Publications by authors named "Elena Cellini"

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Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With Encephalopathy.
Serena Galosi, Luca Pollini, Francesca Nardecchia, Elena Cellini, Renzo Guerrini

Mov Disord Clin Pract· September 2022

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Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.
Francesco Miceli, Renzo Guerrini, Mario Nappi, Maria Virginia Soldovieri, Elena Cellini

Epilepsia· January 2022

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Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Elena Cellini

Genes (Basel)· June 2021

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Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.
Claudia Ciaccio, Elena Cellini, Renzo Guerrini, Chiara Pantaleoni, Riccardo Masson

Am J Med Genet A· November 2020

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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Elena Cellini, Annalisa Vetro, Valerio Conti, Carla Marini, Viola Doccini

Eur J Hum Genet· June 2019

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Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica

Epilepsia· April 2019

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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Amanda Rogers, Paul Golumbek, Elena Cellini, Viola Doccini, Renzo Guerrini

Am J Med Genet A· August 2018

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Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment.
Patrizia Accorsi, Elena Cellini, Claudia Di Paolantonio, Gianvito Panzarino, Alberto Verrotti

Clin Neurol Neurosurg· December 2017

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Clinical features and outcome of 6 new patients carrying de novo gene mutations.
Carla Marini, Michele Romoli, Elena Parrini, Cinzia Costa, Davide Mei, Elena Cellini

Neurol Genet· December 2017

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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini

Am J Med Genet A· April 2017

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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini

Hum Mutat· February 2017

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The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
Elena Cellini, Aglaia Vignoli, Tiziana Pisano, Melania Falchi, Anna Molinaro

Dev Med Child Neurol· January 2016

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Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.
Anna Rosati, Beatrice Berti, Federico Melani, Elena Cellini, Elena Procopio

Dev Med Child Neurol· August 2015

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Low social interactions in eating disorder patients in childhood and adulthood: a multi-centre European case control study.
Isabel Krug, Eva Penelo, Fernando Fernandez-Aranda, Marija Anderluh, Laura Bellodi, Elena Cellini

J Health Psychol· January 2013

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Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa.
Timo D Müller, Brandon H Greene, Laura Bellodi, Maria C Cavallini, Elena Cellini

Obes Facts· November 2012

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Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
Elena Cellini, Vittoria Disciglio, Francesca Novara, James A Barkovich, Maria Antonietta Mencarelli

Am J Med Genet A· July 2012

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Factors of risk and maintenance for eating disorders: psychometric exploration of the cross-cultural questionnaire (CCQ) across five European countries.
Eva Penelo, Roser Granero, Isabel Krug, Janet Treasure, Andreas Karwautz, Elena Cellini

Clin Psychol Psychother· April 2012

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Membrane cholesterol enrichment prevents Aβ-induced oxidative stress in Alzheimer's fibroblasts.
Anna Pensalfini, Mariagioia Zampagni, Gianfranco Liguri, Matteo Becatti, Elisa Evangelisti, Elena Cellini

Neurobiol Aging· February 2011

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Meta-analysis of the association between variants in SORL1 and Alzheimer disease.
Christiane Reitz, Rong Cheng, Ekaterina Rogaeva, Joseph H Lee, Shinya Tokuhiro, Elena Cellini

Arch Neurol· January 2011

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Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity.
Elena Cellini, Giovanni Castellini, Valdo Ricca, Silvia Bagnoli, Andrea Tedde

Psychiatr Genet· December 2010

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Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.
Renzo Guerrini, Elena Cellini, Davide Mei, Tiziana Metitieri, Cristina Petrelli

Epilepsia· December 2010

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Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease.
Mònica Gratacòs, Geòrgia Escaramís, Mariona Bustamante, Ester Saus, Zaida Agüera, Elena Cellini

J Psychiatr Res· October 2010

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Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease.
Benedetta Nacmias, Andrea Tedde, Silvia Bagnoli, Ersilia Lucenteforte, Elena Cellini

J Alzheimers Dis· July 2010

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Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population.
Michele Mishto, Elena Bellavista, Claudia Ligorio, Kathrin Textoris-Taube, Aurelia Santoro, Elena Cellini

PLoS One· February 2010

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Implication of sex and SORL1 variants in italian patients with Alzheimer disease.
Elena Cellini, Andrea Tedde, Silvia Bagnoli, Silvia Pradella, Silvia Piacentini

Arch Neurol· October 2009

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