Zobrazeno 1 - 10
of 755
pro vyhledávání: '"M. Santorelli"'
Autor:
L. De Risio, M. Pettorruso, A. D’Onofrio, M. C. Vicinelli, C. De Troia, M. Santorelli, M. Boffa, P. Politi, G. Martinotti, F. Zoratto, M. Borgi
Publikováno v:
European Psychiatry, Vol 67, Pp S226-S226 (2024)
Introduction Social connection (SC) is a multi-dimensional concept capturing both the structural–quantitative (e.g., number of social relations, social contact frequency, network structure) and the functional–qualitative dimension (e.g., social s
Externí odkaz:
https://doaj.org/article/ba58e4e15c6f4bee895d00a63640ed89
Autor:
M. Pettorruso, R. Collevecchio, F. Zoratto, B. Collacchi, M. Boffa, M. Santorelli, M. Clerici, G. Martinotti, M. Borgi
Publikováno v:
European Psychiatry, Vol 66, Pp S415-S416 (2023)
Introduction Depression is a severe mental disorder with an estimated 3.8% of the population affected, representing a leading cause of disability worldwide. Being linked to reduced quality of life and individual functioning, medical morbidity and mor
Externí odkaz:
https://doaj.org/article/2a7b552182fb4df89ec239261790643f
Autor:
Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to
Externí odkaz:
https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffe
Autor:
Elisa Maria Turco, Angela Maria Giada Giovenale, Giovannina Rotundo, Martina Mazzoni, Paola Zanfardino, Katia Frezza, Isabella Torrente, Rose Mary Carletti, Devid Damiani, Filippo M. Santorelli, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Rosati
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102946- (2022)
Charcot-Marie-Tooth type 4B3 (CMT4B3) is a rare subtype of hereditary neuropathy associated with variants in the MTMR5/SBF1 gene. Herein, we report the generation and characterization of a hiPSC line from a 12-year-old Italian girl with early onset s
Externí odkaz:
https://doaj.org/article/0cab54b498fd4401a61f29e608acd898
Autor:
Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal trafficking in tandem
Externí odkaz:
https://doaj.org/article/762fb8ebeadd421d96de715d7615d7df
Autor:
Chiara Martinelli, Matteo Battaglini, Carlotta Pucci, Sara Gioi, Chiara Caracci, Gaia Macaluso, Stefano Doccini, Filippo M. Santorelli, Gianni Ciofani
Publikováno v:
ACS Omega, Vol 5, Iss 21, Pp 12451-12466 (2020)
Externí odkaz:
https://doaj.org/article/0d866591ccdd47b281f0e0e79049147b
Autor:
Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 573-578 (2020)
Abstract ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where t
Externí odkaz:
https://doaj.org/article/5e578e6b88534943875397040f482203
Autor:
Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 584-589 (2020)
Abstract Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP‐4). Using next‐generation sequencing, we identified three novel unrelated SPG52 patients fro
Externí odkaz:
https://doaj.org/article/e705ad72625a42b6bdc07ccec9f43a7e
Autor:
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 595-601 (2020)
Abstract Mutations in the ATPase family 3‐like gene (AFG3L2) have been linked to autosomal‐dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia‐neuropathy syndrome. Here, we describe the case of a child carrying bi‐a
Externí odkaz:
https://doaj.org/article/495630dc4a8a498f8790a277216d2f4e
Autor:
Federica Morani, Stefano Doccini, Daniele Galatolo, Francesco Pezzini, Rabah Soliymani, Alessandro Simonati, Maciej M. Lalowski, Federica Gemignani, Filippo M. Santorelli
Publikováno v:
Biomolecules, Vol 12, Iss 8, p 1024 (2022)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disease characterized by early-onset spasticity in the lower limbs, axonal-demyelinating sensorimotor peripheral neuropathy, and cerebellar ataxia. O
Externí odkaz:
https://doaj.org/article/8b531e9cf25049caa3896532704731a3