List of works - Caterina Garone

A new case of idiopathic hemiplegia hemiconvulsion syndrome

scientific article published on 13 May 2010

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

scientific article published on 19 September 2017

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy ⬇️

scientific article published on September 20, 2011

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders ⬇️

scientific article published on January 18, 2012

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

scientific article published on 10 April 2014

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

scientific article

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

scientific article published on 18 May 2011

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

scientific article published on 19 October 2011

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

scientific article published on 22 November 2017

Historical perspective on mitochondrial medicine ⬇️

scientific article published on January 1, 2010

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

article

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

scientific article published on 20 October 2006

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

scientific article

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

scientific article published on 10 October 2013

Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain ⬇️

scientific article published on May 28, 2011

Metabolic myopathies

scientific article published on 01 October 2010

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

scientific article published on September 2013

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

scientific article

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

scientific article

No kinetic interaction between levetiracetam and cyclosporine: a case report

scientific article published on 01 April 2007

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

scientific article published on 22 March 2006

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

scientific article

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

scientific article published on 14 July 2009

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

scientific article

Retrospective natural history of thymidine kinase 2 deficiency.

scientific article

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

scientific article published on 08 April 2009

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

scientific article

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

scientific article published on 12 November 2012

Topiramate: effects on serum lipids and lipoproteins levels in children.

scientific article published on 3 October 2007

Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.

scientific article published in December 2006

List of works by Caterina Garone

A new case of idiopathic hemiplegia hemiconvulsion syndrome

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

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy ⬇️

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders ⬇️

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

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

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

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

Historical perspective on mitochondrial medicine ⬇️

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

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

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

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

Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain ⬇️

Metabolic myopathies

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

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

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

No kinetic interaction between levetiracetam and cyclosporine: a case report

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

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

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

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

Retrospective natural history of thymidine kinase 2 deficiency.

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

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

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

Topiramate: effects on serum lipids and lipoproteins levels in children.

Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.