Zobrazeno 1 - 10
of 30
pro vyhledávání: '"C, Nascimbeni"'
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 144:268-274
Resume Introduction Le lymphome lymphoblastique (LBL) est un lymphome non hodgkinien (LNH) rare. Les localisations cutanees des LBL concernent moins de 20 % des patients. Observation Nous rapportons le cas d’un homme de 66 ans sans antecedent patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58f66c1fd3433cb2e80127a604ff1142
https://doi.org/10.1016/j.annder.2017.01.001
https://doi.org/10.1016/j.annder.2017.01.001
Autor:
Stefano C. Previtali, Michela Ripolone, Corrado Angelini, Paola Tonin, Antonio Toscano, Dario Ronchi, Lucia Morandi, Olimpia Musumeci, Massimiliano Filosto, Gigliola Fagiolari, Tiziana Mongini, Giacomo P. Comi, Simona Saredi, A. C. Nascimbeni, Raffaella Violano, Andreina Bordoni, Francesco Fortunato, Marco Sandri, M. Sciacco, Valeria Lucchini, Irene Colombo, Stefania Mondello, Maurizio Moggio, Marina Mora
Aims Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fiber vacuolization and autophagy. Since 2006, ERT is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0302e959724cbb43da5ca700e43eaa
http://hdl.handle.net/11562/983750
http://hdl.handle.net/11562/983750
Publikováno v:
International review of cell and molecular biology. 328
Macroautophagy is a lysosomal catabolic process that maintains the homeostasis of eukaryotic cells, tissues, and organisms. Macroautophagy plays important physiological roles during development and aging processes and also contributes to immune respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7627d3393f0e5585fa20d32c06e996c9
https://pubmed.ncbi.nlm.nih.gov/28069131
https://pubmed.ncbi.nlm.nih.gov/28069131
Haumea-one of the four known trans-Neptunian dwarf planets- is a very elongated and rapidly rotating body1-3. In contrast to other dwarf planets4-6, its size, shape, albedo and density are not well constrained. The Centaur Chariklo was the first body
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::9666096362ad8bc479dc9b250fecfcf4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056664
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056664
Publikováno v:
Neuropathology and Applied Neurobiology. 39:762-771
Aims The peculiar clinical features and the pathogenic mechanism related to calpain-3 deficiency (impaired sarcomere remodelling) suggest that the ubiquitin-proteasome degradation pathway may have a crucial role in Limb Girdle Muscular Dystrophy 2A (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::008cbcb368075f807ee0101746fe7740
https://doi.org/10.1111/nan.12034
https://doi.org/10.1111/nan.12034
Publikováno v:
Annales de dermatologie et de venereologie. 144(4)
Lymphoblastic lymphoma (LBL) is a rare form of non-Hodgkin's lymphoma (NHL). Cutaneous LBL is seen in less than 20% of patients.Herein, we report the case of a 66-year-old male patient without any previous disease history of note and who was presenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a2f01dfe63983b7078561338a5a3e96
https://pubmed.ncbi.nlm.nih.gov/28242092
https://pubmed.ncbi.nlm.nih.gov/28242092
Publikováno v:
Cell Death and Differentiation
Regulated removal of proteins and organelles by autophagy–lysosome system is critical for muscle homeostasis. Excessive activation of autophagy-dependent degradation contributes to muscle atrophy and cachexia. Conversely, inhibition of autophagy ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a3062982b73074b2dd2c8dad9d9490
https://doi.org/10.1038/cdd.2012.52
https://doi.org/10.1038/cdd.2012.52
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 144:S160
Introduction Les soins des patients atteints de cancer impliquent et impactent necessairement leurs proches. Neanmoins, il existe peu de donnees concernant la position et le vecu des proches des patients au sein du parcours de soin. L’objectif de c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80f1216e11f53d516358e755dcf0587e
https://doi.org/10.1016/j.annder.2017.09.230
https://doi.org/10.1016/j.annder.2017.09.230
Autor:
Vincenzo Nigro, Marco Spinazzi, Marina Fanin, Giulio Piluso, Gabriele Siciliano, Vm Ventriglia, A. C. Nascimbeni, L. Fulizio, Corrado Angelini, Luisa Politano, Carlo P. Trevisan, G. Ruzza
Publikováno v:
Human Mutation. 24:52-62
Limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a muscle specific protease. While a large number of CAPN3 gene mutations have already been described in calpainopathy patients, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e662770bfbe1d1286e030a64b9a571
https://doi.org/10.1002/humu.20058
https://doi.org/10.1002/humu.20058
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 142:S562-S563
Introduction Les hemopathies s’accompagnent frequemment de manifestations dermatologiques, precedant parfois le diagnostic hematologique. Nous rapportons un cas de dermatite granulomateuse satellite d’une myelodysplasie. Observations Une femme de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40f8deddf8f85c6954845d1a8c3209cf
https://doi.org/10.1016/j.annder.2015.10.296
https://doi.org/10.1016/j.annder.2015.10.296