Pushpa R. Joshi

Ernst Grube Str. 40
Halle, NI 06120, Germany

Last Updated: 09/26/2026

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Found 17 publications

Clinical Ophthalmic Outcomes and Impact of Single Large-Scale Mitochondrial DNA Deletions.

Clinical Ophthalmic Outcomes and Impact of Single Large-Scale Mitochondrial DNA Deletions.

Journal: Journal of clinical medicine

Published: February 13, 2025

Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges.

Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges.

Journal: Geriatrics (Basel, Switzerland)

Published: January 11, 2024

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

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

Journal: Metabolites

Published: October 19, 2022

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

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

Journal: Journal of neuromuscular diseases

Published: June 13, 2022

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

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

Journal: Molecules (Basel, Switzerland)

Published: February 20, 2020

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

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

Journal: Biomedicines

Published: December 16, 2019

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

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

Journal: Headache

Published: May 26, 2017

Managing post laparotomy pain in a contingency setting: the utility of rectus sheath catheters.

Managing post laparotomy pain in a contingency setting: the utility of rectus sheath catheters.

Journal: Journal of the Royal Army Medical Corps

Published: April 21, 2017

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

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

Journal: Neurological research

Published: October 21, 2016

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

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

Journal: Journal of neurology

Published: September 02, 2015

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

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

Journal: European journal of human genetics : EJHG

Published: January 16, 2015

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

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

Journal: Journal of medical genetics

Published: October 19, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026