Lista de obras - Martin Magner - Dominio Público Uruguay

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease

scientific article published on 10 May 2019

Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children

artículo científico publicado en 2019

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

artículo científico publicado en 2012

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

artículo científico publicado en 2010

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

artículo científico publicado en 2012

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

artículo científico publicado en 2010

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

European Young Pediatricians Association: Laying the Foundations for Collaboration, Integration, and Networking among Pediatricians of the Future

artículo científico publicado en 2016

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

scientific article published on 06 April 2020

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

artículo científico publicado en 2020

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

artículo científico publicado en 2016

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

artículo científico publicado en 2022

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

artículo científico publicado en 2014

Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

artículo científico publicado en 2017

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning

artículo científico publicado en 2016

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

artículo científico publicado en 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

artículo científico publicado en 2010

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

artículo científico publicado en 2009

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

artículo científico publicado en 2016

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

artículo científico publicado en 2012

Novel mutations in the TAZ gene in patients with Barth syndrome

artículo científico publicado en 2013

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

article

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

artículo científico publicado en 2010

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

artículo científico publicado en 2008

RFT1-CDG in adult siblings with novel mutations

artículo científico publicado en 2012

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

artículo científico publicado en 2009

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

artículo científico publicado en 2008

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

artículo científico publicado en 2016

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

artículo científico publicado en 2016

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

artículo científico publicado en 2011

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

artículo científico publicado en 2010

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.

artículo científico publicado en 2007

Lista de obras de Martin Magner

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease

Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

European Young Pediatricians Association: Laying the Foundations for Collaboration, Integration, and Networking among Pediatricians of the Future

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

Novel mutations in the TAZ gene in patients with Barth syndrome

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Prolonged impairment of polymorphonuclear cells functions in one infant with transient zinc deficiency: a case report.

RFT1-CDG in adult siblings with novel mutations

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

SURF1 missense mutations promote a mild Leigh phenotype.

TMEM70 deficiency: long-term outcome of 48 patients

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.