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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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Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges

Geriatrics (Basel), 2024-04, Vol.9 (2), p.34

Joshi, Pushpa Raj

2024

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Isolation, Characterization and Anticancer Potential of Cytotoxic Triterpenes from Betula utilis Bark

PloS one, 2016-07, Vol.11 (7), p.e0159430-e0159430

2016

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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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Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene

Journal of clinical neuroscience, 2020-06, Vol.76, p.229-232

2020

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German primary care data collection projects: a scoping review

BMJ open, 2024-02, Vol.14 (2), p.e074566-e074566

2024

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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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Sialylation and muscle performance: sialic acid is a marker of muscle ageing

PloS one, 2013-12, Vol.8 (12), p.e80520-e80520

2013

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In Memoriam: Professor Stephan Zierz (1954-2024)

Neuromuscular disorders : NMD, 2024-08, Vol.41, p.40-41

Joshi, Pushpa Raj

2024

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Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation

Neuropathology, 2015-04, Vol.35 (2), p.130-136

2015

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Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1735-1738

2015

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A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

Neuromuscular disorders : NMD, 2015-01, Vol.25 (1), p.81-84

2015

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Young people's views on religious fundamentalism, ethno-nationalism and SRHR: an SRHM South Asia virtual roundtable discussion

Sexual and reproductive health matters, 2022, Vol.29 (2), p.2073955-2073955

2022

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McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients

Biomedicines, 2020-02, Vol.8 (2), p.33

2020

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Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping

Neuromuscular disorders : NMD, 2014-01, Vol.24 (1), p.43-47

2014

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A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Neuromuscular disorders : NMD, 2015-01, Vol.25 (1), p.81-84

2015

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Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

Metabolites, 2022-11, Vol.12 (11), p.1141

2022

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Functional relevance of mitochondrial abnormalities in sporadic inclusion body myositis

Journal of clinical neuroscience, 2014-11, Vol.21 (11), p.1959-1963

2014

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Mitochondrial abnormalities in myofibrillar myopathies

Clinical neuropathology, 2014-03, Vol.33 (2), p.134-142

2014

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Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency

Wiener Klinische Wochenschrift, 2012-12, Vol.124 (23-24), p.851-854

2012

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GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Journal of neuromuscular diseases, 2022-01, Vol.9 (4), p.533-541

2022

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Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey

Journal of clinical neuroscience, 2019-01, Vol.59, p.32-36

2019

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Phytochemical screening and GC-MS analysis of Skimmia laureola Decne. leaves from the Kumaon Region of Uttarakhand, India

Indian journal of Natural products and resources, 2024-03

2024

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Prevalence of Headache in Patients With Mitochondrial Disease: A Cross‐Sectional Study

Headache, 2018-01, Vol.58 (1), p.45-52

2018

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Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

Journal of neurology, 2016-04, Vol.263 (4), p.743-750

2016

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

Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges

Isolation, Characterization and Anticancer Potential of Cytotoxic Triterpenes from Betula utilis Bark

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

Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene

German primary care data collection projects: a scoping review

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

Sialylation and muscle performance: sialic acid is a marker of muscle ageing

In Memoriam: Professor Stephan Zierz (1954-2024)

Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

Young people's views on religious fundamentalism, ethno-nationalism and SRHR: an SRHM South Asia virtual roundtable discussion

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients

Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping

A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

Functional relevance of mitochondrial abnormalities in sporadic inclusion body myositis

Mitochondrial abnormalities in myofibrillar myopathies

Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey

Phytochemical screening and GC-MS analysis of Skimmia laureola Decne. leaves from the Kumaon Region of Uttarakhand, India

Prevalence of Headache in Patients With Mitochondrial Disease: A Cross‐Sectional Study

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

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