Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Silvia Cipriani"'
Autor:
Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer, Emily O'Connor, Rita Horvath, Hans Hilmar Goebel, Denisa Hathazi, Hanns Lochmüller, Tatjana Straka, Rüdiger Rudolf, Joachim Weis, Andreas Roos
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 218-229 (2019)
Background: Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. As BiP is decisive for
Externí odkaz:
https://doaj.org/article/86c73da4fb03475eacefcedc8379d4c2
Publikováno v:
Giornale di Clinica Nefrologia e Dialisi, Vol 10, Iss 3 (1998)
Abstract non disponibile
Externí odkaz:
https://doaj.org/article/7ee42c30f3f94269be3e95e00b090305
Autor:
Silvia Cipriani, Marta Guerrero‐Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bähler, Alessandra Bolino
Publikováno v:
European journal of neurologyREFERENCES. 30(2)
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df087f59a36e550dbf68e45a32da7fd9
https://pubmed.ncbi.nlm.nih.gov/36260368
https://pubmed.ncbi.nlm.nih.gov/36260368
Autor:
Gaëtan Chicanne, Francesca Bianchi, Linda Sawade, Ivan de Curtis, Ubaldo Del Carro, Yesim Parman, Marta Guerrero-Valero, Roberta Di Guardo, Davide Pareyson, Valeria Alberizzi, Bernard Payrastre, Federica Grandi, Silvia Cipriani, Angelo Schenone, Alessandra Bolino, Volker Haucke
Publikováno v:
Proc Natl Acad Sci U S A
Charcot-Marie-Tooth type 4B1 (CMT4B1) is a severe autosomal recessive demyelinating neuropathy with childhood onset, caused by loss-of-function mutations in the myotubularin-related 2 (MTMR2) gene. MTMR2 is a ubiquitously expressed catalytically acti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cdec724fd3719cb7bff8dddbaf9c0f2
http://hdl.handle.net/11567/1057661
http://hdl.handle.net/11567/1057661
Autor:
Vincenzo Spagnolo, Marco Benvenuti, Jacopo Crezzini, Simona Arrighi, Adriana Moroni, Samuele Gardin, Francesco Boschin, Silvia Cipriani
The Middle Bronze Age site of Gorgo del Ciliegio is located in the Afra valley (Upper Tiber basin) in the proximity of strategic trans-Apennine passes connecting the Tyrrhenian regions of Central Italy to the Po plain and the Umbrian-Marches territor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aeeb5ce51a5b4537bd49e490c8a2a11
http://hdl.handle.net/11585/776218
http://hdl.handle.net/11585/776218
Autor:
Silvia Cipriani, Hanns Lochmüller, Rita Horvath, Roman Chrast, Vietxuan Phan, Jean-Jacques Médard, Sally Spendiff, Andreas Roos
Publikováno v:
International Journal of Molecular Sciences
Volume 19
Issue 12
International Journal of Molecular Sciences, Vol 19, Iss 12, p 4072 (2018)
Volume 19
Issue 12
International Journal of Molecular Sciences, Vol 19, Iss 12, p 4072 (2018)
The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in the SH3TC2 gene have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4357f8f052e0968fd01cd23b93442813
https://www.repository.cam.ac.uk/handle/1810/289871
https://www.repository.cam.ac.uk/handle/1810/289871
Autor:
Vietxuan Phan, Joachim Weis, Hans H. Goebel, Denisa Hathazi, Tatjana Straka, Hanns Lochmüller, Stephan Buchkremer, Rita Horvath, Rüdiger Rudolf, Dan Cox, Silvia Cipriani, Sally Spendiff, Andreas Roos, Emily O'Connor
Publikováno v:
Neurobiology of Disease, Vol 124, Iss, Pp 218-229 (2019)
Background Marinesco-Sjogren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. As BiP is decisive for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed2c377cf2b44846f48ccda85f87d9b
https://pubmed.ncbi.nlm.nih.gov/30468864
https://pubmed.ncbi.nlm.nih.gov/30468864
Autor:
Adriano De Majo, Silvia Cipriani, Efstathia Athanasopoulou, Daniele Bianchi, Dario Venditti, Eleonora Bernabei
Publikováno v:
La Prensa Medica. 105
Spontaneous Retroperitoneal Hemorrhage: a Case Report and an Overview of the Literature We report the case of a 74-year-old man afflicted with endstage renal disease, currently in chronic replacement therapy, taking warfarin on a regular basis, who p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2049af824b2569168ef28d43344b1a0a
https://doi.org/10.4172/lpma.1000172
https://doi.org/10.4172/lpma.1000172
Adequate protein dietary restriction in diabetic and nondiabetic patients with chronic renal failure
Autor:
Emilia Straccialano, Concetta Suraci, Bernardo Rossini, Paola Tatangelo, Carlo Meloni, Valeria Rossi, Damiano Di Franco, Annalisa Cecilia, C. Tozzo, Silvia Cipriani, Carlo Umberto Casciani
Publikováno v:
Journal of Renal Nutrition. 14:208-213
Objective To evaluate whether a dietary protein restriction is useful for slowing the progression of chronic renal failure (CRF) in diabetic and nondiabetic patients and to analyze the possible risk of malnutrition after such a dietary regimen. Desig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::250ebb982011ea871ccff5345d8cdf3c
https://doi.org/10.1053/j.jrn.2004.07.011
https://doi.org/10.1053/j.jrn.2004.07.011
Adequate protein dietary restriction in diabetic and nondiabetic patients with chronic renal failure
Autor:
Carlo Meloni, Paola Tatangelo, Silvia Cipriani, Valeria Rossi, Concetta Suraci, Carmela Tozzo, Bernardo Rossini, Annalisa Cecilia, Damiano Di Franco, Emilia Straccialano
Publikováno v:
Journal of Renal Nutrition. 14:208-213
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59f426bbe42c6e9265c02b9e15439812
https://doi.org/10.1016/s1051-2276(04)00135-9
https://doi.org/10.1016/s1051-2276(04)00135-9