Publications by authors named "Marta Romani"

24Publications

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

J Pediatr Neurosci 2019 Apr-Jun;14(2):90-93

Division of Pediatric Neurology, Department of Pediatrics, Lady Harding Medical College, New Delhi, India.

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September 2019

encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Neurol Genet 2017 Apr 21;3(2):e143. Epub 2017 Mar 21.

Department of Paediatrics, Child Neurology and Psychiatry (F.R.D., S.G., V.L.), Sapienza University of Rome, Italy; Molecular Neurosciences, Developmental Neurosciences Programme (F.R.D., J.N., A.M., M.A.K.), University College London Institute of Child Health, UK; Department of Neurology (F.R.D., J.N., A.M., M.A.K.), Great Ormond Street Hospital for Children, London, UK; GENOMA Group (M.R.), Molecular Genetics Laboratory, Rome, Italy; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (M.M., E.P., C.B., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Italy; Department of Haematology (K.J.C.), University of Cambridge, NHS Blood and Transplant Centre, UK; NIHR Bioresource Rare Diseases (K.J.C., F.L.R.), University of Cambridge, UK; Department of Neurology (N.M.), Westmead Hospital, Sydney, Australia; Childrens Hospital Oxford (T.M.), John Radcliffe Hospital, UK; Institute for Neuroscience and Muscle Research (R.C.D., S.S.M., U.S.), the Children's Hospital at Westmead, University of Sydney, Australia; Department of Medical Genetics (F.L.R.), Cambridge Institute for Medical Research, University of Cambridge, UK; Department of Neurology (R.S.), University Hospitals Leicester NHS Trust, UK; Department of Paediatric Neurology (G.V.), Leeds Teaching Hospitals NHS Trust, UK; Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Italy; and Neurogenetics Unit (E.M.V.), IRCCS Fondazione Santa Lucia, Rome, Italy.

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April 2017

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Neurogenetics 2016 07 2;17(3):191-5. Epub 2016 Jun 2.

Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Via Salvador Allende, 84081, Baronissi, Salerno, Italy.

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July 2016

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Neurol Genet 2016 Apr 3;2(2):e61. Epub 2016 Mar 3.

CSS-Mendel Institute (M.R., T.M., E.M.V.), IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Division of Immunology (C.M.), Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA; Institut Jérôme Lejeune (A.M.), Paris, France; and Section of Neurosciences (E.M.V.), Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

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April 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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December 2015

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Lancet Neurol 2013 Sep 17;12(9):894-905. Epub 2013 Jul 17.

Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address:

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September 2013

A solid quality-control analysis of AB SOLiD short-read sequencing data.

Brief Bioinform 2013 Nov 9;14(6):684-95. Epub 2012 Aug 9.

IRCCS Casa Sollievo della Sofferenza, Mendel. Tel.: +39 0644160526; Fax: +39 0644160538;

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November 2013

C/EBPγ regulates wound repair and EGF receptor signaling.

J Invest Dermatol 2012 Jul 22;132(7):1908-17. Epub 2012 Mar 22.

Laboratorio di Patologia Vascolare, Istituto Dermopatico dell'Immacolata-IRCCS, Rome, Italy.

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July 2012