List of works - Filomena Napolitano

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease

scientific article published on 18 November 2014

An unusual case of primary choriocarcinoma of the lung

scientific article

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

scientific article

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

scientific article

Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation

scientific article published in 2017

Extrathoracic recurrence of type A thymoma

scientific article published on 22 May 2014

First study on the peptidergic innervation of the brain superior sagittal sinus in humans.

scientific article published on 24 April 2017

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

scientific article published on 22 July 2017

Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression

scientific article published on 14 October 2019

Migration of surgical clips through a right lobectomy stump mimicking an asthmatic syndrome.

scientific article

Pre-emptive local analgesia in video-assisted thoracic surgery sympathectomy.

scientific article published on 12 September 2009

Pulmonary sequestration presented as massive left hemothorax and associated with primary lung sarcoma

scientific article

Small cell lung cancer associated with solitary fibrous tumors of the pleura: a case study and literature review

scientific article

Spontaneous pneumothorax after chemotherapy for sarcoma with lung metastases: Case report and consideration of pathogenesis.

scientific article published on June 2011

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

scientific article published on 27 February 2018

Symptomatic Heterozygosity due to Definite GAA Mutations in Late-Onset Pompe Disease

article published in 2015

Unusual case of exacerbation of sub-acute descending necrotizing mediastinitis.

scientific article

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

scientific article published on 7 December 2017

Vascular endothelial growth factor in pleural fluid for differential diagnosis of benign and malignant origin and its clinical applications

scientific article published on 20 December 2010

List of works by Filomena Napolitano

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease

An unusual case of primary choriocarcinoma of the lung

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation

Extrathoracic recurrence of type A thymoma

First study on the peptidergic innervation of the brain superior sagittal sinus in humans.

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression

Migration of surgical clips through a right lobectomy stump mimicking an asthmatic syndrome.

Pre-emptive local analgesia in video-assisted thoracic surgery sympathectomy.

Pulmonary sequestration presented as massive left hemothorax and associated with primary lung sarcoma

Small cell lung cancer associated with solitary fibrous tumors of the pleura: a case study and literature review

Spontaneous pneumothorax after chemotherapy for sarcoma with lung metastases: Case report and consideration of pathogenesis.

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

Symptomatic Heterozygosity due to Definite GAA Mutations in Late-Onset Pompe Disease

Unusual case of exacerbation of sub-acute descending necrotizing mediastinitis.

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

Vascular endothelial growth factor in pleural fluid for differential diagnosis of benign and malignant origin and its clinical applications