Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Maria Rosa Balestrini"'
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype
Autor:
Adriana Mazzanti, S Daniel, Renato Mantegazza, Giovanni Piccolo, Antonella Pini, Valeria Confalonieri, Pia Bernasconi, Marina Mora, F. Dworzak, Luciano Merlini, Maria Rosa Balestrini, Rita Barresi, Laura Jarre, Carlo Antozzi, Ferdinando Cornelio, Claudia Di Blasi, Flavia Blasevich, Lucia Morandi, Raffaella Brugnoni
Publikováno v:
Journal of the Neurological Sciences. 132:146-155
We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37067437edc176a04df58d956695075
https://doi.org/10.1016/0022-510x(95)00147-t
https://doi.org/10.1016/0022-510x(95)00147-t
Autor:
Lucia Morandi, Ferdinando Cornelio, Pia Bernasconi, Marina Mora, Maria Rosa Balestrini, Renato Mantegazza, Marinella Gebbia
Publikováno v:
Neuromuscular Disorders. 3:65-70
The genetic defect in a family with a mild form of Becker dystrophy was characterized by immunocytochemical, immunoblot and genomic DNA analysis in two patients and a carrier. Immunocytochemical localization on muscle preparations with a series of an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::912ac2c3dcf6cfdf24431425323f692c
https://doi.org/10.1016/0960-8966(93)90043-j
https://doi.org/10.1016/0960-8966(93)90043-j
Autor:
Luisa Chiapparini, Maria Rosa Balestrini, Maura Massimino, Bianca Pollo, Nicoletta Milani, Daria Riva
Publikováno v:
Journal of child neurology. 23(8)
Because of their clinical and neuroradiological features, tumefactive demyelinating lesions, or giant plaques, are easily mistaken for tumors, with a consequent risk of gross errors in the choice of treatment. This article reports a 10-year-old girl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ccb1048b50dc134b782c2bd19fb694
https://pubmed.ncbi.nlm.nih.gov/18344459
https://pubmed.ncbi.nlm.nih.gov/18344459
Transitory, spontaneously recovering, peripheral facial nerve palsy after vinorelbine administration
Autor:
M. La Spina, Lorenza Gandola, Monica Terenziani, Maura Massimino, Filippo Spreafico, Fabio Simonetti, Maria Rosa Balestrini
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 27(2)
Childhood intrinsic brain-stem gliomas have a dismal prognosis. Different treatment strategies have been adopted over the years without changing the final outcome of this ominous disease. Due to this grim prognosis, experimental therapeutic designs a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::455f3898622117ce6f1c964b7c219270
https://pubmed.ncbi.nlm.nih.gov/16816907
https://pubmed.ncbi.nlm.nih.gov/16816907
Autor:
Concezio Di Rocco, Laura Valentini, Elena Mazza, Franca Fossati-Bellani, Lorenza Gandola, Andrea Ferrari, Antonio Ruggiero, Michela Casanova, Piera Navarria, Graziella Cefalo, Monica Terenziani, Maura Massimino, Daria Riva, Cesare Colosimo, John David Tesoro-Tess, Filippo Spreafico, Maria Rosa Balestrini, Roberto Luksch, Riccardo Riccardi, Lorenzo Genitori
Publikováno v:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 20(20)
PURPOSE: The aim of this study was to avoid radiotherapy and to induce an objective response in children with low-grade glioma (LGG) using a simple chemotherapy regimen based on cisplatin and etoposide. PATIENTS AND METHODS: Thirty-four children (med
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77dc6c5afdad194e8b3a9ca91354aa53
https://pubmed.ncbi.nlm.nih.gov/12377964
https://pubmed.ncbi.nlm.nih.gov/12377964
Autor:
Maria Rosa Balestrini, Paolo Confalonieri, Stefania Galantini, Raffaella Brugnoni, Ferdinando Cornelio, Renato Mantegazza
Publikováno v:
Human Mutation. 14:447-447
Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaire
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5a1f0d772bcc76bce1086c08ebcecb
https://doi.org/10.1002/(sici)1098-1004(199911)14:5<447::aid-humu13>3.0.co
https://doi.org/10.1002/(sici)1098-1004(199911)14:5<447::aid-humu13>3.0.co
Autor:
E. Fedrizzi, Ferdinando Cornelio, F. Dworzak, L. Gondoni, Maria Rosa Balestrini, Lucia Morandi
Publikováno v:
The Italian Journal of Neurological Sciences. 3:323-330
A protocol for the evaluation of functional activities in subjects with Duchenne muscular dystrophy (DMD) was designed. The aim of our study was to define objective clinical criteria for the evaluation both of the clinical status of the patient and o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fae5e315eb3d3802daa7bbce1208119
https://doi.org/10.1007/bf02043581
https://doi.org/10.1007/bf02043581
Publikováno v:
Scopus-Elsevier
A 4-year-old boy had delayed psychomotor development, proximal weakness, increased serum CK, and myopathic EMG. Muscle biopsy was normal, but histochemical stain for phosphorylase showed no reaction. The enzyme defect was confirmed biochemically and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28eba9d798ab10a2a4df270f3012baf
https://pubmed.ncbi.nlm.nih.gov/6577313
https://pubmed.ncbi.nlm.nih.gov/6577313