Monica Traverso

Monica Traverso

UNVERIFIED PROFILE

Are you Monica Traverso?   Register this Author

Register author
Monica Traverso

Monica Traverso

Publications by authors named "Monica Traverso"

Are you Monica Traverso?   Register this Author

28Publications

901Reads

35Profile Views

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 08 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1688954DOI Listing
August 2019

Novel mutation in sarcotubular myopathy.

Acta Myol 2019 03 1;38(1):8-12. Epub 2019 Mar 1.

Pediatric Neurology and Neuromuscular Disorders, Istituto G. Gaslini and University of Genoa, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598407PMC
March 2019

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2018 Apr 2;57:63-65. Epub 2018 Mar 2.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2018.02.011DOI Listing
April 2018

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2017 Aug 15;50:80-82. Epub 2017 Jun 15.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2017.06.011DOI Listing
August 2017

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Birth Defects Res 2017 Jul 2;109(11):866-868. Epub 2017 May 2.

Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1032DOI Listing
July 2017

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Brain Dev 2016 Aug 17;38(7):663-8. Epub 2016 Feb 17.

Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2016.02.002DOI Listing
August 2016

Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.

Brain Dev 2016 Jan 23;38(1):128-31. Epub 2015 Jul 23.

Pediatric Neurology and Muscular Diseases Unit, Laboratory of Neurogenetics, Institute "G. Gaslini", Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2015.07.002DOI Listing
January 2016

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

Epilepsy Behav 2015 Oct 7;51:53-6. Epub 2015 Aug 7.

Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2015.06.029DOI Listing
October 2015

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.

J Child Neurol 2013 Jul 16;28(7):863-6. Epub 2012 Aug 16.

Child Neuropsychiatry Unit, Department of Neurosciences, Ophthalmology & Genetics, G. Gaslini Institute, University of Genoa, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812452789DOI Listing
July 2013

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.

Am J Physiol Cell Physiol 2006 Feb 28;290(2):C577-82. Epub 2005 Sep 28.

Muscular and Neurodegenerative Disease Unit, University of Genoa and G. Gaslini Pediatric Institute, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajpcell.00434.2005DOI Listing
February 2006

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.

Biochem Biophys Res Commun 2006 Jan 9;339(1):145-50. Epub 2005 Nov 9.

Unit of Muscular and Neurodegenerative Disease, University of Genova and Institute G.Gaslini, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2005.11.006DOI Listing
January 2006

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Muscle Nerve 2003 Oct;28(4):508-11

Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Largo G. Gaslini 5, I-16147, Genova, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mus.10429
Publisher Site
http://dx.doi.org/10.1002/mus.10429DOI Listing
October 2003