Lista de obras - Michela Morbin - Dominio Público Uruguay

147th ENMC international workshop: guideline on processing and evaluation of sural nerve biopsies, 15-17 December 2006, Naarden, The Netherlands.

artículo científico publicado en 2007

A 52-Year-Old Man with Myoclonic Jerks

artículo científico publicado en 2016

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

artículo científico publicado en 2004

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

artículo científico publicado en 2009

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

scientific article published on March 2009

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

artículo científico publicado en 2012

Activation of human microglia by fibrillar prion protein-related peptides is enhanced by amyloid-associated factors SAP and C1q.

artículo científico publicado en 2005

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

artículo científico publicado en 2013

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

artículo científico publicado en 2013

Amyloid beta plaque-associated proteins C1q and SAP enhance the Abeta1-42 peptide-induced cytokine secretion by adult human microglia in vitro.

artículo científico publicado en 2002

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

artículo científico publicado en 2005

Antisulfatide polyneuropathy: antibody-mediated complement attack on peripheral myelin

artículo científico publicado en 1998

Atypical tauopathy with massive involvement of the white matter

artículo científico publicado en 2008

Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study ⬇️

artículo científico publicado el 22 de junio de 2012

Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice.

artículo científico publicado en 2012

CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia

artículo científico publicado en 2006

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2013

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

artículo científico publicado en 1998

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

artículo científico publicado en 2013

Conformational plasticity of the Gerstmann-Sträussler-Scheinker disease peptide as indicated by its multiple aggregation pathways

artículo científico publicado en 2008

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

artículo científico publicado en 1999

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

artículo científico publicado en 2000

Delayed spongiform leukoencephalopathy after heroin abuse

artículo científico publicado en 1997

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

artículo científico publicado en 2013

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

artículo científico publicado en 2003

Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies

artículo científico publicado en 2006

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

artículo científico publicado en 2005

Focal lesions area feature of chronic inflammatory demyelinating polyneuropathy (CIDP)

artículo científico publicado en 1998

Four novel cases of periaxin-related neuropathy and review of the literature.

artículo científico publicado en 2010

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

artículo científico publicado en 1999

Good gene, bad gene: new APP variant may be both

artículo científico

HIV-associated PML presenting as epilepsia partialis continua

artículo científico publicado en 1998

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

artículo científico publicado en 2010

Heterologous stacking of prion protein peptides reveals structural details of fibrils and facilitates complete inhibition of fibril growth

artículo científico publicado en 2009

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis

IDPN impairs post-traumatic regeneration of rat sciatic nerve

artículo científico publicado en 1993

Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.

artículo científico publicado en 2001

IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy

scientific article published on 01 February 2005

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

artículo científico publicado en 1999

Ischemic stroke as clinical onset of POEMS syndrome

artículo científico publicado en 2013

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

artículo científico publicado en 2011

Loss of exosomes in progranulin-associated frontotemporal dementia

artículo científico publicado en 2016

Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration

artículo científico publicado en 2012

Measles Inclusion-Body Encephalitis: Neuronal Phosphorylated Tau Protein is Present in the Biopsy but not in the Autoptic Specimens of the Same Patient

artículo científico publicado en 2015

Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model.

artículo científico publicado en 2008

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

scientific article published on 01 December 2012

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

scientific article published on 01 September 1999

Neuronal ceroid lipofuscinoses: detection of atypical forms

artículo científico publicado en 2000

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.

artículo científico publicado en 2010

Neurotoxic and gliotrophic activity of a synthetic peptide homologous to Gerstmann-Sträussler-Scheinker disease amyloid protein.

artículo científico publicado en 2007

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

artículo científico publicado en 2011

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

artículo científico publicado en 1999

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

artículo científico publicado en 2009

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

artículo científico publicado en 2011

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

artículo científico publicado en 2013

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

scientific journal article

Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody.

