Publications by authors named "Francesca Madia"

45Publications

Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes.

Eur J Orthop Surg Traumatol 2020 Oct 17. Epub 2020 Oct 17.

Department of Orthopaedics - Hand Surgery Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma - Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s00590-020-02807-yDOI Listing
October 2020

Acute myopathic quadriplegia in patients with COVID-19 in the intensive care unit.

Neurology 2020 09 29;95(11):492-494. Epub 2020 Jun 29.

From the UOC Neurofisiopatologia (F.M., B.M., G.P., S.S.), Fondazione Policlinico Universitario A. Gemelli IRCCS; Dipartimento di Scienze dell'Emergenza (S.L.C., G.D.P.), Anestesiologiche e della Rianimazione, Fondazione Policlinico Universitario A. Gemelli IRCCS; and Dipartimento Universitario di Neuroscienze (S.S.), Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000010280DOI Listing
September 2020

A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.

Seizure 2020 07 11;79:53-55. Epub 2020 May 11.

Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2020.05.001DOI Listing
July 2020

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Int J Dev Neurosci 2020 Jun 25;80(4):276-286. Epub 2020 Mar 25.

Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/jdn.10024DOI Listing
June 2020

Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23.

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):163. Epub 2019 Jul 2.

Paediatric Rheumatology Clinic, IRCCS Istituto Giannina Gallini, Genoa, Italy.

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January 2020

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Neurocase 2019 Feb - Apr;25(1-2):62-65. Epub 2019 Apr 16.

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

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http://dx.doi.org/10.1080/13554794.2019.1602144DOI Listing
December 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.

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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.

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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.

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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.

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

Case of postpartum Parsonage-Turner syndrome.

Muscle Nerve 2014 Feb 3;49(2):294-5. Epub 2013 Dec 3.

Don Carlo Gnocchi Onlus Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/mus.24073DOI Listing
February 2014

Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titer.

Intern Med 2010 1;49(23):2627-9. Epub 2010 Dec 1.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.2169/internalmedicine.49.4200DOI Listing
November 2011

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease.

Epilepsy Res 2010 May 1;89(2-3):232-7. Epub 2010 Feb 1.

Dept. of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.01.006DOI Listing
May 2010

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):479-82

Istituto di Neurologia, Università Cattolica del Sacro Cuore Rome, Italy.

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http://dx.doi.org/10.3109/17482960802302261DOI Listing
February 2010

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Muscle Nerve 2008 Aug;38(2):1060-4

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Pol. A Gemelli Largo Gemelli 8, Rome, Italy.

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http://dx.doi.org/10.1002/mus.21083DOI Listing
August 2008

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

Mol Genet Metab 2007 May 23;91(1):111-4. Epub 2007 Jan 23.

Institute of Neurology, Department of Neuroscience, Catholic University of Sacred Heart, L go A Gemelli 8, Rome, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2006.12.004DOI Listing
May 2007

Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.

Epilepsia 2005 Dec;46(12):1993-5

Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2005.00346.xDOI Listing
December 2005