LAMPERTI, COSTANZA

LAMPERTI, COSTANZA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients 2023 Ardissone A.Ferrera G.Lamperti C.Ghezzi D.Lamantea E. + Article (author) -
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 2023 Lamantea E.Peverelli L.Magri F.Comi G. P.Ronchi D.Ghezzi D.Lamperti C. + Article (author) -
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort 2022 Comi, G PLamperti, CMeneri, M + Article (author) -
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement 2022 Lamperti, CostanzaGhezzi, Daniele + Article (author) -
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions 2022 Nasca A.Meneri M.Comi G. P.Catania A.Lamperti C.Ronchi D.Ghezzi D. + Article (author) -
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases 2021 Ghezzi D.Lamantea E.Lamperti C. + Article (author) -
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 2021 Nasca A.Lamantea E.Lamperti C.Ghezzi D. + Article (author) -
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy 2021 Ghezzi, DanieleLamperti, Costanza + Article (author) -
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 2021 Nasca A.Lamperti C.Ghezzi D. + Article (author) -
Current and new next-generation sequencing approaches to study mitochondrial DNA 2021 Nasca A.Lamperti C.Lamantea E.Ghezzi D. + Article (author) -
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 2021 Peverelli L.Lamantea E.Ghezzi D.Lamperti C. + Article (author) -
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy 2020 Comi, Giacomo PietroLamperti, CostanzaMeneri, Megi + Article (author) -
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions 2020 Di Meo I.Lamantea E.Lamperti C.Ghezzi D. + Article (author) -
Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies 2020 Costanza LampertiNicola PersicoDario Brunetti + Article (author) -
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients 2019 Lamperti, CostanzaComi, Giacomo PietroRonchi, Dario + Article (author) -
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment 2019 Peverelli, LorenzoNANETTI, LORENZOLamperti, CostanzaGhezzi, Daniele + Article (author) -
New missense variants of NDUFA11 associated with late-onset myopathy 2019 Peverelli L.Lerario A.Galimberti V.Ghezzi D.Lamperti C. + Article (author) -
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 2019 Lamperti, CostanzaGhezzi, Daniele + Article (author) -
Muscle pain in mitochondrial diseases: a picture from the Italian network 2019 Lamperti, CostanzaComi, Giacomo Pietro + Article (author) -
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E) 2019 Peverelli, LorenzoTabano, SilviaGhezzi, DanieleLamperti, Costanza + Article (author) -