artículo científico publicado en 2006

Pentraxin-3 and VEGF in POEMS syndrome: a 2-year longitudinal study

artículo científico publicado en 2014

Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies

scientific article published on September 2010

Polyanion induced fibril growth enables the development of a reproducible assay in solution for the screening of fibril interfering compounds, and the investigation of the prion nucleation site

article

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

artículo científico publicado en 2007

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

article

Remitting infratentorial leukoencephalopathy in a patient with HIV infection

artículo científico publicado en 1998

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2007

Role of HIV in the pathogenesis of distal symmetrical peripheral neuropathy

article

Stem cell salvage of injured peripheral nerve

artículo científico publicado en 2013

Stereotactic brain biopsy in human immunodeficiency virus-infected patients

artículo científico publicado en 1996

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

artículo científico publicado en 2012

Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein.

artículo científico publicado en 2003

Synthetic miniprion PrP106.

artículo científico publicado en 2002

Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.

artículo científico publicado en 2016

The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease.

artículo científico publicado en 2007

The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly

artículo científico publicado en 2014

Therapy in prion diseases

artículo científico publicado en 2013

Tubule and neurofilament immunoreactivity in human hairy skin: Markers for intraepidermal nerve fibers

artículo científico publicado en 2004

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

artículo científico publicado en 2009

Lista de obras de Michela Morbin

147th ENMC international workshop: guideline on processing and evaluation of sural nerve biopsies, 15-17 December 2006, Naarden, The Netherlands.

A 52-Year-Old Man with Myoclonic Jerks

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

Activation of human microglia by fibrillar prion protein-related peptides is enhanced by amyloid-associated factors SAP and C1q.

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Amyloid beta plaque-associated proteins C1q and SAP enhance the Abeta1-42 peptide-induced cytokine secretion by adult human microglia in vitro.

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

Antisulfatide polyneuropathy: antibody-mediated complement attack on peripheral myelin

Atypical tauopathy with massive involvement of the white matter

Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study ⬇️

Brain delivery of AAV9 expressing an anti-PrP monovalent antibody delays prion disease in mice.

CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

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

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

Conformational plasticity of the Gerstmann-Sträussler-Scheinker disease peptide as indicated by its multiple aggregation pathways

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

Delayed spongiform leukoencephalopathy after heroin abuse

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

Focal lesions area feature of chronic inflammatory demyelinating polyneuropathy (CIDP)

Four novel cases of periaxin-related neuropathy and review of the literature.

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

Good gene, bad gene: new APP variant may be both

HIV-associated PML presenting as epilepsia partialis continua

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Heterologous stacking of prion protein peptides reveals structural details of fibrils and facilitates complete inhibition of fibril growth

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis

IDPN impairs post-traumatic regeneration of rat sciatic nerve

Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.

IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

Ischemic stroke as clinical onset of POEMS syndrome

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Loss of exosomes in progranulin-associated frontotemporal dementia

Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration

Measles Inclusion-Body Encephalitis: Neuronal Phosphorylated Tau Protein is Present in the Biopsy but not in the Autoptic Specimens of the Same Patient

Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model.

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

Neuronal ceroid lipofuscinoses: detection of atypical forms

Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.

Neurotoxic and gliotrophic activity of a synthetic peptide homologous to Gerstmann-Sträussler-Scheinker disease amyloid protein.

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody.

Pentraxin-3 and VEGF in POEMS syndrome: a 2-year longitudinal study

Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies

Polyanion induced fibril growth enables the development of a reproducible assay in solution for the screening of fibril interfering compounds, and the investigation of the prion nucleation site

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Remitting infratentorial leukoencephalopathy in a patient with HIV infection

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Role of HIV in the pathogenesis of distal symmetrical peripheral neuropathy

Stem cell salvage of injured peripheral nerve

Stereotactic brain biopsy in human immunodeficiency virus-infected patients

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein.

Synthetic miniprion PrP106.

Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.

The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease.

The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly

Therapy in prion diseases

Tubule and neurofilament immunoreactivity in human hairy skin: Markers for intraepidermal nerve fibers

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6