Publications by authors named "Romina Romaniello"

34Publications

Age and sex prevalence estimate of Joubert syndrome in Italy.

Neurology 2020 02 22;94(8):e797-e801. Epub 2020 Jan 22.

From the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136056PMC
February 2020

Epilepsy in Tubulinopathy: Personal Series and Literature Review.

Cells 2019 07 2;8(7). Epub 2019 Jul 2.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy.

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http://dx.doi.org/10.3390/cells8070669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678821PMC
July 2019

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Eur Radiol 2019 Feb 31;29(2):770-782. Epub 2018 Jul 31.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1007/s00330-018-5610-0DOI Listing
February 2019

Tubulin genes and malformations of cortical development.

Eur J Med Genet 2018 Dec 17;61(12):744-754. Epub 2018 Jul 17.

Department of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.012DOI Listing
December 2018

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

J Child Neurol 2017 01 29;32(1):60-71. Epub 2016 Sep 29.

1 Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1177/0883073816664668DOI Listing
January 2017

Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype.

Eur Radiol 2016 Aug 11;26(8):2587-96. Epub 2015 Nov 11.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1007/s00330-015-4084-6DOI Listing
August 2016

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.

Res Dev Disabil 2015 Dec 23;47:375-84. Epub 2015 Oct 23.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.ridd.2015.09.013DOI Listing
December 2015

Neurophysiological and clinical findings on Nodding Syndrome in 21 South Sudanese children and a review of the literature.

Seizure 2015 Sep 20;31:64-71. Epub 2015 Jul 20.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311150017
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http://dx.doi.org/10.1016/j.seizure.2015.07.006DOI Listing
September 2015

Learning to live without the cerebellum.

Neuroreport 2015 Sep;26(14):809-13

aNeuroimaging Unit bNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute, Lecco cDepartment of Information Engineering, University of Padova, Padova dMandel Laboratory, Scientific Institute, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1097/WNR.0000000000000428DOI Listing
September 2015

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

Neuroreport 2015 Mar;26(5):254-7

aNeuropsychiatry and Neurorehabilitation Unit bLaboratory of Molecular Biology cNeuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco dDepartment of Pediatrics, San Gerardo Hospital, Monza, University of Milano Bicocca, Milano, Italy.

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http://dx.doi.org/10.1097/WNR.0000000000000337DOI Listing
March 2015

Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

Brain Dev 2015 Mar 5;37(3):273-80. Epub 2014 Jul 5.

Neuropsychiatry and Neurorehabilitation Unit, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.06.002DOI Listing
March 2015

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Dev Med Child Neurol 2014 Apr 7;56(4):354-60. Epub 2014 Jan 7.

Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1111/dmcn.12370DOI Listing
April 2014

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

J Child Neurol 2014 Feb 29;29(2):249-53. Epub 2013 Oct 29.

1Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1177/0883073813506936DOI Listing
February 2014

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

J Child Neurol 2013 Dec 5;28(12):1702-8. Epub 2012 Dec 5.

1Department of Child Neuropsychiatry and Neurorehabilitation, "Eugenio Medea" Scientific Institute, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1177/0883073812467849DOI Listing
December 2013

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

J Neurol Neurosurg Psychiatry 2010 Aug;81(8):840-3

Department Child Neuropsychiatry and Neurorehabilitation IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1136/jnnp.2008.163402DOI Listing
August 2010