Enrico Bertini mostly deals with Genetics, Mutation, Pathology, Internal medicine and Endocrinology. His Genetics study frequently draws connections to adjacent fields such as Congenital myopathy. The study incorporates disciplines such as Molecular biology, Muscular dystrophy, Mitochondrial DNA and Age of onset in addition to Mutation.
His Pathology study incorporates themes from Phenotype, Respiratory chain and Muscle weakness. His Internal medicine research incorporates elements of Gastroenterology and Mitochondrion. His study on Endocrinology also encompasses disciplines like
The scientist’s investigation covers issues in Genetics, Pathology, Internal medicine, Mutation and Pediatrics. His study in Genetics concentrates on Gene, Missense mutation, Phenotype, Allele and Exon. The concepts of his Pathology study are interwoven with issues in Ataxia, Muscular dystrophy and Muscle weakness.
His studies deal with areas such as Gastroenterology, Endocrinology and Cardiology as well as Internal medicine. As part of his studies on Mutation, Enrico Bertini often connects relevant subjects like Molecular biology. His work deals with themes such as Cohort and Epilepsy, which intersect with Pediatrics.
Enrico Bertini focuses on Ataxia, Pediatrics, Internal medicine, Cohort and Cell biology. In Ataxia, Enrico Bertini works on issues like Phenotype, which are connected to Genotype. Genotype is the subject of his research, which falls under Genetics.
His Pediatrics study combines topics from a wide range of disciplines, such as Dystonia, Ambulatory and Epilepsy. Enrico Bertini combines subjects such as Endocrinology and Cardiology with his study of Internal medicine. His Cohort research incorporates themes from Spinal muscular atrophy, SMA*, Cohort study and Age of onset.
Enrico Bertini mainly investigates Cell biology, Cohort, Ataxia, Pediatrics and Mitochondrion. His Cell biology study combines topics from a wide range of disciplines, such as Oxidative stress, Ex vivo, Knockout mouse and Mitochondrial translation. His studies deal with areas such as Spinal muscular atrophy, Movement disorders, Cohort study and Age of onset as well as Cohort.
His Cerebellar ataxia and Early Onset Cerebellar Ataxia study in the realm of Ataxia connects with subjects such as Frataxin and Large group. His work is dedicated to discovering how Pediatrics, Dystonia are connected with Disease, Chorea, Childhood early, Mutation and Natural history and other disciplines. His research on Molecular genetics concerns the broader Genetics.
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Analysis of glutathione: implication in redox and detoxification.
Anna Pastore;Giorgio Federici;Enrico Bertini;Fiorella Piemonte.
Clinica Chimica Acta (2003)
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang;Richard S. Finkel;Enrico S. Bertini;Mary Schroth.
Journal of Child Neurology (2007)
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
Massimo Zeviani;Serenella Servidei;Cinzia Gellera;Enrico Bertini.
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette.
Nature Genetics (2009)
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner.
Nature Genetics (2006)
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I. Rice;Paul R. Kasher;Gabriella M A Forte;Niamh M. Mannion.
Nature Genetics (2012)
Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency
Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti.
American Journal of Human Genetics (1998)
Empirical Studies in Information Visualization: Seven Scenarios
H. Lam;E. Bertini;P. Isenberg;C. Plaisant.
IEEE Transactions on Visualization and Computer Graphics (2012)
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V Morgan;Shawn K Westaway;Jenny E V Morton;Allison Gregory.
Nature Genetics (2006)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Eugenio Mercuri;Richard S Finkel;Francesco Muntoni;Brunhilde Wirth.
Neuromuscular Disorders (2017)
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