S. Marchet

发表

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Journal of clinical medicine.

Nitric oxide regulates homeoprotein OTX1 and OTX2 expression in the rat myenteric plexus after intestinal ischemia-reperfusion injury.

A. Moriondo, D. Negrini, I. Zucchi, 2017, American journal of physiology. Gastrointestinal and liver physiology.

The monoclonal anti-BCL10 antibody (clone 331.1) is a sensitive and specific marker of pancreatic acinar cell carcinoma and pancreatic metaplasia

D. Vigetti, M. Clerici, F. Sessa, 2009, Virchows Archiv.

Localization of Inhibins and Activins in Normal Endocrine Cells and Endocrine Tumors of the Gut and Pancreas: an Immunohistochemical and In Situ Hybridization Study

R. Lloyd, C. Capella, S. La Rosa, 2004, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2017 .

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2014, American journal of human genetics.

Characterization of C-Kit (CD117) Expression in Human Normal Pituitary Cells and Pituitary Adenomas

D. Vigetti, C. Capella, S. La Rosa, 2008, Endocrine pathology.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

V. Tiranti, O. Sibon, C. Lamperti, 2013, Brain : a journal of neurology.

Primary mitochondrial myopathy

G. Comi, M. Mancuso, G. Siciliano, 2020, Neurology: Genetics.

Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy

E. Bertini, R. Carrozzo, A. D’Amico, 2019, Human mutation.

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

C. La Morgia, E. Lamantea, V. Carelli, 2021, Frontiers in Neurology.

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

M. Zeviani, C. Lamperti, C. Viscomi, 2017, Gene Therapy.

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

M. Zeviani, J. Holton, E. Lamantea, 2020, Neurology: Genetics.

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

M. Zeviani, C. Lamperti, C. Viscomi, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

M. Mancuso, G. Siciliano, P. Tonin, 2022, Journal of Neurology.

Response to: “Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number”

D. Ghezzi, C. Lamperti, A. Legati, 2020, Human mutation.

MGMT methylation in diffuse large B-cell lymphoma: validation of quantitative methylation-specific PCR and comparison with MGMT protein expression

R. Cerutti, C. Capella, I. Proserpio, 2009, Journal of Clinical Pathology.

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

D. Ghezzi, C. Lamperti, Alessia Catania, 2019, American journal of medical genetics. Part A.

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice

M. Provinciali, E. Nisoli, C. Lamperti, 2020, Frontiers in Pharmacology.

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

L. Scorrano, M. Zeviani, T. Varanita, 2015, Cell metabolism.

Transcription Factor EB Controls Metabolic Flexibility during Exercise

A. Ballabio, M. Zeviani, P. Saha, 2017, Cell metabolism.

Role of neuronal and inducible nitric oxide synthases in the guinea pig ileum myenteric plexus during in vitro ischemia and reperfusion

D. Vigetti, S. Lecchini, C. Giaroni, 2013, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Protein kinase c modulates NMDA receptors in the myenteric plexus of the guinea pig ileum during in vitro ischemia and reperfusion

D. Giuliani, P. Borroni, S. Lecchini, 2011, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Gastrointestinal stromal tumors--frequency, malignancy, and new prognostic factors: the experience of a single institution.

C. Klersy, L. Boni, C. Capella, 2008, Pathology, research and practice.

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

M. Zeviani, A. Reyes, A. Robinson, 2017, Journal of Medical Genetics.

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

E. Schon, J. Auwerx, M. Zeviani, 2014, Cell metabolism.

Interaction between NMDA glutamatergic and nitrergic enteric pathways during in vitro ischemia and reperfusion.

S. Lecchini, C. Giaroni, F. Crema, 2015, European journal of pharmacology.

Bcl-6 protein expression, and not the germinal centre immunophenotype, predicts favourable prognosis in a series of primary nodal diffuse large B-cell lymphomas: A single centre experience

C. Capella, R. Novario, C. Chini, 2008, Leukemia & lymphoma.

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

E. Lamantea, D. Ghezzi, C. Lamperti, 2020, Human mutation.

Antagonism of Ionotropic Glutamate Receptors Attenuates Chemical Ischemia-Induced Injury in Rat Primary Cultured Myenteric Ganglia

Elisabetta Moro, Cristina Giaroni, P. Moretto, 2014, PloS one.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

M. Zeviani, E. Lamantea, L. Morandi, 2016, Molecular genetics and metabolism reports.

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Journal of Neurology.

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

V. Tiranti, E. Lamantea, F. Blàsevich, 2019, Mitochondrion.

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.

V. Tiranti, I. Di Meo, S. Marchet, 2022, Journal of Visualized Experiments.

Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy

E. Bertini, R. Carrozzo, A. D’Amico, 2019, Human mutation.

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

H. Prokisch, E. Lamantea, D. Ghezzi, 2023, International journal of molecular sciences.

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

E. Lamantea, C. Lamperti, Alessia Catania, 2024, Orphanet journal of rare diseases.