Search Results - "Turcanova Koprusakova, Monika"
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Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies
Published in Scientific reports (20-08-2024)“…Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the…”
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Dietary Mg2+ Intake and the Na+/Mg2+ Exchanger SLC41A1 Influence Components of Mitochondrial Energetics in Murine Cardiomyocytes
Published in International journal of molecular sciences (03-11-2020)“…Cardiomyocytes are among the most energy-intensive cell types. Interplay between the components of cellular magnesium (Mg) homeostasis and energy metabolism in…”
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Proton magnetic resonance spectroscopy changes in the brainstem in patients after mild traumatic brain injury with loss of consciousness
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01-03-2022)“…Loss of consciousness (LOC) is used as a diagnostic feature of mild traumatic brain injury (MTBI). However, only 10% of concussions result in LOC. There are…”
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The safety and efficacy of Heparin and Nadroparin compared to placebo in acute ischemic stroke - pilot study
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01-12-2016)“…This study aimed to compare the efficacy and safety of heparin and nadroparin in order to provide an additional therapeutic option for patients with acute…”
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Prevalence of non‐motor symptoms and their association with quality of life in cervical dystonia
Published in Acta neurologica Scandinavica (01-12-2020)“…Objectives Non‐motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on…”
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Mitochondrial Dysfunction in Sporadic Amyotrophic Lateral Sclerosis Patients: Insights from High-Resolution Respirometry
Published in Biomedicines (11-06-2024)“…Amyotrophic lateral sclerosis is a severe neurodegenerative disease whose exact cause is still unclear. Currently, research attention is turning to the…”
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Disturbances in Muscle Energy Metabolism in Patients with Amyotrophic Lateral Sclerosis
Published in Metabolites (23-06-2024)“…Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease type of motor neuron disorder characterized by degeneration of the upper and lower motor…”
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The influence of levodopa, entacapone and homocysteine on prevalence of polyneuropathy in patients with Parkinson's disease
Published in Journal of the neurological sciences (15-09-2018)“…•Parkinson's disease (PD) is a chronic progressive disease of the nervous system.•Recently, there has been a growing amount of evidence about peripheral…”
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Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
Published in BMC neurology (27-07-2021)“…Abstract Background Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding…”
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Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2
Published in Journal of the neurological sciences (15-05-2017)Get full text
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Proton magnetic resonance spectroscopy in patients with early stages of amyotrophic lateral sclerosis
Published in Neuroradiology (01-12-2010)“…Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder primarily affecting upper and lower motor neurons. Due to relative…”
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Dietary Mg 2+ Intake and the Na + /Mg 2+ Exchanger SLC41A1 Influence Components of Mitochondrial Energetics in Murine Cardiomyocytes
Published in International journal of molecular sciences (03-11-2020)“…Cardiomyocytes are among the most energy-intensive cell types. Interplay between the components of cellular magnesium (Mg) homeostasis and energy metabolism in…”
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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Published in Annals of neurology (20-09-2024)“…De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been…”
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