Elena Cellini

Elena Cellini

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Elena Cellini

Elena Cellini

Publications by authors named "Elena Cellini"

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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 Jun 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777581PMC
June 2019

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Am J Med Genet A 2018 08 28;176(8):1748-1752. Epub 2018 Jul 28.

Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.38840DOI Listing
August 2018

Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.

Clin Neurol Neurosurg 2017 12 23;163:90-93. Epub 2017 Oct 23.

Child Neurology and Psychiatry Unit, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clineuro.2017.10.019DOI Listing
December 2017

Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Neurol Genet 2017 Dec 11;3(6):e206. Epub 2017 Dec 11.

Pediatric Neurology Unit (C.M., E.P., D.M., F.M., T.M., E.C., S.V., D.D.V., R.G.), Neurogenetics and Neurobiology Laboratories, Neuroscience Department, A. Meyer Pediatric Hospital, University of Florence; Neurology Unit (M.R., C.C., P.C.), Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia; Child Neurology Service (L.P.), Hospital of Bolzano; Metabolic Unit (E.P.), A. Meyer Pediatric Hospital, Florence; Medical Genetics Unit (M.G.), Azienda Sanitaria Locale Bari; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia; Department of Experimental Neurosciences (P.C.), "Istituto di Ricovero e Cura a Carattere Scientifico," IRCCS Santa Lucia Foundation, Rome; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733250PMC
December 2017

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Hum Mutat 2017 02 9;38(2):216-225. Epub 2016 Dec 9.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/humu.23149DOI Listing
February 2017

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

Dev Med Child Neurol 2016 Jan 6;58(1):93-7. Epub 2015 Sep 6.

Pediatric Neurology Unit, Children's Hospital A Meyer -University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/dmcn.12894DOI Listing
January 2016

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

Dev Med Child Neurol 2015 Aug 20;57(8):777-9. Epub 2014 Nov 20.

Pediatric Neurology Unit, Children's Hospital A. Meyer, University of Firenze, Firenze, Italy.

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http://dx.doi.org/10.1111/dmcn.12644DOI Listing
August 2015

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Am J Med Genet A 2012 Jul 7;158A(7):1793-7. Epub 2012 Jun 7.

Child Neurology Unit, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35416DOI Listing
July 2012

Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity.

Psychiatr Genet 2010 Dec;20(6):282-8

Department of Neurological and Psychiatric Sciences, Neurology Unit, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1097/YPG.0b013e32833a2142DOI Listing
December 2010

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.

Epilepsia 2010 Dec 18;51(12):2474-7. Epub 2010 Nov 18.

Child Neurology Unit, Children's Hospital A. Meyer - University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02790.xDOI Listing
December 2010

Implication of sex and SORL1 variants in italian patients with Alzheimer disease.

Arch Neurol 2009 Oct;66(10):1260-6

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1001/archneurol.2009.101DOI Listing
October 2009

Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease.

J Alzheimers Dis 2009 ;16(3):513-5

Department of Neurological and Psychiatric Sciences, University of Florence and Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Firenze, Italy.

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http://dx.doi.org/10.3233/JAD-2009-1005DOI Listing
May 2009

Lack of association between TNF-alpha polymorphisms and Alzheimer's disease in an Italian cohort.

Neurosci Lett 2008 Dec;446(2-3):139-42

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini, 6-50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.neulet.2008.09.044DOI Listing
December 2008

Present and lifetime comorbidity of tobacco, alcohol and drug use in eating disorders: a European multicenter study.

Drug Alcohol Depend 2008 Sep 20;97(1-2):169-79. Epub 2008 Jun 20.

Department of Psychiatry, Bellvitge University Hospital, Barcelona and Ciber Fisiopatologia de la Obesidad y Nutricion (CIBERobn), Instituto Salud Carlos III, Spain.

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http://dx.doi.org/10.1016/j.drugalcdep.2008.04.015DOI Listing
September 2008

KIBRA gene variants are associated with episodic memory performance in subjective memory complaints.

Neurosci Lett 2008 May 7;436(2):145-7. Epub 2008 Mar 7.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85-50134 Florence, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S030439400800289
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http://dx.doi.org/10.1016/j.neulet.2008.03.008DOI Listing
May 2008

Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease.

Am J Med Genet B Neuropsychiatr Genet 2008 Jan;147B(1):117-9

Department of Neurological and Psychiatric Sciences, Center for Research, Transfer and High Education on Chronic, Inflammatory, Degenerative and Neoplastic Disorders for the Development of Novel Therapies (DENOThe), University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.b.30573DOI Listing
January 2008

No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy.

Cell Mol Neurobiol 2007 Nov 11;27(7):877-81. Epub 2007 Sep 11.

Neurogenetics Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, Florence 50139, Italy.

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http://dx.doi.org/10.1007/s10571-007-9207-4DOI Listing
November 2007

Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity.

Arch Gerontol Geriatr 2007 Sep-Oct;45(2):201-6. Epub 2006 Dec 19.

Department of Neurological and Psychiatric Sciences, University of Florence, Florence and Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Viale Morgagni, 85, 50134 Firenze, Italy.

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http://dx.doi.org/10.1016/j.archger.2006.10.011DOI Listing
October 2007

Association of IL10 promoter polymorphism in Italian Alzheimer's disease.

Neurosci Lett 2007 May 19;418(3):262-5. Epub 2007 Mar 19.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini, 6-50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.neulet.2007.03.030DOI Listing
May 2007

Association analysis of the paraoxonase-1 gene with Alzheimer's disease.

Neurosci Lett 2006 Nov 25;408(3):199-202. Epub 2006 Sep 25.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.neulet.2006.08.074DOI Listing
November 2006

Fragile X premutation with atypical symptoms at onset.

Arch Neurol 2006 Aug;63(8):1135-8

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.

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http://dx.doi.org/10.1001/archneur.63.8.1135DOI Listing
August 2006

Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.

Neurobiol Aging 2006 May 1;27(5):773.e1-773.e3. Epub 2005 Aug 1.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini, 6 50139 Florence, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2005.03.029DOI Listing
May 2006

Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.

Neurosci Lett 2006 Jan 26;392(1-2):110-3. Epub 2005 Sep 26.

Department of Neurological and Psychiatric Sciences, Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Viale Pieraccini 6, Italy.

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http://dx.doi.org/10.1016/j.neulet.2005.09.006DOI Listing
January 2006

Cholesteryl ester transfer protein (CETP) I405V polymorphism and longevity in Italian centenarians.

Mech Ageing Dev 2005 Jun-Jul;126(6-7):826-8

Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1016/j.mad.2005.01.009DOI Listing
September 2005

Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease.

Neurosci Lett 2004 Sep;367(3):379-83

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, 50129, Italy.

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http://dx.doi.org/10.1016/j.neulet.2004.06.039DOI Listing
September 2004

A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.

Arch Neurol 2002 Dec;59(12):1952-3

Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1001/archneur.59.12.1952DOI Listing
December 2002

Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.

Neurosci Lett 2002 Aug;328(3):273-6

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134, Florence, Italy.

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http://dx.doi.org/10.1016/s0304-3940(02)00547-5DOI Listing
August 2002

5-HT2A receptor gene polymorphism and eating disorders.

Neurosci Lett 2002 Apr;323(2):105-8

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni, 85, 50134 Florence, Italy.

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http://dx.doi.org/10.1016/s0304-3940(02)00088-5DOI Listing
April 2002