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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationA novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in functionDifferentiation of mesenchymal stem cells derived from pancreatic islets and bone marrow into islet-like cell phenotypePituicytoma: Ultrastructural Evidence of a Possible Origin from Folliculo-Stellate Cells of the AdenohypophysisEsophageal cell proliferation in gastroesophageal reflux disease: clinical-morphological data before and after pantoprazoleLiver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathyPeripheral neuropathy associated with primary Sjögren's syndromeDifferent renal phenotypes in related adult males with Fabry disease with the same classic genotype.A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.Molecular mechanisms of CD99-induced caspase-independent cell death and cell-cell adhesion in Ewing's sarcoma cells: actin and zyxin as key intracellular mediators.Response of human chondrocytes and mesenchymal stromal cells to a decellularized human dermis.Medullocytoma (lipidized medulloblastoma). A cerebellar neoplasm of adults with favorable prognosis.Medullospheres from DAOY, UW228 and ONS-76 cells: increased stem cell population and proteomic modificationsEffect of omeprazole on symptoms and ultrastructural esophageal damage in acid bile reflux.Sclerosing paraganglioma of the carotid body: a potential pitfall of malignancy.XAV939-mediated ARTD activity inhibition in human MB cell lines.Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature.The empowerment of translational research: lessons from laminopathies.Lipolysis and lipophagy in lipid storage myopathies.Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.Activity of synthetic peptides against Chlamydia.In vitro activity of a partially purified and characterized bark extract of Castanea sativa Mill. (ENC®) against Chlamydia spp.Bacteria sorting by field-flow fractionation. Application to whole-cell Escherichia coil vaccine strains.Functional expression of calcium-permeable canonical transient receptor potential 4-containing channels promotes migration of medulloblastoma cells.Wnt activation affects proliferation, invasiveness and radiosensitivity in medulloblastoma.CD99 suppresses osteosarcoma cell migration through inhibition of ROCK2 activity.Radiobiologic response of medulloblastoma cell lines: involvement of beta-catenin?Juvenile dermatomyositis: A report of three cases.Intracellular distribution of beta-catenin in human medulloblastoma cell lines with different degree of neuronal differentiation.ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.Ultrastructural and immunohistochemical contribution to the histogenesis of human cardiac myxoma.Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function.A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutationsAn Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.Satellite cell characterization from aging human muscle.Mixed tumors, myoepitheliomas, and oncocytomas of the soft tissues are likely members of the same family: a clinicopathologic and ultrastructural study.Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.Sleep and cardiovascular phenotype in middle-aged hypocretin-deficient narcoleptic mice.
P50
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P50
description
researcher ORCID ID = 0000-0001-5824-3118
@en
wetenschapper
@nl
name
Giovanna Cenacchi
@ast
Giovanna Cenacchi
@en
Giovanna Cenacchi
@es
Giovanna Cenacchi
@nl
type
label
Giovanna Cenacchi
@ast
Giovanna Cenacchi
@en
Giovanna Cenacchi
@es
Giovanna Cenacchi
@nl
prefLabel
Giovanna Cenacchi
@ast
Giovanna Cenacchi
@en
Giovanna Cenacchi
@es
Giovanna Cenacchi
@nl
P106
P1153
24793596400
P21
P31
P496
0000-0001-5824-3118