Manuela Casarano - Concepedia

Author

Manuela Casarano

Fondazione Stella Maris

Also Known As

M. Casarano, Manuela Casarano

Publications

908

Citations

H-Index

Concepts

All Affiliations

Fondazione Stella Maris University of Pisa Sapienza University of Rome Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini

About

Manuela Casarano is an author at Fondazione Stella Maris specializing in medicine, pediatrics, and rehabilitation.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	124
2	Biochemistry	2	2	44
3	Education	1	1	28
4	Health Sciences	1	1	13
5	Natural Sciences	1	1	23

Manuela Casarano

Publications

890

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
Treatment with<scp>l</scp>-Arginine improves neuropsychological disorders in a child with Creatine transporter defect Anna Maria Chilosi, Vincenzo Leuzzi, Roberta Battini, Neurocase	2008	49
Cognitive, adaptive, and behavioral features in Joubert syndrome Sara Bulgheroni, Stefano D’Arrigo, Sabrina Signorini, American Journal of Medical Genetics Part A	2016	34
Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases Giorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström, Neuropediatrics	2012	31
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (<i>SLC6A8</i>) mutation Roberta Battini, Anna Maria Chilosi, Davide Mei, American Journal of Medical Genetics Part A Creatine TransporterNeurological DisorderAtypical Language DevelopmentEducationDevelopmental Speech	2007	28
Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene Roberta Battini, Anna Maria Chilosi, Manuela Casarano, Molecular Genetics and Metabolism Intellectual ImpairmentLanguage DisorderGenetic DisorderGeneticsDevelopmental Language Disorder	2010	26
Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts Vincenzo Leuzzi, M. Alessandri, Manuela Casarano, Analytical Biochemistry Molecular PhysiologySignal TransductionBiochemistryNatural SciencesPhysiology	2008	23
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency Anna Maria Chilosi, Manuela Casarano, A Comparini, Orphanet Journal of Rare Diseases	2012	22
Gas chromatography/mass spectrometry assay for arginine: Glycine–amidinotransferase deficiency M. Alessandri, Lisa Celati, Roberta Battini, Analytical Biochemistry BiochemistryBioanalysisMass SpectrometryMedicineGas Chromatography/mass Spectrometry	2005	21
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency Roberta Battini, M. Alessandri, Claudia Casalini, Orphanet Journal of Rare Diseases	2017	20

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