Search Results - "Giagnacovo, Marzia"
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Role of Immunohistochemistry in the Identification of Supratentorial C11ORF95-RELA Fused Ependymoma in Routine Neuropathology
Published in The American journal of surgical pathology (01-01-2019)“…Ependymomas (EPs) are tumors of the brain and spinal cord constituting ∼10% of the childhood central nervous system neoplasms and about 30% in children aged <3…”
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Adapted physical exercise enhances activation and differentiation potential of satellite cells in the skeletal muscle of old mice
Published in Journal of anatomy (01-05-2016)“…During ageing, a progressive loss of skeletal muscle mass and a decrease in muscle strength and endurance take place, in the condition termed sarcopenia. The…”
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Interhemispheric Pediatric Meningioma, YAP1 Fusion-Positive
Published in Diagnostics (Basel) (01-10-2022)“…Meningiomas are uncommon in children and usually arise in the context of tumor-predisposing syndromes. Recently, YAP1-fusions have been identified for the…”
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PRAME expression in 137 primary cutaneous melanomas and comparison with 38 related metastases
Published in Pathology, research and practice (01-11-2023)“…Melanocytic lesions have always represented a diagnostic challenge for surgical pathologists. According to the literature, PRAME showed great promise as an…”
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IgMκ-IgMλ pair quantitation in the clinical laboratory practice
Published in Clinical biochemistry (01-01-2018)“…New Hevylite® assay quantifies the immunoglobulin classes, including IgM bound to light chains, allowing distinguishing immunoglobulins involved and uninvolved…”
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Retrospective analysis on the consistency of MRI features with histological and molecular markers in diffuse intrinsic pontine glioma (DIPG)
Published in Child's nervous system (01-04-2020)“…Purpose The diagnosis of diffuse intrinsic pontine glioma (DIPG) is based largely on a combination of clinical and radiological findings due to the difficulty…”
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SIOP Ependymoma I: Final results, long-term follow-up, and molecular analysis of the trial cohort-A BIOMECA Consortium Study
Published in Neuro-oncology (Charlottesville, Va.) (01-06-2022)“…SIOP Ependymoma I was a non-randomised trial assessing event free and overall survival (EFS/OS) of non-metastatic intracranial ependymoma in children aged 3-21…”
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MBNL2-ALK: A novel ALK fusion transcript in a sinonasal melanoma
Published in EJC skin cancer (2024)Get full text
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Treatment and outcome of intracranial ependymoma after first relapse in the 2nd AIEOP protocol
Published in Neuro-oncology (Charlottesville, Va.) (12-03-2022)“…Abstract Background More than 40% of patients with intracranial ependymoma need a salvage treatment within 5 years after diagnosis, and no standard treatment…”
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EPEN-04. SIOP EPENDYMOMA I: FINAL RESULTS, LONG TERM FOLLOW-UP AND MOLECULAR ANALYSIS OF THE TRIAL COHORT: A BIOMECA CONSORTIUM STUDY
Published in Neuro-oncology (Charlottesville, Va.) (01-06-2021)“…Abstract Introduction Surgery and radiotherapy are established childhood ependymoma treatments. The efficacy of chemotherapy has been debated. We report final…”
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Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2
Published in Neuromuscular disorders : NMD (01-12-2014)“…Highlights • Disease progression in DM2 is slow even after 10-year interval. • Muscle morphological alterations evolve more rapidly than molecular changes. •…”
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A Peculiar CLL Case with Complex Chromosome 6 Rearrangements and Refinement of All Breakpoints at the Gene Level by Genomic Array: A Case Report
Published in Journal of clinical medicine (01-06-2023)“…Chronic lymphocytic leukemia (CLL), the most common leukemia in Western countries, is a mature B-cell chronic lymphoproliferative disorder characterized by the…”
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RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy
Published in Histochemistry and cell biology (01-04-2011)“…Myotonic dystrophies (DMs) are characterised by highly variable clinical manifestations consisting of muscle weakness and atrophy, and a wide spectrum of…”
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Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
Published in Journal of neurology (01-10-2012)“…Myotonic dystrophy type 2 (DM2) is a common adult onset muscular dystrophy caused by a dominantly transmitted (CCTG) n expansion in intron 1 of the CNBP gene…”
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Interhemispheric Pediatric Meningioma, IYAP1/I Fusion-Positive
Published in Diagnostics (Basel) (01-09-2022)“…Meningiomas are uncommon in children and usually arise in the context of tumor-predisposing syndromes. Recently, YAP1-fusions have been identified for the…”
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Physical training modulates structural and functional features of cell nuclei in type II myofibers of old mice
Published in Rejuvenation research (01-10-2011)“…Aging is associated with a progressive loss of muscle mass, strength, and function, a condition known as sarcopenia, which represents an important risk factor…”
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Human myoblasts from skeletal muscle biopsies: in vitro culture preparations for morphological and cytochemical analyses at light and electron microscopy
Published in Methods in molecular biology (Clifton, N.J.) (2013)“…We describe protocols for the isolation of satellite cells from human muscle biopsies, for the in vitro culture of proliferating and differentiating myoblasts,…”
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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
Published in Molecular genetics & genomic medicine (01-01-2020)“…Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no…”
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A Peculiar CLL Case with Complex Chromosome 6 Rearrangements and Refinement of All Breakpoints at the Gene Level by Genomic Array: A Case Report
Published in Journal of clinical medicine (17-06-2023)“…INTRODUCTIONChronic lymphocytic leukemia (CLL), the most common leukemia in Western countries, is a mature B-cell chronic lymphoproliferative disorder…”
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