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Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach

Molecules (Basel, Switzerland), 2020-04, Vol.25 (8), p.1784

2020

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Adolph Seeligmüller (1837–1912)

Journal of neurology, 2021-08, Vol.268 (8), p.3049-3051

2021

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Cellular Stress in the Pathogenesis of Muscular Disorders-From Cause to Consequence

International journal of molecular sciences, 2020-08, Vol.21 (16), p.5830

2020

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Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype–Phenotype analysis of 50 patients

Journal of the neurological sciences, 2014-03, Vol.338 (1), p.107-111

2014

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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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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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Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination

Journal of neurology, 2020-08, Vol.267 (8), p.2408-2420

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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Zur Konzeptgeschichte der Myotonia congenita: Die Beiträge von Julius Thomsen und Adolph Seeligmüller

Fortschritte der Neurologie, Psychiatrie, 2022-09, Vol.90 (9), p.406-415

2022

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Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.57-57, Article 57

2018

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Phenotype of matrin-3-related distal myopathy in 16 German patients

Annals of neurology, 2014-11, Vol.76 (5), p.669-680

2014

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Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.1106-1122

2016

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Switch to double positive late onset MuSK myasthenia gravis following thymomectomy in paraneoplastic AChR antibody positive myasthenia gravis

Journal of neurology, 2016-01, Vol.263 (1), p.174-176

2016

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Malony-CoA inhibits the S113L variant of carnitine-palmitoyltransferase II

Biochimica et biophysica acta, 2016-01, Vol.1861 (1), p.34-40

2016

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Cognitive impairment, clinical severity and MRI changes in MELAS syndrome

Mitochondrion, 2019-01, Vol.44, p.53-57

2019

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A randomized, double blind, placebo-controlled trial of pioglitazone in combination with riluzole in amyotrophic lateral sclerosis

PloS one, 2012-06, Vol.7 (6), p.e37885-e37885

2012

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Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F

International journal of molecular sciences, 2021-05, Vol.22 (9), p.4831

2021

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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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Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.574-583

2021

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Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

Journal of neurology, 2011-05, Vol.258 (5), p.866-873

2011

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Skeletal muscle fibers produce B-cell stimulatory factors in chronic myositis

Frontiers in immunology, 2023-09, Vol.14, p.1177721-1177721

2023

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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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The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy

Experimental neurology, 2018-08, Vol.306, p.222-231

2018

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Lack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin

Journal of bioenergetics and biomembranes, 2018-12, Vol.50 (6), p.461-466

2018

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Liebe Leserinnen und Leser

Klinische Neurophysiologie, 2022-03, Vol.53 (1), p.1-1

2022

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Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach

Adolph Seeligmüller (1837–1912)

Cellular Stress in the Pathogenesis of Muscular Disorders-From Cause to Consequence

Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype–Phenotype analysis of 50 patients

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

FGF-21 as a Potential Biomarker for Mitochondrial Diseases

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination

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

Zur Konzeptgeschichte der Myotonia congenita: Die Beiträge von Julius Thomsen und Adolph Seeligmüller

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease

Phenotype of matrin-3-related distal myopathy in 16 German patients

Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis

Switch to double positive late onset MuSK myasthenia gravis following thymomectomy in paraneoplastic AChR antibody positive myasthenia gravis

Malony-CoA inhibits the S113L variant of carnitine-palmitoyltransferase II

Cognitive impairment, clinical severity and MRI changes in MELAS syndrome

A randomized, double blind, placebo-controlled trial of pioglitazone in combination with riluzole in amyotrophic lateral sclerosis

Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F

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

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

Skeletal muscle fibers produce B-cell stimulatory factors in chronic myositis

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

The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy

Lack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin

Liebe Leserinnen und Leser

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