Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Maria Margollicci"'
Autor:
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 828-830 (2019)
Externí odkaz:
https://doaj.org/article/ab063084fde24753a9bf36cf044df4ce
Autor:
Renata Boldrini, Giovanna Zambruno, May El Hachem, Viola Alesi, Andrea Diociaiuti, Adriano Angioni, Maria Margollicci, Antonio Novelli, Elisa Pisaneschi
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 828-830 (2019)
Autor:
Daniele Ghezzi, Holger Prokisch, Alessia Nasca, Eleonora Lamantea, Enrico Baruffini, Christopher A. Powell, Laura Melchionda, Tobias B. Haack, Francesca Ragona, Tiziana Granata, Tim M. Strom, Maria Margollicci, Claudia Donnini, Paolo Balestri, Cristina Dallabona, Thomas Meitinger, Massimo Zeviani, Costanza Lamperti, Daria Diodato, Michal Minczuk
Publikováno v:
Human Mutation
Hum. Mutat. 35, 983-989 (2014)
Hum. Mutat. 35, 983-989 (2014)
By way of whole-exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated deficiency of the mitochondrial respiratory chain (MRC) complex I and compound heterozygous
Autor:
Vincenzo Sorrentino, Bita Shalbafan, Maria Margollicci, Liana Maria Africa, Mansoureh Togha, Antonio Federico, Simona Salvatore, L. Peruzzi
Publikováno v:
Neurological Sciences. 38:1721-1722
Autor:
Carla Battisti, Alessandro Malandrini, Maria Teresa Dotti, Marco Macucci, Antonio Federico, Paola Da Pozzo, Anna Rubegni, Edoardo Malfatti, Gian Nicola Gallus, Maria Margollicci, Carmen Gaudiano, Elena Cardaioli
Publikováno v:
Neurological Sciences. 31:491-494
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, pto
Autor:
Maria Margollicci, Giorgio Bernardi, Fiorella Piemonte, Roberto Massa, Vanna Micheli, Alessandra Tessa, Chiara Terracciano, Filippo M. Santorelli, Andrea Romigi, Giulia Tozzi
Publikováno v:
Neuromuscular Disorders. 19:837-840
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, ptosis, ophthalmoplegia, and leukoencephalopathy with early onset
Autor:
Paola Piomboni, Laura Gambera, Maria Margollicci, Vincenzo De Leo, Francesca Serafini, Maddalena Cioni, Alice Luddi, Paolo Balestri
Publikováno v:
New England Journal of Medicine. 360:881-885
Deletions in the azoospermia factor region AZFa on the human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific peptidase 9, Y-linked gene USP9Y have been implicated in infertility associated with oligospermia
Autor:
Anna Perrone, Elena Bargagli, M. G. Perari, Maria Margollicci, Alice Luddi, Nicolaos Nikiforakis, Salvatore Grosso, Paola Rottoli
Publikováno v:
Respiratory Medicine. 101:2176-2181
Summary Background In previous papers, we found significantly higher activity of chitotriosidase, a macrophage derived enzyme, in serum and BAL of patients with sarcoidosis, especially in those with progressing disease and lung involvement, than in c
Autor:
Paolo Galluzzi, M. Molinelli, F. Miracco, Palmino Sacco, Lucia Pucci, Raffaella Zannolli, Mauro Pierluigi, Walter Livi, Alberto Burlina, Paola Piomboni, Massimo Mogni, Clelia Miracco, Sabrina Buoni, Maria Margollicci, Maria Rosaria Massafra, Michele Zappella, Francesca Macucci, A. Cuccia, Maria Margherita De Santi, James A. Swift, Michele Fimiani
Publikováno v:
Brain and Development. 28:155-161
Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive b
Autor:
R. Vivarelli, Rosario Berardi, Guido Morgese, Paolo Galluzzi, Maria Angela Farnetani, Salvatore Grosso, Paolo Ballestri, Maria Margollicci
Publikováno v:
Journal of Neurology. 250:17-21
Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic resonance imaging (MRI) findings from three patients affected by GM2 gangliosidosis varian