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Mostrati risultati da 1 a 20 di 93
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells 2024 Laura MorbiatoMaria Andrea DesbatsEva TrevissonLeonardo Salviati + MOLECULAR CELL - -
Ambra1 deficiency impairs mitophagy in skeletal muscle 2022 Gambarotto, LisaMetti, SamueleChrisam, MartinaCerqua, CristinaArmani, AndreaSpizzotin, MariannaCastagnaro, SilviaGrumati, PaoloCescon, MatildeBraghetta, PaolaTrevisson, EvaCecconi, FrancescoBonaldo, Paolo + JOURNAL OF CACHEXIA, SARCOPENIA AND MUSCLE - -
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation 2022 Denis Vecellio ReaneCristina CerquaLeonardo SalviatiEva TrevissonAnna Raffaello + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 2022 Trevisson E. + GENETICS IN MEDICINE - -
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study 2022 Cosmo E.Frizziero L.Miglionico G.De Biasi C. S.Trevisson E.Gabbiato I.Midena G.Parrozzani R. + CANCERS - -
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients 2021 Sorrentino U.Bellonzi S.Brasson V.Toldo I.Parrozzani R.Cassina M.Trevisson E. + CANCERS - -
Integrated cgh/wes analyses advance understanding of aggressive neuroblastoma evolution: A case study 2021 Corallo D.Zin A.Francescato S.Rossi B.Trevisson E.Pinato C.Biffi A.Aveic S. + CELLS - -
Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations 2021 Trevisson E. + FREE RADICAL BIOLOGY & MEDICINE - -
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants 2021 Morbidoni V.Baschiera E.Fumini V.Desbats M. A.Cassina M.Salviati L.Trevisson E. + CANCERS - -
Mutations in Assembly Factors Required for the Biogenesis of Mitochondrial Respiratory Chain 2021 Lisa BusonEva Trevisson + - - Mitochondrial Diseases Theory, Diagnosis and Therapy
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation 2021 Trevisson E. + GENETICS IN MEDICINE - -
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study 2021 Pilotto, ElisabettaTrevisson, EvaNacci, Elisabetta BeatriceLonghin, EvelynMidena, Edoardo + EUROPEAN JOURNAL OF OPHTHALMOLOGY - -
Coenzyme Q Biosynthesis Disorders 2021 Trevisson, Eva + - - Mitochondrial Diseases Theory, Diagnosis and Therapy
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature 2021 Sorrentino, UPiccolo, CRigon, CBrasson, VTrevisson, EMartini, ACassina, M + AUDIOLOGY RESEARCH - -
Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement 2020 Bottesi G.Spoto A.Trevisson E.Vidotto G.Cassina M.Clementi M. + BRITISH JOURNAL OF DERMATOLOGY - -
Wilms tumor in patients with osteopathia striata with cranial sclerosis 2020 Sperotto F.Trevisson E. + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Age and sex prevalence estimate of Joubert syndrome in Italy. 2020 Bertini ENardella MRomaniello RZanni GValente EMMaria Cristina DigilioEmanuele MicaglioMargherita NosadiniPasquale ParisiLeonardo SalviatiMarco SeriAlessandro SimonatiEva Trevisson + NEUROLOGY - -
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 2020 Morbidoni V.Cassina M.Salviati L.Trevisson E. + JOURNAL OF MEDICAL GENETICS - -
Retinal Vascular Abnormalities related to Neurofibromatosis Type 1: Natural History and Classification by OCT Angiography in 473 Patients 2020 Parrozzani, RaffaeleFrizziero, LuisaTrainiti, SaraCalciati, AndreaLondei, DavideMiglionico, GiacomoTrevisson, EvaPilotto, ElisabettaMidena, Edoardo + RETINA - -
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 2020 Trevisson E. + HUMAN MUTATION - -
Mostrati risultati da 1 a 20 di 93
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