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List of works by Gaetano Vattemi

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

scientific article

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

scientific article published on 01 July 2001

A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture

scientific article published on 23 September 2019

Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies

scientific article published on 17 April 2015

Acetylcholine Receptor-Antibody-Positive Myasthenia Gravis Presenting with Early Atrophy and Nonfluctuating Weakness of Proximal Limb Muscles

scientific article published on 01 October 2020

Acute inflammatory demyelinating polyneuropathy as a manifestation of chronic lymphoproliferative disorder of NK cells

scientific article published on 11 March 2015

Adult-onset muscular dystrophy in a cat associated with a presumptive alteration in trafficking of caveolin-3.

scientific article published on 3 February 2012

Amyloid-beta42 is preferentially accumulated in muscle fibers of patients with sporadic inclusion-body myositis

scientific article

Anti-Ma-associated encephalomyeloradiculopathy in a patient with pleural mesothelioma

scientific article published on 29 January 2015

Autophagy, inflammation and innate immunity in inflammatory myopathies

scientific article

BACE1 and BACE2 in pathologic and normal human muscle

scientific article

Bortezomib-Induced Muscle Toxicity in Multiple Myeloma.

scientific article published on July 2017

Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

scientific article

Calpain 3 deficiency presenting as fibre type disproportion

scientific article published on 15 April 2009

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse

scientific article

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy.

scientific article

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.

scientific article published in April 2009

Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

scientific article published in June 2001

Cystatin C colocalizes with amyloid-beta and coimmunoprecipitates with amyloid-beta precursor protein in sporadic inclusion-body myositis muscles.

scientific article

Dermatomyositis and retroperitoneal germ cell cancer

scientific article published on 01 January 2001

Diagnostic performance and validation of autoantibody testing in myositis by a commercial line blot assay

scientific article published on 19 August 2010

Differential regulation of TNF receptors in maternal leukocytes is associated with severe preterm preeclampsia

scientific article

Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes

scientific article published on 12 November 2009

Endoplasmic reticulum stress and unfolded protein response in inclusion body myositis muscle.

scientific article

Endothelial dysfunction and increased oxidative stress in mitochondrial diseases

scientific article published on 01 March 2012

Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders

scientific article published on 2 November 2015

Evidence of er stress and upr activation in patients with brody disease and brody syndrome

scientific article published on 12 August 2017

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy

scientific article published on 01 February 2005

Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

scientific article

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

scientific article published on 11 September 2017

Immunoblot as a potential diagnostic tool for myofibrillar myopathies.

scientific article published on 18 September 2015

Increased epoxyeicosatrienoic acids and reduced soluble epoxide hydrolase expression in the preeclamptic placenta.

scientific article published on 23 April 2016

Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement.

scientific article

McArdle disease and sporadic inclusion body myositis

scientific article published on 11 February 2009

Multiple acyl-COA dehydrogenase deficiency in elderly carriers

scientific article published on 29 January 2020

Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis

scientific article

Muscular dystrophy with reduced beta-sarcoglycan in a cat.

scientific article published on 8 February 2009

Non-Hematologic Toxicity of Bortezomib in Multiple Myeloma: The Neuromuscular and Cardiovascular Adverse Effects

scientific article published on 07 September 2020

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

scientific article published on 14 March 2008

Overexpression of TNF-α in mitochondrial diseases caused by mutations in mtDNA: evidence for signaling through its receptors on mitochondria

scientific article published on 22 April 2013

Pearls & Oy-sters: an unusual case of varicella-zoster virus cerebellitis and vasculopathy.

scientific article published on January 2014

Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice

scientific article published on 2 October 2012

Pisa syndrome in Parkinson's disease: an electrophysiological and imaging study.

scientific article published on 22 May 2013

Polymyositis in solid organ transplant recipients receiving tacrolimus

scientific article published on 06 August 2014

Presence of BACE1 and BACE2 in muscle fibres of patients with sporadic inclusion-body myositis

scientific article published in December 2001

Relapsing-remitting painful masses of the skeletal muscle

scientific article published on 01 August 2019

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation

scientific article published in July 2017

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

scientific article published on 19 May 2006

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

Sarcoidosis and inclusion body myositis

scientific article published on 08 July 2008

Selective Pseudohypertrophy of Vastus Medialis Muscles Associated With Calpain 3 Deficiency

scientific article published on 01 September 2012

T-cell anti-apoptotic mechanisms in inflammatory myopathies

scientific article published on 01 November 2000

The role of muscle biopsy in investigating isolated muscle pain

scientific article published on 01 January 2007

Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mitochondrial diseases

scientific article published in February 2003

Transcriptional behavior of DMD gene duplications in DMD/BMD males

scientific article published on February 2009

Upper camptocormia in Parkinson's disease: Neurophysiological and imaging findings of both central and peripheral pathophysiological mechanisms

scientific article published on 11 January 2020

Uptake and intracellular distribution of different types of nanoparticles in primary human myoblasts and myotubes

scientific article published on 20 February 2019

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes

scientific article published on 10 November 2020

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