Maria Margherita Mancardi

Author

Also Known As

M Mancardi, M. M. Mancardi, M. Mancardi, M.M. Mancardi, Mancardi MM, Mancardi, Maria Margherita, Margherita M. Mancardi, Margherita Mancardi, Maria M Mancardi, Maria M. MANCARDI

188

Publications

3.7K

Citations

H-Index

123

Concepts

All Affiliations

Istituto Giannina Gaslini Istituti di Ricovero e Cura a Carattere Scientifico University of Genoa University of Pavia Bambino Gesù Children's Hospital

About

Maria Margherita Mancardi is an author at Istituto Giannina Gaslini specializing in medicine, neurology, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	18	33	1.2K
2	Social Sciences	12	14	368
3	Health Sciences	2	2	44
4	Arts	1	1	12
5	Public Health	1	1	58

Maria Margherita Mancardi

Publications

Citations

H-Index

Page 1

	Year	Citations
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Nature Genetics	2014	582
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, The American Journal of Human Genetics Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder	2019	298
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond Carla Marini, Alessandro Porro, Agnès Rastetter, Brain	2018	134
<i>TBC1D24</i> genotype–phenotype correlation Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Neurology	2016	126
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy Pasquale Striano, Antonietta Coppola, Marianna Pezzella, Neurology	2007	117
<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Brain Neurobiology Of DiseaseEpilepsy ImprovementKcnt1 ProteinNeurophysiologyHyperpolarization (Biology)	2021	93
Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, Epilepsia	2007	92
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Epilepsia	2019	92
Gluten Psychosis: Confirmation of a New Clinical Entity Elena Lionetti, Salvatore Leonardi, Chiara Franzonello, Nutrients	2015	70
RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability M. G. Baglietto, Gianluca Caridi, Giorgio Gimelli, European Journal of Medical Genetics Molecular NeuroscienceGenetic DisorderGeneticsPsychiatric GeneticsClinical Genetics	2013	64

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