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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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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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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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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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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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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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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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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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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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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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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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Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease

Neurological research (New York), 2016-12, Vol.38 (12), p.1052-1055

2016

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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Journal of medical genetics, 2014-12, Vol.51 (12), p.824-833

2014

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MIRROR OF UPPER GASTROINTESTINAL ENDOSCOPIC FINDINGS IN LUMBINI PROVINCIAL HOSPITAL

Journal of Chitwan Medical College, 2020-06, Vol.10 (2), p.50-53

2020

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Mirror of upper gastrointestinal endoscopic findings in Lumbini Provincial Hospital

Journal of Chitwan Medical College, 2020-06, Vol.10 (2), p.50-53

2020

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Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

Neuromuscular disorders : NMD, 2020-04, Vol.30 (4), p.346-350

2020

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Expanding mutation spectrum in CPT II gene: identification of four novel mutations

Journal of neurology, 2013-05, Vol.260 (5), p.1412-1414

2013

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

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

2015

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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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Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset

Acta neuropathologica, 2009-06, Vol.117 (6), p.723-725

2009

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Digital Devices on Learning Management System and its Consequences on Physical and Mental Health among University Students in Nepal

Janaki Medical College Journal of Medical Science, 2019-12, Vol.7 (2), p.17-26

2019

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

Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges

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

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

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

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

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

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

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

Functional relevance of mitochondrial abnormalities in sporadic inclusion body myositis

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

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

Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

MIRROR OF UPPER GASTROINTESTINAL ENDOSCOPIC FINDINGS IN LUMBINI PROVINCIAL HOSPITAL

Mirror of upper gastrointestinal endoscopic findings in Lumbini Provincial Hospital

Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

Expanding mutation spectrum in CPT II gene: identification of four novel mutations

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

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

Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset

Digital Devices on Learning Management System and its Consequences on Physical and Mental Health among University Students in Nepal

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