Lista de obras - Stefano C. Previtali - Dominio Público Uruguay

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

artículo científico publicado en 2013

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

artículo científico publicado en 2014

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

artículo científico publicado en 2019

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

artículo científico publicado en 2014

A novel P0 glycoprotein transgene activates expression of lacZ in myelin-forming Schwann cells

artículo científico publicado en 1999

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

artículo científico publicado en 2015

Alpha6 beta4 and alpha6 beta1 integrins in astrocytomas and other CNS tumors

artículo científico publicado en 1996

Alpha6beta4 integrin and dystroglycan cooperate to stabilize the myelin sheath

artículo científico publicado en 2008

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Autoantibodies to Amphiphysin I and Amphiphysin II in a Patient with Sensory-Motor Neuropathy

artículo científico publicado en 2002

Autocrine and immune cell-derived BDNF in human skeletal muscle: implications for myogenesis and tissue regeneration

artículo científico publicado en 2013

Autoimmunity in the peripheral nervous system

artículo científico publicado en 2003

Beta 4 integrin and other Schwann cell markers in axonal neuropathy

artículo científico publicado en 1996

Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy.

artículo científico publicado en 2012

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases

artículo científico publicado en 2007

Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons

artículo científico publicado en 2002

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

artículo científico publicado en 2013

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

artículo científico publicado en 2015

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

artículo científico publicado en 2005

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

artículo científico publicado en 2017

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

artículo científico publicado en 2006

Diffuse intraneural leiomyoma in a case of sensorimotor neuropathy

artículo científico publicado en 2009

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

artículo científico publicado en 2004

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination

scientific journal article

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

artículo científico publicado en 2005

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

artículo científico publicado en 2017

Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.

artículo científico publicado en 2000

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

artículo científico publicado en 2013

Expanding the central nervous system disease spectrum associated with FLNC mutation

scientific article published on 20 February 2019

Expanding the spectrum of genes responsible for hereditary motor neuropathies

artículo científico publicado en 2019

Expression of angiopoietin-1 in human glioblastomas regulates tumor-induced angiogenesis: in vivo and in vitro studies.

artículo científico publicado en 2001

Expression of integrins in experimental autoimmune neuritis and Guillain-Barré syndrome

artículo científico publicado en 1998

Expression of laminin receptors in schwann cell differentiation: evidence for distinct roles.

artículo científico publicado en 2003

Foot pad skin biopsy in mouse models of hereditary neuropathy

artículo científico publicado en 2010

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

artículo científico publicado en 2011

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

artículo científico publicado en 2020

How Schwann Cells Sort Axons: New Concepts

artículo científico publicado en 2015

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice

artículo científico publicado en 2003

Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency

artículo científico publicado en 2007

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

artículo científico publicado en 2015

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

artículo científico publicado en 2012

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.

artículo científico publicado en 2008

Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients

artículo científico publicado en 2013

Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy

artículo científico publicado en 2015

Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy.

artículo científico publicado en 2016

Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating neuropathy not responsive to other treatments

artículo científico publicado en 1994

Jab1 regulates Schwann cell proliferation and axonal sorting through p27.

artículo científico publicado en 2013

Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

artículo científico publicado en 2016

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

artículo científico publicado en 2014

LYMPHOMATOUS NEUROPATHY IN COLD AGGLUTININ DISEASE

artículo científico publicado en 2008

Laminin receptor alpha6beta4 integrin is highly expressed in ENU-induced glioma in rat.

artículo científico publicado en 1999

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

artículo científico publicado en 2014

Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.

artículo científico publicado en 2016

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

artículo científico publicado en 2014

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

artículo científico publicado en 2005

Loss of glial fibrillary acidic protein (GFAP) impairs Schwann cell proliferation and delays nerve regeneration after damage

scientific journal article

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Matrix metalloproteinase-2 is involved in myelination of dorsal root ganglia neurons

artículo científico publicado en 2009

Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A.

artículo científico publicado en 2015

Modulation of the expression of integrins on glial cells during experimental autoimmune encephalomyelitis. A central role for TNF-alpha ⬇️

artículo científico publicado el 1 de noviembre de 1997

Motor nerve biopsy: Clinical usefulness and histopathological criteria

artículo científico publicado en 2010

Muscle MRI findings in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2015

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

artículo científico publicado en 2003

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

scientific article published on 31 October 2016

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

artículo científico publicado en 2015

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

artículo científico publicado en 2008

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

scientific article published on 11 September 2020

O-4The Italian Network for Laminopathies.

