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Gene-specific treatment approaches in muscle diseases

Nervenarzt, 2020-04, Vol.91 (4), p.318-323

2020

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Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features

International journal of molecular sciences, 2017-01, Vol.18 (1), p.82-82

2017

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Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis

Genes, 2020-02, Vol.11 (2), p.212

2020

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FGF-21 as a Potential Biomarker for Mitochondrial Diseases

Current medicinal chemistry, 2018-01, Vol.25 (18), p.2070-2081

2018

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Myalgia in 30 Patients with Suspected Myopathy

International journal of environmental research and public health, 2020-04, Vol.17 (7), p.2502

2020

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Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency

Journal of the neurological sciences, 2014-04, Vol.339 (1), p.183-188

2014

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The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

Therapeutic advances in neurological disorders, 2021, Vol.14, p.1756286420985256-1756286420985256

2021

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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Journal of neurology, 2016-05, Vol.263 (5), p.961-972

2016

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The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation

Biomolecules (Basel, Switzerland), 2020-07, Vol.10 (8), p.1103

2020

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Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency

International journal of molecular sciences, 2019-03, Vol.20 (6), p.1400

2019

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Palmitate but Not Oleate Exerts a Negative Effect on Oxygen Utilization in Myoblasts of Patients with the m.3243A>G Mutation: A Pilot Study

Life (Basel, Switzerland), 2020-09, Vol.10 (9), p.204

2020

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A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders

Biochimica et biophysica acta. Molecular basis of disease, 2024-06, Vol.1870 (5), p.167131, Article 167131

2024

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Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation

Diagnostics (Basel), 2020-01, Vol.10 (2), p.68

2020

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The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

Diseases, 2020-06, Vol.8 (2), p.19

2020

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Overview of Approaches to Mitochondrial Disease Therapy

Journal of inborn errors of metabolism and screening, 2018-01, Vol.6, p.232640981775296

2018

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Hyperkalzämie als Folge von?

Primary and hospital care (Deutsche Ausg. Internet), 2023-10

2023

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On the Enigmatic Hook of the Metaradiophryids (Alveolata, Ciliophora)

Acta Protozoologica, 2016-01, Vol.55 (1), p.1-5

2016

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Genspezifische Therapieansätze bei Muskelerkrankungen

Nervenarzt, 2020-04, Vol.91 (4), p.318-323

2020

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Differential Effects of Octreotide and Pasireotide on Somatostatin Receptor Internalization and Trafficking in Vitro

The journal of clinical endocrinology and metabolism, 2009-02, Vol.94 (2), p.654-661

2009

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Hypercalcémie due à?

Primary and hospital care (Ed. française), 2023-10

2023

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Understanding Mitochondrial DNA Maintenance Disorders at the Single Muscle Fibre Level (427)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Pasireotide and Octreotide Stimulate Distinct Patterns of sst2A Somatostatin Receptor Phosphorylation

Molecular endocrinology (Baltimore, Md.), 2010-02, Vol.24 (2), p.436-446

2010

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Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Nucleic acids research, 2019-08, Vol.47 (14), p.7430-7443

2019

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The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243AG Mutation

Biomolecules (Basel, Switzerland), 2020-08, Vol.10 (8)

2020

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The m.9143TC Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

Diseases, 2020-06, Vol.8 (2)

2020

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Gene-specific treatment approaches in muscle diseases

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features

Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis

FGF-21 as a Potential Biomarker for Mitochondrial Diseases

Myalgia in 30 Patients with Suspected Myopathy

Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency

The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency

Palmitate but Not Oleate Exerts a Negative Effect on Oxygen Utilization in Myoblasts of Patients with the m.3243A>G Mutation: A Pilot Study

A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders

Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation

The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

Overview of Approaches to Mitochondrial Disease Therapy

Hyperkalzämie als Folge von?

On the Enigmatic Hook of the Metaradiophryids (Alveolata, Ciliophora)

Genspezifische Therapieansätze bei Muskelerkrankungen

Differential Effects of Octreotide and Pasireotide on Somatostatin Receptor Internalization and Trafficking in Vitro

Hypercalcémie due à?

Understanding Mitochondrial DNA Maintenance Disorders at the Single Muscle Fibre Level (427)

Pasireotide and Octreotide Stimulate Distinct Patterns of sst2A Somatostatin Receptor Phosphorylation

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243AG Mutation

The m.9143TC Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

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