Lista de obras - Charalampos Tzoulis - Dominio Público Uruguay

A 90-year-old woman with acute hemiparesis

artículo científico publicado en 2006

A multicenter study on Leigh syndrome: disease course and predictors of survival

artículo científico publicado en 2014

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

artículo científico publicado en 2016

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

artículo científico publicado en 2012

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

artículo científico publicado en 2018

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

artículo científico publicado en 2016

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

artículo científico publicado en 2010

Differential transcript usage in the Parkinson's disease brain

artículo científico publicado en 2020

En kvinne i 70-årene med langvarige gangvansker

scientific article published on 20 October 2015

Erdheim-Chester disease presenting with an intramedullary spinal cord lesion.

artículo científico publicado en 2012

Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report

artículo científico publicado en 2015

Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia

artículo científico publicado en 2016

Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain

artículo científico publicado en 2021

Glitazone use associated with reduced risk of Parkinson's disease

artículo científico publicado en 2017

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

artículo científico publicado en 2015

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

article

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis.

artículo científico publicado en 2016

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

artículo científico publicado en 2011

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

artículo científico publicado en 2010

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

article

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

artículo científico publicado en 2013

Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes.

artículo científico publicado en 2016

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci

artículo científico publicado en 2020

Migrainous cerebral infarction in a previously healthy 93-year-old female patient with no risk factors for stroke

artículo científico publicado en 2006

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations

artículo científico publicado en 2009

Mitochondrial DNA depletion in sporadic inclusion body myositis

artículo científico publicado en 2019

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

artículo científico publicado en 2016

Molecular pathogenesis of polymerase γ-related neurodegeneration

artículo científico publicado en 2014

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

artículo científico publicado en 2013

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

artículo científico publicado en 2017

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

artículo científico publicado en 2009

Nigrostriatal denervation sine parkinsonism

artículo científico publicado en 2016

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

artículo científico publicado en 2016

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2013

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

artículo científico publicado en 2016

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

artículo científico publicado en 2012

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

artículo científico publicado en 2016

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

artículo científico publicado en 2008

Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement

artículo científico publicado en 2015

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

artículo científico publicado en 2013

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

artículo científico publicado en 2018

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

artículo científico publicado en 2008

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

artículo científico publicado en 2013

Simvastatin is associated with decreased risk of Parkinson disease

artículo científico publicado en 2016

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

artículo científico publicado en 2014

Subcellular Parkinson's Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration.

artículo científico publicado en 2016

The angiogenic switch leads to a metabolic shift in human glioblastoma

artículo científico publicado en 2016

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

artículo científico publicado en 2006

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease

artículo científico publicado en 2017

Lista de obras de Charalampos Tzoulis

A 90-year-old woman with acute hemiparesis

A multicenter study on Leigh syndrome: disease course and predictors of survival

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Differential transcript usage in the Parkinson's disease brain

En kvinne i 70-årene med langvarige gangvansker

Erdheim-Chester disease presenting with an intramedullary spinal cord lesion.

Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report

Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia

Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain

Glitazone use associated with reduced risk of Parkinson's disease

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis.

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes.

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci

Migrainous cerebral infarction in a previously healthy 93-year-old female patient with no risk factors for stroke

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations

Mitochondrial DNA depletion in sporadic inclusion body myositis

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

Molecular pathogenesis of polymerase γ-related neurodegeneration

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy

Nigrostriatal denervation sine parkinsonism

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

Simvastatin is associated with decreased risk of Parkinson disease

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

Subcellular Parkinson's Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration.

The angiogenic switch leads to a metabolic shift in human glioblastoma

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease