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Metabolites|October 30, 2019
Sphingolipid Metabolism Perturbations in Rett SyndromeGerarda Cappuccio, Taraka Donti, Michele Pinelli, et al.
Cells|July 12, 2024
Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal EffectAlessandro De Falco, Antonella Gambale, Michele Pinelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 20, 2020
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathyGaetano Terrone, Michele Pinelli, Pia Bernardo, et al.
Journal of Nephrology|October 26, 2019
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019Ivana Capuano, Carlo Garofalo, Pasquale Buonanno, et al.
American Journal of Medical Genetics. Part A|August 3, 2017
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlationGerarda Cappuccio, Michele Pinelli, Annalaura Torella, et al.
Cerebellum (London, England)|June 27, 2008
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expressionFabio Acquaviva, Imma Castaldo, Alessandro Filla, et al.
BMC Genomics|April 18, 2023
Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome dataKarla Alejandra Ruiz-Ceja, Dalila Capasso, Michele Pinelli, et al.
Cerebellum (London, England)|August 15, 2019
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)Claudia Ciaccio, Raffaele Castello, Silvia Esposito, et al.
BMC Medical Genetics|December 8, 2006
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitusMichele Pinelli, Manuela Giacchetti, Fabio Acquaviva, et al.
Cardiovascular Diabetology|October 30, 2010
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patientsEmanuela Lapice, Michele Pinelli, Elisabetta Pisu, et al.
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