Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Angelica, D'Amore"'
Autor:
Sameer C. Dhamne, Meera E. Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E. Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M. McTighe, Sarika Gurnani, Sheryl Anne D. Vermudez, Daniel Curtis, Christopher J. Wilson, Mustafa Q. Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahin
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1790-1801 (2023)
Abstract Objective Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by autosomal‐dominant pathogenic variants in either the TSC1 or TSC2 gene, and it is characterized by hamartomas in multiple organs, such as skin, kidney, l
Externí odkaz:
https://doaj.org/article/5e6e60c1d4644ed1b4ab20f434f5f54a
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Externí odkaz:
https://doaj.org/article/f36dc7373a0f48a6a88f335977e20675
Autor:
Gabriele Pizzino, Natasha Irrera, Federica Galfo, Giacomo Oteri, Marco Atteritano, Giovanni Pallio, Federica Mannino, Angelica D’Amore, Enrica Pellegrino, Federica Aliquò, Giuseppe P. Anastasi, Giuseppina Cutroneo, Francesco Squadrito, Domenica Altavilla, Alessandra Bitto
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/7a476b9be9914a44978cdc8f5e140e1c
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:
Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102335- (2021)
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of
Externí odkaz:
https://doaj.org/article/1a2c2c1c2a2c4516bb17492ea7c051c7
Autor:
Valentina Naef, Serena Mero, Gianluca Fichi, Angelica D'Amore, Asahi Ogi, Federica Gemignani, Filippo M. Santorelli, Maria Marchese
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Hereditary spastic paraplegia (HSP) and hereditary ataxia (HA) are two groups of disorders characterized, respectively, by progressive dysfunction or degeneration of the pyramidal tracts (HSP) and of the Purkinje cells and spinocerebellar tracts (HA)
Externí odkaz:
https://doaj.org/article/70d3766d7ccd4e69a2c248ca21cfb28b
Autor:
Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari
Publikováno v:
Stem Cell Research, Vol 40, Iss , Pp - (2019)
Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induce
Externí odkaz:
https://doaj.org/article/41717570b0b941e8bf0ac68810b4393e
Autor:
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Re
Externí odkaz:
https://doaj.org/article/88d19cc830784200a8ba57f6b7fe7905
Autor:
Gabriele Pizzino, Natasha Irrera, Federica Galfo, Giacomo Oteri, Marco Atteritano, Giovanni Pallio, Federica Mannino, Angelica D’Amore, Enrica Pellegrino, Federica Aliquò, Giuseppe P. Anastasi, Giuseppina Cutroneo, Francesco Squadrito, Domenica Altavilla, Alessandra Bitto
Publikováno v:
Frontiers in Pharmacology, Vol 8 (2017)
Glucocorticoid-induced osteoporosis (GIO) is a secondary cause of bone loss. Bisphosphonates approved for GIO, might induce jaw osteonecrosis; thus additional therapeutics are required. Adenosine receptor agonists are positive regulators of bone remo
Externí odkaz:
https://doaj.org/article/99179ac8a05f4db08cbc255e73b51ab5