Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Authors: Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo

Source: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up

Authors: Montomoli, Martino, Vetro, Annalisa, Tubili, Flavia, Donati, Maria Alice, Daniotti, Marta, Pochiero, Francesca, Rivieri, Francesca, Girlando, Salvatore, Guerrini, Renzo

Source: In European Journal of Medical Genetics August 2023 66(8)

The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion

Authors: Biasucci, Giacomo, Brodosi, Lucia, Bettocchi, Ilaria, Noto, Davide, Pochiero, Francesca, Urban, Maria Letizia, Burlina, Alberto

Source: Molecular genetics and metabolism. 136(2):94-100

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180638847.0x000001&indx=1&recIds=ETOCvdc_100180638847.0x000001

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients

Authors: Manti, Filippo, Nardecchia, Francesca, Banderali, Giuseppe, Burlina, Alberto, Carducci, Carla, Carducci, Claudia, Donati, Maria Alice, Gueraldi, Daniela, Paci, Sabrina, Pochiero, Francesca, Porta, Francesco, Ortolano, Rita, Rovelli, Valentina, Schiaffino, Maria Cristina, Spada, Marco, Blau, Nenad, Leuzzi, Vincenzo

Source: In Molecular Genetics and Metabolism September-October 2020 131(1-2):155-162

Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy

Authors: Tubili, Flavia, Pochiero, Francesca, Curcio, Maria Rosaria, Procopio, Elena

Source: Molecular genetics & genomic medicine. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170785804.0x000001&indx=1&recIds=ETOCvdc_100170785804.0x000001

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Authors: Moro, Francesca, Rubegni, Anna, Pochiero, Francesca, Mero, Serena, Procopio, Elena, Baldacci, Jacopo, Donati, Maria A., Santorelli, Filippo M.

Source: NEUROMUSCULAR DISORDERS. 29(1):67-69

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117304772.0x000001&indx=1&recIds=ETOCvdc_100117304772.0x000001

SARS-CoV-2 infection in a patient with propionic acidemia

Authors: Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183778672.0x000001&indx=1&recIds=ETOCvdc_100183778672.0x000001

Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.

Authors: Gorini, Francesca, Santoro, Michele, Pierini, Anna, Mezzasalma, Lorena, Baldacci, Silvia, Bargagli, Elena, Boncristiano, Alessandra, Brunetto, Maurizia Rossana, Cameli, Paolo, Cappelli, Francesco, Castaman, Giancarlo, Coco, Barbara, Donati, Maria Alice, Guerrini, Renzo, Linari, Silvia, Murro, Vittoria, Olivotto, Iacopo, Parronchi, Paola, Pochiero, Francesca, Rossi, Oliviero

Source: Frontiers in Pharmacology; 5/16/2022, Vol. 13, p1-19, 19p

Subject Terms: ORPHAN drugs, ORPHANS, RARE diseases, DRUG utilization, IDIOPATHIC pulmonary fibrosis, TUBEROUS sclerosis

Company/Entity: EUROPEAN Union, EUROPEAN Medicines Agency

Italian national consensus statement on management and pharmacological treatment of phenylketonuria.

Authors: Burlina, Alberto, Biasucci, Giacomo, Carbone, Maria Teresa, Cazzorla, Chiara, Paci, Sabrina, Pochiero, Francesca, Spada, Marco, Tummolo, Albina, Zuvadelli, Juri, Leuzzi, Vincenzo

Source: Orphanet Journal of Rare Diseases; 11/16/2021, Vol. 16, p1-18, 18p

Subject Terms: PHENYLKETONURIA, DRUG therapy, DISEASE management, PHENYLALANINE, TYROSINE

Geographic Terms: ITALY

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.

Authors: Tolomeo, Deborah, Rubegni, Anna, Nesti, Claudia, Barghigiani, Melissa, Battini, Roberta, D'Amore, Francesca, Doccini, Stefano, Donati, Maria Alice, Galatolo, Daniele, Giglio, Sabrina, Guarducci, Silvia, Pantaleo, Marilena, Pasquariello, Rosa, Procopio, Elena, Pochiero, Francesca, Tessa, Alessandra, Santorelli, Filippo M. M.

Source: Journal of Medical Genetics; Aug2021, Vol. 58 Issue 8, p543-546, 4p

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The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.

Authors: Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone

Source: Journal of Clinical Medicine; Aug2021, Vol. 10 Issue 15, p3222-3222, 1p

Subject Terms: MITOCHONDRIAL pathology, NUCLEOTIDE sequencing, MITOCHONDRIAL DNA, NUCLEAR DNA, MEDICAL personnel, SENSITIVITY & specificity (Statistics)