P. Zavadáková

发表

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

L. Schöls, C. Rivolta, O. Poirot, 2013, Human molecular genetics.

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.

J. Ivanisevic, H. Henry, O. Braissant, 2016, Molecular genetics and metabolism.

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

V. Chalifa-Caspi, R. Veitia, C. Charon, 2012, PloS one.

The Deep Intronic c.903+469T>C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cblE Type of Homocystinuria

L. D. Schroeder, T. K. Doktor, B. Andresen, 2010, Human mutation.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

T. Suormala, L. Vilarinho, M. Pineda, 2003, Journal of Inherited Metabolic Disease.

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis*

M. Baumgartner, T. Suormala, A. Sewell, 2004, Journal of Biological Chemistry.

Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type I

H. Henry, O. Braissant, L. Bonafė, 2013, PloS one.

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

H. Henry, O. Braissant, L. Bonafė, 2013, Orphanet Journal of Rare Diseases.

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?

V. Kožich, B. Janošíková, P. Zavadáková, 2005, European Journal of Human Genetics.

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

T. Suormala, L. Vilarinho, J. Zeman, 2005, Human mutation.

PLEKHG 5 deficiency leads to an intermediate form of autosomal-recessive Charcot – Marie – Tooth disease

L. Schöls, C. Rivolta, O. Poirot, 2013 .