Search Results - "Meznaric, M."

Concomitant fenestration and phlebectasia of the right internal jugular vein: a unique finding in anatomical dissection by Cvetko, E, Meznarič, M

“…The internal jugular vein (IJV) is an important vascular structure for oncologists and radiologists and is also a frequently used central venous route. The…”
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Clinical and molecular features of mitochondrial DNA depletion syndromes by Spinazzola, A, Invernizzi, F, Carrara, F, Lamantea, E, Donati, A, DiRocco, M, Giordano, I, Meznaric-Petrusa, M, Baruffini, E, Ferrero, I, Zeviani, M

“…Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers…”
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Effect of ageing on the myosin heavy chain composition of the human sternocleidomastoid muscle by Meznaric, M., Eržen, I., Karen, P., Cvetko, E.

“…The myosin heavy chain (MyHC) composition of ageing limb muscles is transformed into a slower phenotype and expresses fast-twitch fibre type atrophy,…”
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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study by Rogac, M, Neubauer, D, Leonardis, L, Pecaric, N, Meznaric, M, Maver, A, Sperl, W, Garavaglia, BM, Lamantea, E, Peterlin, B

“…The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience…”
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Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele by Meznaric, M., Gonzalez-Quereda, L., Gallardo, E., de Luna, N., Gallano, P., Fanin, M., Angelini, C., Peterlin, B., Zidar, J.

“…Background:  In some cases, a definitive confirmation of dysferlinopathy cannot be achieved by DNA test, because the mutation is detected in one allele only…”
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Life-threatening myositis after one dose of nivolumab in a patient with nonmetastatic completely resected cutaneous melanoma by Rus, Tomaž, Gregorič Kramberger, Milica, Brecl Jakob, Gregor, Leonardis, Lea, Meznaric, Marija

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Identification of myosin heavy chain I, IIa and IIx in canine skeletal muscles by an electrophoretic and immunoblotting study by Smerdu, V, Strbenc, M, Meznaric-Petrusa, M, Fazarinc, G

“…To determine which myosin heavy chain (MHC) isoforms are expressed in canine skeletal muscles, different muscle samples of five mixed-breed dogs were analysed…”
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Is L-carnitine treatment important in mitochondrial DNA depletion syndrome due to mutation in the tymidine kinase 2 gene? by Rogac, M, Rener-Primec, Z, Frelih, J, Meznaric-Petrusa, M, Neubauer, D

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Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele: Patients with one mutated allele in dysferlin gene by Meznaric, M., Gonzalez-Quereda, L., Gallardo, E., de Luna, N., Gallano, P., Fanin, M., Angelini, C., Peterlin, B., Zidar, J.

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Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia by Peterlin, B., Zidar, J., Meznarič-Petruša, M., Zupančič, N.

“…Most population studies on Duchenne (DMD) and Becker (BMD) muscular dystrophies predated the discovery of the gene and its product dystrophin. The diagnosis of…”
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Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy by Palmieri, Luigi, Alberio, Simona, Pisano, Isabella, Lodi, Tiziana, Meznaric-Petrusa, Mija, Zidar, Janez, Santoro, Antonella, Scarcia, Pasquale, Fontanesi, Flavia, Lamantea, Eleonora, Ferrero, Iliana, Zeviani, Massimo

“…Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were…”
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Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression by Fanin, Marina, Nascimbeni, Anna Chiara, Fulizio, Luigi, Trevisan, Carlo Pietro, Meznaric-Petrusa, Marija, Angelini, Corrado

“…The diagnosis of limb girdle muscular dystrophy (LGMD) type 2A (due to mutations in the gene encoding for calpain-3) is currently based on protein analysis,…”
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Phosphorylation of Dystrophin: Effects on Actin Binding by Senter, L., Ceoldo, S., Petrusa, M.M., Salviati, G.

“…Dystrophin is phosphorylated by several protein kinases. In this work, we have studied the effects of dystrophin phosphorylation on the binding to actin…”
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Functional Outcome of Children With Mitochondrial Diseases by Rogac, Mihael, MD, MSc, Meznaric, Marija, MD, PhD, Zeviani, Massimo, MD, PhD, Sperl, Wolfgang, MD, PhD, Neubauer, David, MD, PhD

“…We evaluated the functional outcome in a cohort of 22 children with mitochondrial diseases. The Pediatric Evaluation of Disability Inventory was administered…”
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Acute Quadriplegic Myopathy in a 17-Month-Old Boy by Salviati, Leonardo, Laverda, Anna Maria, Zancan, Lucia, Fanin, Marina, Angelini, Corrado, Meznaric-Petrusa, Mija

“…Acute quadriplegic myopathy is a rare condition associated with the use of nondepolarizing muscle-blocking agents and corticosteroids in the course of severe…”
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The correlation between histophotometrical and biochemical myosin-ATPase measurements in the myocardium and striated muscle of the rat by Punkt, K, Krug, H, Punkt, J, Erzen, I, Meznaric, M

“…To prove the correlation between histophotometrical and biochemical data of myosin-ATPase-activity, the change of enzyme activity during development was…”
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