Lista de obras - Caterina Garone - Dominio Público Uruguay

A new case of idiopathic hemiplegia hemiconvulsion syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy ⬇️

artículo científico publicado el 20 de septiembre de 2011

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders ⬇️

artículo científico publicado el 18 de enero de 2012

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

artículo científico publicado en 2014

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Historical perspective on mitochondrial medicine ⬇️

artículo científico publicado el 1 de enero de 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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 ⬇️

artículo científico publicado el 28 de mayo de 2011

Metabolic myopathies

artículo científico publicado en 2010

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

No kinetic interaction between levetiracetam and cyclosporine: a case report

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Retrospective natural history of thymidine kinase 2 deficiency.

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Lista de obras de 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.