Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach von Joshi, Pushpa Raj, Zierz, Stephan

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Pulmonary Diseases in Older Patients: Understanding and Addressing the Challenges von Joshi, Pushpa Raj

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Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype–Phenotype analysis of 50 patients von Joshi, Pushpa Raj, Deschauer, Marcus, Zierz, Stephan

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Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene von Raj Joshi, Pushpa, Sarangerel, Jambal, Munkhbayar, Rentsenbat, Gläser, Dieter, Zierz, Stephan

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McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients von Joshi, Pushpa Raj, Deschauer, Marcus, Zierz, Stephan

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In Memoriam: Professor Stephan Zierz (1954-2024) von Joshi, Pushpa Raj

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Sialylation and muscle performance: sialic acid is a marker of muscle ageing von Hanisch, Frank, Weidemann, Wenke, Großmann, Mona, Joshi, Pushpa Raj, Holzhausen, Hans-Jürgen, Stoltenburg, Gisela, Weis, Joachim, Zierz, Stephan, Horstkorte, Rüdiger

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Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate von Joshi, Pushpa Raj, Gräfin zu Stolberg-Stolberg, Maria, Scholle, Leila Motlagh, Meinhardt, Beate, Pegoraro, Elena, Zierz, Stephan

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Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation von Zierz, Charlotte Maria, Joshi, Pushpa Raj, Zierz, Stephan

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Functional relevance of mitochondrial abnormalities in sporadic inclusion body myositis von Joshi, Pushpa Raj, Vetterke, Mirjam, Hauburger, Anja, Tacik, Pawel, Stoltenburg, Gisela, Hanisch, Frank

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Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency von Joshi, Pushpa Raj, Deschauer, Marcus, Zierz, Stephan

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GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing von Mensch, Alexander, Cordts, Isabell, Scholle, Leila, Joshi, Pushpa Raj, Kleeberg, Kathleen, Emmer, Alexander, Beck-Woedl, Stefanie, Park, Joohyun, Haack, Tobias B., Stoltenburg-Didinger, Gisela, Zierz, Stephan, Deschauer, Marcus

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Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey von Joshi, Pushpa Raj, Deschauer, Marcus, Zierz, Stephan

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Prevalence of Headache in Patients With Mitochondrial Disease: A Cross‐Sectional Study von Kraya, Torsten, Deschauer, Marcus, Joshi, Pushpa Raj, Zierz, Stephan, Gaul, Charly

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Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy von Kuhn, Marius, Gläser, Dieter, Joshi, Pushpa Raj, Zierz, Stephan, Wenninger, Stephan, Schoser, Benedikt, Deschauer, Marcus

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Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency von Motlagh Scholle, Leila, Lehmann, Diana, Joshi, Pushpa Raj, Zierz, Stephan

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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 von Böhm, Johann, Chevessier, Frédéric, Koch, Catherine, Peche, G Arielle, Mora, Marina, Morandi, Lucia, Pasanisi, Barbara, Moroni, Isabella, Tasca, Giorgio, Fattori, Fabiana, Ricci, Enzo, Pénisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Fardeau, Michel, Joshi, Pushpa Raj, Deschauer, Marcus, Romero, Norma Beatriz, Eymard, Bruno, Laporte, Jocelyn

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Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant von Joshi, Pushpa Raj, Baty, Karen, Hopton, Sila, Cordts, Isabell, Falkous, Gavin, Schoser, Benedikt, Blakely, Emma L., Taylor, Robert W., Deschauer, Marcus

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MIRROR OF UPPER GASTROINTESTINAL ENDOSCOPIC FINDINGS IN LUMBINI PROVINCIAL HOSPITAL von Joshi, Pushpa Raj, Pokhrel, Sharad, Thapaliya, Narad Prashad

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Mirror of upper gastrointestinal endoscopic findings in Lumbini Provincial Hospital von Joshi, Pushpa Raj, Pokhrel, Sharad, Thapaliya, Narad Prashad

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