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List of works by Anna Mazzeo

"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.

scientific article published on 21 February 2012

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

scientific article

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.

scientific article published on 18 June 2013

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

scientific article published on 30 December 2014

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

scientific article

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

scientific article published on 20 August 2008

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

scientific article published on 01 March 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.

scientific article

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.

scientific article published in June 1994

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

scientific article published on 14 November 2007

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

scientific article published on 03 April 2013

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

scientific article published in August 2005

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

scientific article published on 25 September 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.

scientific article published on 4 February 2013

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

scientific article published on 06 March 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

scientific article

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

scientific article

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

scientific article published on 25 May 2011

MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy.

scientific article published on December 2010

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

scientific article published on 16 March 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.

scientific article published on 10 May 2016

Osteosclerotic Myeloma With Spinal Leptomeningitis and Severe Polyneuropathy

scientific article published on 01 July 2006

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

scientific article

Perineurium talin immunoreactivity decreases in diabetic neuropathy

scientific article published on 01 February 1997

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

scientific article

Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy.

scientific article

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

scientific article published in August 2016

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

scientific article published on 01 February 2007

Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.

scientific article published on 28 January 2005

Specific matrix metalloproteinase expression in focal myositis: an immunopathological study

scientific article published in September 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?

scientific article published on 24 June 2015

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

scientific article published on 23 February 2016

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

scientific article published on 01 December 2012

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

scientific article published on 16 July 2015

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