about
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse modelCathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisFrontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.Synthetic miniprion PrP106.Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies.Heterologous stacking of prion protein peptides reveals structural details of fibrils and facilitates complete inhibition of fibril growth.Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assemblyStrikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration.Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantA recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies.Four novel cases of periaxin-related neuropathy and review of the literature.Good gene, bad gene: new APP variant may be both.Therapy in prion diseases.Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice.Analysis of mammalian scrapie protein by novel monoclonal antibodies recognizing distinct prion protein glycoforms: an immunoblot and immunohistochemical study at the light and electron microscopic levels.Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome.Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.Conformational plasticity of the Gerstmann-Sträussler-Scheinker disease peptide as indicated by its multiple aggregation pathways.HIV-associated PML presenting as epilepsia partialis continua.Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.Stereotactic brain biopsy in human immunodeficiency virus-infected patients.Stem cell salvage of injured peripheral nerve.Activation of human microglia by fibrillar prion protein-related peptides is enhanced by amyloid-associated factors SAP and C1q.Familial frontotemporal dementia associated with the novel MAPT mutation T427M.Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein.A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
@hy
name
Michela Morbin
@ast
Michela Morbin
@en
Michela Morbin
@es
Michela Morbin
@nl
Michela Morbin
@sl
type
label
Michela Morbin
@ast
Michela Morbin
@en
Michela Morbin
@es
Michela Morbin
@nl
Michela Morbin
@sl
prefLabel
Michela Morbin
@ast
Michela Morbin
@en
Michela Morbin
@es
Michela Morbin
@nl
Michela Morbin
@sl
P106
P21
P31
P496
0000-0001-8034-3123