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List of works by Chiara Terracciano

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

scientific article published on 10 November 2015

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

scientific article

Aquaporin 4 expression in human skeletal muscle fiber types.

scientific article published on 28 November 2017

Association of HLA-DQB1∗05:02 and DRB1∗16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis

scientific article

Auto-reactions, autoimmunity and psoriatic arthritis

scientific article published on 05 August 2015

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

scientific article published on 25 July 2015

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis

scientific article published on 16 November 2016

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

scientific article published on 25 February 2016

Impaired autophagy in sporadic inclusion-body myositis and in endoplasmic reticulum stress-provoked cultured human muscle fibers

scientific article

Impaired healing of fragility fractures in type 2 diabetes: clinical and radiographic assessments and serum cytokine levels

scientific article published on 22 July 2015

In AbetaPP-overexpressing cultured human muscle fibers proteasome inhibition enhances phosphorylation of AbetaPP751 and GSK3beta activation: effects mitigated by lithium and apparently relevant to sporadic inclusion-body myositis

scientific article

In inclusion-body myositis muscle fibers Parkinson-associated DJ-1 is increased and oxidized

scientific article published on 14 June 2008

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

scientific article published on 6 January 2016

Inverse correlation between VEGF and soluble VEGF receptor 2 in POEMS with AIDP responsive to intravenous immunoglobulin

scientific article published on 01 September 2010

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

scientific article published on 22 October 2009

Neurofibromatous neuropathy: An ultrastructural study

scientific article published on 27 March 2018

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study

scientific article published on 29 August 2016

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

scientific article

Nodular morphea in a patient with Steinert disease.

scientific article published on 8 September 2017

Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot–Marie–Tooth disease type 1A

scientific article published on 01 March 2006

Periodic acid-Schiff staining on resin muscle sections: improvement in the histological diagnosis of late-onset Pompe disease

scientific article published on 01 April 2012

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Recurrent hyperCKemia with normal muscle biopsy in a pediatric patient with neuromyelitis optica

scientific article

Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires.

scientific article published on 10 July 2013

Stroke in COVID-19 patients-A case series from Italy

scientific article published on 22 June 2020

Subacute demyelinating polyneuropathy in B-cell lymphoma with IgM antibodies against glycolipid GD1b

scientific article published on 01 December 2005

Successful long-term therapy with flecainide in a family with paramyotonia congenita.

scientific article published on 27 February 2018

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

scientific article published on 20 November 2009

Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy.

scientific article published on 29 November 2006

Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

scientific article published on 7 December 2017

Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1

scientific article published on 31 August 2018

Vitamin D deficiency in myotonic dystrophy type 1.

scientific article published on 11 June 2013

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