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Elena Cellini

University of Florence

86

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2282

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Diagnostic implications of genetic copy number variation in epilepsy plus.

2019 Epilepsia
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Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects

2017 American Journal of Medical Genetics Part A
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Pyridoxine responsiveness in pyridox(am)ine-5-phosphate oxidase deficiency: The importance of early treatment

2017 Clinical Neurology and Neurosurgery
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The hyperkinetic movement disorder of FOXG1-related epileptic–dyskinetic encephalopathy

2016 Developmental Medicine & Child Neurology
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SYSTEMATIC LARGE SCALE GENOME-WIDE ANALYSIS OF CNVS IN PATIENTS WITH EPILEPSY PLUS

2016
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Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

2015 Developmental Medicine & Child Neurology
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Low social interactions in eating disorder patients in childhood and adulthood: A multi-centre European case control study:

2013 Journal of Health Psychology
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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

2012 Obesity Facts
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Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

2012 American Journal of Medical Genetics Part A
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Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease

2011 JAMA Neurology
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Citations (148)