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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

JIMD reports, 2021-07, Vol.60 (1), p.15-22

2021

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High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

Epilepsia open, 2021-12, Vol.6 (4), p.685-693

2021

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Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

Epilepsia open, 2017-06, Vol.2 (2), p.236-243

2017

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Exome sequencing in paediatric patients with movement disorders

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.32-32, Article 32

2021

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Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

PloS one, 2015-05, Vol.10 (5), p.e0126446-e0126446

2015

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Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome

PloS one, 2012-07, Vol.7 (7), p.e41802-e41802

2012

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CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

Brain & development (Tokyo. 1979), 2015-04, Vol.37 (4), p.446-448

2015

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Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Frontiers in cardiovascular medicine, 2024, Vol.11, p.1335527-1335527

2024

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Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

Stem cell research, 2020-12, Vol.49, p.102040-102040, Article 102040

2020

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Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

Frontiers in genetics, 2022-08, Vol.13, p.933381-933381

2022

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O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis

Genetics in Medicine Open, 2024, Vol.2, p.101019, Article 101019

2024

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Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory

Healthcare (Basel), 2022-12, Vol.10 (12), p.2521

2022

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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Npj genomic medicine, 2019-08, Vol.4 (1), p.18-11, Article 18

2019

Volltextzugriff (PDF)

Design, Synthesis and Biological Evaluation of Noncovalent Inhibitors of Human CD38 NADase

ChemMedChem, 2012-02, Vol.7 (2), p.223-228

2012

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Studies on the Synthesis of Nicotinamide Nucleoside and Nucleotide Analogues and Their Inhibitions towards CD38 NADase

Heterocycles, 2011-12, Vol.83 (12), p.2837

2011

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Catalysis-Based Inhibitors of the Calcium Signaling Function of CD38

Biochemistry (Easton), 2012-01, Vol.51 (1), p.555-564

2012

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Design, synthesis and biological characterization of novel inhibitors of CD38

Organic & biomolecular chemistry, 2011-05, Vol.9 (9), p.3246-3257

2011

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Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy: e0126446

PloS one, 2015-05, Vol.10 (5)

2015

Volltextzugriff (PDF)

Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

JIMD reports, 2021, Vol.60 (1), p.15-22

2021

Volltextzugriff (PDF)

ChemInform Abstract: Studies of the Synthesis of Nicotinamide Nucleoside and Nucleotide Analogues and Their Inhibitions Towards CD38 NADase

ChemInform, 2012-04, Vol.43 (15), p.no-no

2012

Volltextzugriff (PDF)

Multidisciplinary prehabilitation to improve frailty and functional capacity in high-risk elective surgical patients: a retrospective pilot study

Perioperative medicine (London), 2024-01, Vol.13 (1), p.6-6, Article 6

2024

Volltextzugriff (PDF)

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

Exome sequencing in paediatric patients with movement disorders

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome

CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Design, Synthesis and Biological Evaluation of Noncovalent Inhibitors of Human CD38 NADase

Studies on the Synthesis of Nicotinamide Nucleoside and Nucleotide Analogues and Their Inhibitions towards CD38 NADase

Catalysis-Based Inhibitors of the Calcium Signaling Function of CD38

Design, synthesis and biological characterization of novel inhibitors of CD38

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy: e0126446

Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

ChemInform Abstract: Studies of the Synthesis of Nicotinamide Nucleoside and Nucleotide Analogues and Their Inhibitions Towards CD38 NADase

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Multidisciplinary prehabilitation to improve frailty and functional capacity in high-risk elective surgical patients: a retrospective pilot study

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