Exploring T Lymphocytes, Myeloid-Derived Suppressor Cells, and Tumor-Associated Macrophages in the Breast Cancer Microenvironment von Ruocco, Maria Rosaria, Gisonna, Armando, Acampora, Vittoria, D'Agostino, Anna, Carrese, Barbara, Santoro, Jessie, Venuta, Alessandro, Nasso, Rosarita, Rocco, Nicola, Russo, Daniela, Cavaliere, Annachiara, Altobelli, Giovanna Giuseppina, Masone, Stefania, Avagliano, Angelica, Arcucci, Alessandro, Fiume, Giuseppe

Volltext

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population von Benetti, Elisa, Tita, Rossella, Spiga, Ottavia, Ciolfi, Andrea, Birolo, Giovanni, Bruselles, Alessandro, Doddato, Gabriella, Giliberti, Annarita, Marconi, Caterina, Musacchia, Francesco, Pippucci, Tommaso, Torella, Annalaura, Trezza, Alfonso, Valentino, Floriana, Baldassarri, Margherita, Brusco, Alfredo, Asselta, Rosanna, Bruttini, Mirella, Furini, Simone, Seri, Marco, Nigro, Vincenzo, Matullo, Giuseppe, Tartaglia, Marco, Mari, Francesca, Renieri, Alessandra, Pinto, Anna Maria

Volltext