M. Alessandri

Fondazione Stella Maris — Italy

Engineering · Physical Sciences

24h-index2.3kcitations122works1.32yr avg
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Research Topics

Semiconductor materials and devices(24), Muscle metabolism and nutrition(23), Metabolism and Genetic Disorders(20), Neurotransmitter Receptor Influence on Behavior(11), Parkinson's Disease Mechanisms and Treatments(11)

Publications122 total

Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy
Brain·2025· 1 citedOpen Access
Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update
Seizure·2024· 2 cited
Connectomic and behavioral alterations in creatine transporter deficiency are partially normalized by gene therapy
2024· 1 citedOpen Access
dataset related to article "Clinical, molecular and glycophenotype insights in SLC39A8-CDG"
Zenodo (CERN European Organization for Nuclear Research)·2022Open Access
dataset related to article "Clinical, molecular and glycophenotype insights in SLC39A8-CDG"
2022Open Access
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Orphanet Journal of Rare Diseases·2021· 22 citedOpen Access
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency
Scientific Reports·2020· 18 citedOpen Access
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
BMC Pregnancy and Childbirth·2020· 9 citedOpen Access
Novel translational phenotypes and biomarkers for creatine transporter deficiency
Brain Communications·2020· 19 citedOpen Access
Brain mitochondrial proteome alteration driven by creatine deficiency suggests novel therapeutic venues for creatine deficiency syndromes
Neuroscience·2019· 13 citedOpen Access
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study
Scientific Reports·2019· 22 citedOpen Access
Four years follow up of ACY1 deficient patient and pedigree study
Brain and Development·2018· 10 cited
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Neurogenetics·2018· 26 cited
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
Orphanet Journal of Rare Diseases·2017· 20 citedOpen Access
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging
Human Molecular Genetics·2016· 52 citedOpen Access
A novel mouse model of creatine transporter deficiency
F1000Research·2015· 2 citedOpen Access
Complete data for neurochemical and behavioral assessment in a mouse model of creatine transporter deficiency.
Faculty of 1000 Research Ltd·2015Open Access
A novel mouse model of creatine transporter deficiency
F1000Research·2014· 54 citedOpen Access
Data for neurochemical and behavioral assessment in a mouse model of creatine deficiency
Faculty of 1000 Research Ltd·2014Open Access
Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum
JIMD Reports·2014· 11 citedOpen Access
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Frequent Co-authors

Giovanni Cioni(20), Francesco Fornai(17), Roberta Battini(15), Vincenzo Leuzzi(10), Michela Tosetti(8), Giovanni Corsini(8), Manuela Casarano(8), Maria Cristina Bianchi(6), L Bassi(6), Vera Scalori(6), Laura Baroncelli(6), Tommaso Pizzorusso(6), Marco Gesi(5), Michela Ferrucci(5), Filippo Sean Giorgi(5), Elena Putignano(5), Paola Lenzi(4), Gloria Lazzeri(3), Antonio Paparelli(3), Renzo Guerrini(3)