C. Garone

发表

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

S. Carr, V. Mootha, S. Dimauro, 2012 .

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.

T. Akay, S. Homma, F. Sera, 2014, The Journal of clinical investigation.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder

S. Sanna-Cherchi, M. Hirano, C. Garone, 2017, Journal of child neurology.

mtDNA maintenance: disease and therapy

C. Garone, C. Quadalti, Corinne Quadalti, 2020 .

Towards a therapy for mitochondrial disease: an update

C. Viscomi, C. Garone, 2018, Biochemical Society transactions.

T. Pippucci, A. Verrotti, C. Graziano, 2011, Developmental medicine and child neurology.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Y. Crow, D. Mitra, B. Bernardi, 2010, Developmental medicine and child neurology.

Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): An open-label, parallel group trial

A. Verrotti, F. Operto, C. Garone, 2007, Brain and Development.

Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.

M. Dotti, A. Accarino, R. De Giorgio, 2021, American journal of physiology. Gastrointestinal and liver physiology.

Tissue‐specific oxidative stress and loss of mitochondria in CoQ‐deficient Pdss2 mutant mice

V. Emmanuele, M. Hirano, C. Garone, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

M. Hirano, C. Garone, C. Quinzii, 2012, Biochimica et biophysica acta.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

V. Mootha, B. Paw, S. Dimauro, 2013, American journal of human genetics.

Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted

D. Jaffe, V. Mootha, S. Dimauro, 2012 .

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

L. Van Haute, M. Minczuk, E. Miska, 2019, bioRxiv.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

B. Bax, C. Garone, N. Nirmalananthan, 2018, Front. Genet..

From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases

C. Garone, A. Pietra, S. Nesci, 2022, Life.

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

M. Zeviani, A. Reyes, C. Bruno, 2019, Molecular genetics and metabolism.

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

S. Dimauro, A. Elkahloun, P. Houillier, 2013, Proceedings of the National Academy of Sciences.

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

M. Minczuk, P. Chinnery, K. Majamaa, 2017, Brain : a journal of neurology.

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

V. Mootha, S. Dimauro, C. Bruno, 2013, JAMA neurology.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

V. Mootha, Pedro Rebelo-Guiomar, Aaron R D'Souza, 2017, Human molecular genetics.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

S. Homma, V. Emmanuele, H. Akman, 2015, Human molecular genetics.

Open prospective study on oxcarbazepine in epilepsy in children: A preliminary report

C. Garone, E. Franzoni, E. Malaspina, 2006, Seizure.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

V. Emmanuele, H. Akman, M. Hirano, 2014, EMBO molecular medicine.

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

S. Kalko, K. Engelstad, C. Paradas, 2019, Annals of neurology.

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

E. Barca, M. Juanola-Falgarona, M. Hirano, 2017, Annals of neurology.

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

M. Hirano, C. Garone, S. Tadesse, 2011, Brain : a journal of neurology.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

V. Mootha, N. Bresolin, G. Comi, 2012, Brain : a journal of neurology.

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.

V. Mootha, S. Dimauro, S. Calvo, 2012, Archives of neurology.

Metabolic Myopathies

S. Dimauro, C. Garone, A. Naini, 2010, Current rheumatology reports.

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.

E. Barca, M. Hirano, C. Garone, 2014, Brain : a journal of neurology.

Historical perspective on mitochondrial medicine.

S. Dimauro, C. Garone, 2010, Developmental disabilities research reviews.

A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit

Pedro Rebelo-Guiomar, M. Minczuk, A. Whitworth, 2021, bioRxiv.

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

D. Jaffe, V. Mootha, S. Dimauro, 2012, Science Translational Medicine.

TMEM14C is required for erythroid mitochondrial heme metabolism.

Jerry Kaplan, Harvey F Lodish, Daniel E Bauer, 2014, The Journal of clinical investigation.

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

S. Dimauro, A. Elkahloun, D. Kleiner, 2018, JCI insight.

The Transcriptome of SH-SY5Y at Single-Cell Resolution: A CITE-Seq Data Analysis Workflow

F. Giorgi, D. Mercatelli, F. D. Giorgio, 2021, Methods and protocols.

No Kinetic Interaction Between Levetiracetam and Cyclosporine: A Case Report

C. Garone, E. Franzoni, E. Malaspina, 2007, Journal of child neurology.

Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.

S. Dimauro, C. Garone, Salvatore DiMauro, 2011, Seminars in fetal & neonatal medicine.

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Mitochondrion.

Fever as a seizure precipitant factor in Panayiotopoulos syndrome: A clinical and genetic study

F. Zara, E. Gennaro, C. Garone, 2012, Seizure.

A new case of idiopathic hemiplegia hemiconvulsion syndrome

R. Lodi, B. Bernardi, C. Tonon, 2010, Neurological Sciences.

Unusual Diagnosis in a Child Suffering From Juvenile Alexander Disease: Clinical and Imaging Report

R. Zimmerman, B. Bernardi, M. S. van der Knaap, 2006, Journal of child neurology.

SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors

A. Verrotti, C. Garone, S. Gualandi, 2009, Neuropsychiatric disease and treatment.

Preliminary report on effects of oxcarbazepine‐treatment on serum lipid levels in children

C. Garone, E. Franzoni, E. Malaspina, 2006, European journal of neurology.

Metabolic myopathies.

S. Dimauro, C. Garone, A. Naini, 2010, Current rheumatology reports.

Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy

C. Garone, V. Gentile, D. Cordelli, 2009, Journal of Neurology.

A Journal of Neurology

G. Sandini, V. Mootha, S. Corti, 2009 .

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.

T. Akay, S. Homma, F. Sera, 2014, The Journal of clinical investigation.

Dopamine and performance in a reinforcement learning task: evidence from Parkinson’s disease

V. Mootha, S. Corti, B. Zörner, 2012, Brain : a journal of neurology.

Effects of Nigral Stimulation on Locomotion and Postural Stability in Patients with Parkinson's Disease

G. Sandini, V. Mootha, S. Corti, 2022 .

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

S. Homma, V. Emmanuele, H. Akman, 2015, Human molecular genetics.

Dopamine and performance in a reinforcement learning task: evidence from Parkinson’s disease

V. Mootha, S. Corti, B. Zörner, 2012, Brain : a journal of neurology.

Graph theoretical analysis of magnetoencephalographic functional connectivity in Alzheimer's disease.

G. Sandini, V. Mootha, S. Corti, 2009, Brain : a journal of neurology.

Metabolic Myopathies

S. Dimauro, C. Garone, A. Naini, 2010, Current rheumatology reports.

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Y. Crow, D. Mitra, B. Bernardi, 2010, Developmental medicine and child neurology.

Topiramate: effects on serum lipids and lipoproteins levels in children

F. Chiarelli, A. Verrotti, C. Garone, 2007, European journal of neurology.