Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Autor: Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica Rosati

Publikováno v: Stem Cell Research, Vol 40, Iss , Pp - (2019)

Dentato-Rubral-pallidoluysian atrophy (DRPLA) is a rare autosomal, dominant, progressive neurodegenerative disease that causes involuntary movements, mental and emotional problems. DRPLA is caused by a mutation in the ATN1 gene that encodes for an ab

Externí odkaz: https://doaj.org/article/889f68d9edda468683d217410dde637f

Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial

Autor: Silvia Lanfranconi, Elisa Scola, Jennifer M T A Meessen, Roberto Pallini, Giulio A Bertani, Rustam Al-Shahi Salman, Elisabetta Dejana, Roberto Latini, Giorgia Abete Fornara, Nicolò M. Agnelli, Alessio Albanese, Issam Awad, Renzo Bagnati, Giovanna Balconi, Elena Ballabio, Ettore Beghi, Roberto Bernasconi, Giulio A. Bertani, Silvia Besana, Adriana Blanda, Chiara Bossi, Nereo Bresolin, Maria G. Buratti, Roberta Calabrese, Maria R. Carriero, Marco Castori, Elisa F. Ciceri, Rossella Ciurleo, Giacomo P. Comi, Valeria Contarino, Giorgio Conte, Leonardo D'Agruma, Giorgio Q. D'Alessandris, Ugo de Grazia, Rina Di Bonaventura, Piergiorgio d'Orio, Giuseppe Farago', Andreana Foresta, Carmela Fusco, Chiara Gaudino, Maria G. Lampugnani, Alessia Lanno, Francesca Lazzaroni, Cornelia Lee, Marco Locatelli, Aldo P. Maggioni, Peetra Magnusson, Matteo Malinverno, Maurizio Mangiavacchi, Antonella Mangraviti, Silvia Marino, Selene Mazzola, Enrico B. Nicolis, Deborah Novelli, Maria L. Ojeda Fernandez, Antonio Petracca, Fabrizio Pignotti, Simona Pogliani, Marco Poloni, Alessandro Prelle, Pamela Raggi, Franca Raucci, Caroline Regna-Gladin, Dario Ronchi, Emma Scelzo, Salim Seyfried, Anna Simeone, Carmelo L. Sturiale, Laura Tassi, Mauro Tettamanti, Valter Torri, Elisabeth Tournier-Lasserve, Rita Treglia, Fabio M. Triulzi, Celeste Ungaro, Elison Ursi, Gloria Valcamonica, Antonella Vasami', Barbara Zarino

Publikováno v: 2022, ' Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM) : a randomised, open-label, blinded-endpoint, phase 2 pilot trial ', Lancet Neurology, vol. 22, no. 1, pp. 35-44 . https://doi.org/10.1016/S1474-4422(22)00409-4

BACKGROUND: Observations in people with cerebral cavernous malformations, and in preclinical models of this disorder, suggest that the β-blocker propranolol might reduce the risk of intracerebral haemorrhage. We aimed to evaluate the safety and effi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf849e3941f72e0e818d389cb7c8c758
https://doi.org/10.1016/s1474-4422(22)00409-4

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Autor: Camilla Caldarini, Francesco Andrea Causio, Marco Castori, Matteo Cassina, Vito Guarnieri, Carmela Fusco, Tommaso Biagini, Massimiliano Copetti, Alessandro De Luca, Simona Petrucci, Bartolomeo Augello, Antonio Petracca, Annalisa Rella, Lucia Micale, Leonardo D'Agruma, Rita Fischetto, Maria Cecilia D'Asdia, F. Annunziata, Grazia Nardella, Francesco Brancati, Teresa Mattina, Mario Bengala

Publikováno v: Human Molecular Genetics. 28:2133-2142

Hereditary multiple osteochondromas (HMO) is a rare autosomal dominant skeletal disorder, caused by heterozygous variants in either EXT1 or EXT2, which encode proteins involved in the biogenesis of heparan sulphate. Pathogenesis and genotype-phenotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e110582f4f17ca201d9af29d194f73c
https://doi.org/10.1093/hmg/ddz046

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants

Autor: Marco Castori, Marilena Carmela Di Giacomo, Leonardo D'Agruma, Grazia Nardella, Antonio Petracca, Carmela Fusco, Stefano Gambardella, Stefania Zampatti, Nicola Paciello, Silvia Lanfranconi, Lucia Micale, Dario Ronchi

Publikováno v: Clinical geneticsREFERENCES. 99(6)

Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system which may occur sporadically or segregate within families due to heterozygous variants in KRIT1/CCM1, MGC4607/CCM2 or PDCD10/CCM3. Intronic variants are no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8359f72143dfbe517b14197f8e96362e
https://pubmed.ncbi.nlm.nih.gov/33604894

Genetic testing for cerebral cavernous malformations

Autor: Tommaso Beccari, Matteo Bertelli, Yeltay Rakhmanov, Munis Dundar, Leonardo D'Agruma, Paolo Enrico Maltese, Carla Marinelli

Publikováno v: The EuroBiotech Journal, Vol 2, Iss s1, Pp 83-85 (2018)

Cavernous cerebral malformations (CCM) are vascular malformations of the brain and spinal cord. CCM affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhage and focal neurological deficit. CCM may be famil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac32ffb84d84dceb3467f1d4290dafbe
https://doaj.org/article/68aab2ae284649f8a76435d9d09574ed