Lista de obras - Anna Mazzeo - Dominio Público Uruguay

"Dropped-head" syndrome due to isolated myositis of neck extensor muscles: MRI findings

scientific article published on 12 October 2005

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

scientific article published on 01 March 2002

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

article

ANT1 is reduced in sporadic inclusion body myositis.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation

scientific article published on 21 August 2006

Autonomic involvement in subacute and chronic immune-mediated neuropathies.

artículo científico publicado en 2013

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

artículo científico publicado en 2014

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

artículo científico publicado en 2008

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

artículo científico publicado en 2008

Comparison between (99m)Tc-diphosphonate imaging and MRI with late gadolinium enhancement in evaluating cardiac involvement in patients with transthyretin familial amyloid polyneuropathy

artículo científico publicado en 2013

Comparison of different techniques for detecting 17p12 duplication in CMT1A

scientific article published on 01 July 2005

Considerable post-partum worsening in a patient with CMT2E.

artículo científico publicado en 2013

Etanercept for psoriasis and psoriatic arthritis in a patient with Charcot-Marie-Tooth disease

scientific article published on 01 April 2014

Expression of cytoskeleton proteins in central core disease.

artículo científico publicado en 1994

Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies

artículo científico publicado en 2007

Facial onset sensory motor neuronopathy: not always a slowly progressive disorder

artículo científico publicado en 2013

Fatal exacerbation of peripheral neuropathy during lamivudine therapy: evidence for iatrogenic mitochondrial damage.

artículo científico publicado en 2005

Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone.

artículo científico publicado en 2009

Heart rate variability: a diagnostic and prognostic tool in anesthesia and intensive care.

scientific article published on 09 June 2011

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

artículo científico publicado en 2013

Immunolocalization and activation of nuclear factor-kappaB in the sciatic nerves of rats with experimental autoimmune neuritis

artículo científico publicado en 2006

Immunolocalization and activation of transcription factor nuclear factor kappa B in dysimmune neuropathies and familial amyloidotic polyneuropathy

scientific article published on 01 July 2004

Left atrial function in cardiac amyloidosis

artículo científico publicado en 2014

Lipid peroxidation inhibition blunts nuclear factor-kappaB activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice.

artículo científico publicado en 2006

MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.

artículo científico publicado en 2011

MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy.

artículo científico publicado en 2010

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

artículo científico publicado en 2016

Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association

scientific article published on 01 August 2002

Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.

artículo científico publicado en 2016

Osteosclerotic Myeloma With Spinal Leptomeningitis and Severe Polyneuropathy

artículo científico publicado en 2006

Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy.

artículo científico publicado en 2016

Perineurium talin immunoreactivity decreases in diabetic neuropathy

artículo científico publicado en 1997

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

artículo científico publicado en 2006

Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy.

artículo científico publicado en 2008

Quantitative Comparison Between Amyloid Deposition Detected by (99m)Tc-Diphosphonate Imaging and Myocardial Deformation Evaluated by Strain Echocardiography in Transthyretin-Related Cardiac Amyloidosis.

artículo científico publicado en 2016

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2007

Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.

artículo científico publicado en 2005

Specific matrix metalloproteinase expression in focal myositis: an immunopathological study

artículo científico publicado en 2005

Subacute inflammatory demyelinating polyneuropathy disclosed by massive nerve root enhancement in CMT1A

scientific article published on 15 December 2011

Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response?

artículo científico publicado en 2015

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.

artículo científico publicado en 2016

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset

artículo científico publicado en 2012

Usefulness of Combining Electrocardiographic and Echocardiographic Findings and Brain Natriuretic Peptide in Early Detection of Cardiac Amyloidosis in Subjects With Transthyretin Gene Mutation

artículo científico publicado en 2015

Lista de obras de Anna Mazzeo

"Dropped-head" syndrome due to isolated myositis of neck extensor muscles: MRI findings

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

ANT1 is reduced in sporadic inclusion body myositis.

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

Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation

Autonomic involvement in subacute and chronic immune-mediated neuropathies.

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

Comparison between (99m)Tc-diphosphonate imaging and MRI with late gadolinium enhancement in evaluating cardiac involvement in patients with transthyretin familial amyloid polyneuropathy

Comparison of different techniques for detecting 17p12 duplication in CMT1A

Considerable post-partum worsening in a patient with CMT2E.

Etanercept for psoriasis and psoriatic arthritis in a patient with Charcot-Marie-Tooth disease

Expression of cytoskeleton proteins in central core disease.

Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies

Facial onset sensory motor neuronopathy: not always a slowly progressive disorder

Fatal exacerbation of peripheral neuropathy during lamivudine therapy: evidence for iatrogenic mitochondrial damage.

Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone.

Heart rate variability: a diagnostic and prognostic tool in anesthesia and intensive care.

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

Immunolocalization and activation of nuclear factor-kappaB in the sciatic nerves of rats with experimental autoimmune neuritis

Immunolocalization and activation of transcription factor nuclear factor kappa B in dysimmune neuropathies and familial amyloidotic polyneuropathy

Left atrial function in cardiac amyloidosis

Lipid peroxidation inhibition blunts nuclear factor-kappaB activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice.

MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease.

MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy.

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association

Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.

Osteosclerotic Myeloma With Spinal Leptomeningitis and Severe Polyneuropathy

Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy.

Perineurium talin immunoreactivity decreases in diabetic neuropathy

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy.

Quantitative Comparison Between Amyloid Deposition Detected by (99m)Tc-Diphosphonate Imaging and Myocardial Deformation Evaluated by Strain Echocardiography in Transthyretin-Related Cardiac Amyloidosis.

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy

Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.

Specific matrix metalloproteinase expression in focal myositis: an immunopathological study

Subacute inflammatory demyelinating polyneuropathy disclosed by massive nerve root enhancement in CMT1A

Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response?

TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.

Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset

Usefulness of Combining Electrocardiographic and Echocardiographic Findings and Brain Natriuretic Peptide in Early Detection of Cardiac Amyloidosis in Subjects With Transthyretin Gene Mutation