Chiara Pantaleoni

Chiara Pantaleoni

UNVERIFIED PROFILE

Are you Chiara Pantaleoni?   Register this Author

Register author
Chiara Pantaleoni

Chiara Pantaleoni

Publications by authors named "Chiara Pantaleoni"

Are you Chiara Pantaleoni?   Register this Author

56Publications

1422Reads

25Profile Views

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Am J Med Genet A 2019 Nov 22;179(11):2277-2283. Epub 2019 Aug 22.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61339DOI Listing
November 2019

Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment.

Neuropediatrics 2019 Oct 29;50(5):334-335. Epub 2019 May 29.

Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1691833DOI Listing
October 2019

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Childs Nerv Syst 2019 Oct 30;35(10):1727-1739. Epub 2019 Jul 30.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-019-04319-5DOI Listing
October 2019

Flunarizine and Aspirin for Transient Hemiparesis in Sturge-Weber Syndrome.

Neuropediatrics 2019 Jul 4. Epub 2019 Jul 4.

Neurophysiopathology Department, Fondazione IRCCS Istituto Neurologico "C. Besta," Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1685528DOI Listing
July 2019

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Eur J Med Genet 2018 Dec 4. Epub 2018 Dec 4.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183042
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.12.001DOI Listing
December 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2017221
Publisher Site
http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Outcome measures for children with movement disorders.

Eur J Paediatr Neurol 2018 May 8;22(3):346-353. Epub 2018 Feb 8.

Developmental Neurology Unit, C. Besta Neurological Institute Foundation, Milan, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10903798173169
Publisher Site
http://dx.doi.org/10.1016/j.ejpn.2018.01.014DOI Listing
May 2018

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Mov Disord 2017 11 26;32(11):1646-1647. Epub 2017 Sep 26.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27175DOI Listing
November 2017

ZC4H2 deletions can cause severe phenotype in female carriers.

Am J Med Genet A 2017 May 27;173(5):1358-1363. Epub 2017 Mar 27.

Developmental Neurology Unit, Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38155DOI Listing
May 2017

Vasculogenic and Angiogenic Pathways in Moyamoya Disease.

Curr Med Chem 2016 ;23(4):315-45

Laboratory of Cellular Neurobiology, Neurology Unit, UCV, Neurological Institute "C. Besta" IRCCS Foundation, Via Celoria 11, Milan 20133, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/092986732304160204181543DOI Listing
October 2016

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Eur J Paediatr Neurol 2016 Jan 22;20(1):183-7. Epub 2015 Oct 22.

UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2015.09.010DOI Listing
January 2016

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Neuromuscul Disord 2015 Jan 10;25(1):55-9. Epub 2014 Sep 10.

Neuromuscular Disease and Immunology, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.08.007DOI Listing
January 2015

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Am J Med Genet A 2014 Dec 24;164A(12):3154-61. Epub 2014 Sep 24.

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36746DOI Listing
December 2014

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Hum Mol Genet 2014 Nov 11;23(21):5781-92. Epub 2014 Jun 11.

Department of Pharmacology and Physiology and Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189906PMC
November 2014

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Am J Med Genet A 2013 Dec 24;161A(12):3018-22. Epub 2013 Sep 24.

Unit of Psychology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36142DOI Listing
December 2013

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Eur J Med Genet 2013 Jan 18;56(1):54-8. Epub 2012 Oct 18.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.10.002DOI Listing
January 2013

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Neuromuscul Disord 2012 Dec 21;22(12):1075-82. Epub 2012 Jul 21.

Unit of Neuromuscular Disorders, Rehabilitation and Laboratory of Biochemistry, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966120015
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2012.05.007DOI Listing
December 2012

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.

Am J Med Genet A 2009 Oct;149A(10):2339-45

Developmental Neurology Unit, C Besta Foundation Neurological Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33029
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33029DOI Listing
October 2009

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Am J Med Genet A 2008 Dec;146A(23):3095-9

Laboratory of Genetics, Galliera Hospital, and Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32568DOI Listing
December 2008

Aicardi-Goutières syndrome: description of a late onset case.

Dev Med Child Neurol 2008 Aug;50(8):631-4

Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1469-8749.2008.03033.x
Publisher Site
http://dx.doi.org/10.1111/j.1469-8749.2008.03033.xDOI Listing
August 2008

Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikes.

Epilepsy Res 2008 Mar 21;79(1):31-8. Epub 2008 Feb 21.

Developmental Neurology Division, Istituto Neurologico C. Besta, via Celoria 11, 20133 Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2007.12.016DOI Listing
March 2008

Verbal and gestural communication in children with bilateral perisylvian polymicrogyria.

J Child Neurol 2007 Sep;22(9):1090-8

Developmental Neurology Division, Istituto Nazionale Neurologico, Besta, Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073807306247DOI Listing
September 2007

Sedation of neurologically impaired children undergoing MRI: a sequential approach.

Paediatr Anaesth 2007 Jul;17(7):630-6

Department of Anesthesiology, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1460-9592.2006.02178.xDOI Listing
July 2007

Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case.

J Child Neurol 2007 Jul;22(7):883-6

Paediatric Department, IRCCS Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, University of Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073807304195DOI Listing
July 2007

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes.

Epilepsy Behav 2007 Mar 30;10(2):278-85. Epub 2007 Jan 30.

Developmental Neurology Division, Istituto Nazionale Neurologico C. Besta, Via Celoria 11, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2006.12.003DOI Listing
March 2007

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.

J Child Neurol 2006 Dec;21(12):1084-5

Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/7010.2006.00229DOI Listing
December 2006

Diagnostic approach to cerebellar disease in children.

J Child Neurol 2005 Nov;20(11):859-66

Department of Pediatric Neurology, Istituto Neurologico C. Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/08830738050200110101DOI Listing
November 2005

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Pediatr Neurol 2005 May;32(5):355-7

Pediatric Department, Istituti Clinici di Perfezionamento, University of Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2004.12.012DOI Listing
May 2005

Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification.

Brain Dev 2004 Jun;26(4):273-80

Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C Besta, Via Celoria 11, I-20133 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0387-7604(03)00130-XDOI Listing
June 2004

Oligoyric microcephaly in a child with Williams syndrome.

Am J Med Genet A 2003 Mar;117A(2):169-71

Department of Pediatric Neurology, Besta Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10892DOI Listing
March 2003