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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

Journal of human genetics, 2016-07, Vol.61 (7), p.617-625

2016

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Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease

PloS one, 2014-09, Vol.9 (9), p.e107585

2014

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Enantioselective separation of zopiclone on immobilized polysaccharide chiral stationary phase by HPLC: Method development and validation

Journal of pharmaceutical and biomedical analysis, 2020-10, Vol.190, p.113549-113549, Article 113549

2020

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Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases

Parkinsonism & related disorders, 2016-07, Vol.28, p.87-93

2016

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Enantiomeric separation of bupropion by liquid chromatography on derivatized cyclofructan chiral stationary phase

Chirality (New York, N.Y.), 2022-10, Vol.34 (10), p.1311-1319

2022

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Porphyria cutanea tarda triggered by hepatitis-E virus

Bratislava Medical Journal, 2024, Vol.125 (10), p.587-588

2024

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Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Journal of human genetics, 2007-04, Vol.52 (4), p.342-348

2007

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Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography

Journal of magnetic resonance imaging, 2018-01, Vol.47 (1), p.282-285

2018

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Parkin

PloS one, 2014-09, Vol.9 (9)

2014

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APOE epsilon 4: A Potential Modulation Factor in Rett Syndrome

Journal of child neurology, 2010-05, Vol.25 (5), p.546-550

2010

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APOE ε4: A Potential Modulation Factor in Rett Syndrome

Journal of child neurology, 2010-05, Vol.25 (5), p.546-550

2010

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Gene symbol: MECP2. Disease: Rett syndrome

Human genetics, 2008-10, Vol.124 (3), p.315-315

2008

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Mutation analysis of the MECP2 gene in patients with Rett syndrome

The FASEB journal, 2006-03, Vol.20 (4), p.A70-A70

2006

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No association with the ETM2 locus in Czech patients with familial essential tremor

Neuro-endocrinology letters, 2010, Vol.31 (4), p.549-552

2010

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APOE epsilon4: a potential modulation factor in Rett syndrome

Journal of child neurology, 2010-05, Vol.25 (5), p.546-550

2010

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Rett Syndrome

Zahorakova, Daniela

2013

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Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy

Folia biologica, 2016-01, Vol.62 (2), p.67-74

2016

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Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography

Journal of magnetic resonance imaging : JMRI, 2018, Vol.47 (1), p.282-285

2018

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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

Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease

Enantioselective separation of zopiclone on immobilized polysaccharide chiral stationary phase by HPLC: Method development and validation

Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases

Enantiomeric separation of bupropion by liquid chromatography on derivatized cyclofructan chiral stationary phase

Porphyria cutanea tarda triggered by hepatitis-E virus

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography

Parkin

APOE epsilon 4: A Potential Modulation Factor in Rett Syndrome

APOE ε4: A Potential Modulation Factor in Rett Syndrome

Gene symbol: MECP2. Disease: Rett syndrome

Mutation analysis of the MECP2 gene in patients with Rett syndrome

No association with the ETM2 locus in Czech patients with familial essential tremor

APOE epsilon4: a potential modulation factor in Rett syndrome

Rett Syndrome

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy

Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography

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