artículo científico publicado en 2011

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

artículo científico publicado en 2000

P0-Cre transgenic mice for inactivation of adhesion molecules in Schwann cells

artículo científico publicado en 1999

Peripheral Nerve Dysmyelination Due to P0 Glycoprotein Overexpression Is Dose-Dependent

artículo científico publicado en 1999

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

artículo científico publicado en 2007

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis

artículo científico publicado en 2005

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers

scientific article published in 2012

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures

artículo científico publicado en 2012

Schwann cell overexpression of the GPR7 receptor in inflammatory and painful neuropathies

artículo científico publicado en 2005

Schwann cells synthesize alpha7beta1 integrin which is dispensable for peripheral nerve development and myelination.

artículo científico publicado en 2003

The empowerment of translational research: lessons from laminopathies.

artículo científico publicado en 2012

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

artículo científico publicado en 2014

The extracellular matrix affects axonal regeneration in peripheral neuropathies.

artículo científico publicado en 2008

The mitochondrial protease AFG3L2 is essential for axonal development

artículo científico publicado en 2008

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

artículo científico publicado en 2016

Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies

artículo científico publicado en 2012

Vimentin regulates peripheral nerve myelination.

artículo científico publicado en 2012

Lista de obras de Stefano C. Previtali

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

A novel P0 glycoprotein transgene activates expression of lacZ in myelin-forming Schwann cells

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

Alpha6 beta4 and alpha6 beta1 integrins in astrocytomas and other CNS tumors

Alpha6beta4 integrin and dystroglycan cooperate to stabilize the myelin sheath

Analyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their Pathogenesis

Autoantibodies to Amphiphysin I and Amphiphysin II in a Patient with Sensory-Motor Neuropathy

Autocrine and immune cell-derived BDNF in human skeletal muscle: implications for myogenesis and tissue regeneration

Autoimmunity in the peripheral nervous system

Beta 4 integrin and other Schwann cell markers in axonal neuropathy

Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy.

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases

Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

Diffuse intraneural leiomyoma in a case of sensorimotor neuropathy

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

Expanding the central nervous system disease spectrum associated with FLNC mutation

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Expression of angiopoietin-1 in human glioblastomas regulates tumor-induced angiogenesis: in vivo and in vitro studies.

Expression of integrins in experimental autoimmune neuritis and Guillain-Barré syndrome

Expression of laminin receptors in schwann cell differentiation: evidence for distinct roles.

Foot pad skin biopsy in mouse models of hereditary neuropathy

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

How Schwann Cells Sort Axons: New Concepts

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice

Hypokalemic periodic paralysis in a patient with acquired growth hormone deficiency

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.

Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients

Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy

Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy.

Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating neuropathy not responsive to other treatments

Jab1 regulates Schwann cell proliferation and axonal sorting through p27.

Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

LYMPHOMATOUS NEUROPATHY IN COLD AGGLUTININ DISEASE

Laminin receptor alpha6beta4 integrin is highly expressed in ENU-induced glioma in rat.

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

Loss of glial fibrillary acidic protein (GFAP) impairs Schwann cell proliferation and delays nerve regeneration after damage

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Matrix metalloproteinase-2 is involved in myelination of dorsal root ganglia neurons

Mesoangioblast delivery of miniagrin ameliorates murine model of merosin-deficient congenital muscular dystrophy type 1A.

Modulation of the expression of integrins on glial cells during experimental autoimmune encephalomyelitis. A central role for TNF-alpha ⬇️

Motor nerve biopsy: Clinical usefulness and histopathological criteria

Muscle MRI findings in facioscapulohumeral muscular dystrophy

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

O-4The Italian Network for Laminopathies.

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

P0-Cre transgenic mice for inactivation of adhesion molecules in Schwann cells

Peripheral Nerve Dysmyelination Due to P0 Glycoprotein Overexpression Is Dose-Dependent

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures

Schwann cell overexpression of the GPR7 receptor in inflammatory and painful neuropathies

Schwann cells synthesize alpha7beta1 integrin which is dispensable for peripheral nerve development and myelination.

The empowerment of translational research: lessons from laminopathies.

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.