• Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency 

  Rybová, Jitka; Kuchař, Ladislav; Sikora, Jakub; McKillop, William M.; Medin, Jeffrey A. (2022)

  Acid ceramidase catalyzes the degradation of ceramide into sphingosine and a free fatty acid. Acid ceramidase deficiency results in lipid accumulation in many tissues and leads to the development of Farber disease (FD). ...

• Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds 

  Součková, Olga; Škopová, Václava; Barešová, Veronika; Sedlak, David; Bleyer, Anthony; Kmoch, Stanislav; Zikánová, Marie (2022)

  Cytotoxicity of de novo purine synthesis (DNPS) metabolites is critical to the pathogenesis of three known and one putative autosomal recessive disorder affecting DNPS. These rare disorders are caused by biallelic mutations ...

• Restoration of functional network state towards more physiological condition as the correlate of clinical effects of pallidal deep brain stimulation in dystonia 

  Filip, Pavel; Jech, Robert; Fečíková, Anna; Havránková, Petra; Růžička, Filip; Müller, Karsten; Urgošík, Dušan (2022)

  Background: Deep brain stimulation of the internal globus pallidus (GPi DBS) is an invasive therapeutic modality intended to retune abnormal central nervous system patterns and relieve the patient of dys-tonic or other ...

• Sex bias in multiple sclerosis and neuromyelitis optica spectrum disorders: How it influences clinical course, MRI parameters and prognosis 

  Nytrová, Petra; Dolezal, Ondrej (2022)

  This review is a condensed summary of representative articles addressing the sex/gender bias in multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). The strong effects of sex on the incidence and ...

• Brainstem lesions are associated with diffuse spinal cord involvement in early multiple sclerosis 

  Andělová, Michaela; Vodehnalová, Karolína; Krásenský, Jan; Hardubejová, Eliška; Hrnčiarová, Tereza; Srpová, Barbora; Uher, Tomáš; Meňkyová, Ingrid; Šťastná, Dominika; Friedová, Lucie; Motýl, Jiří; Lízrová Preiningerová, Jana; Kubala Havrdová, Eva; Marechal, Benedicte; Fartaria, Mario Joao; Kober, Tobias; Horáková, Dana; Vaněčková, Manuela (2022)

  Background: Early infratentorial and focal spinal cord lesions on magnetic resonance imaging (MRI) are associated with a higher risk of long-term disability in patients with multiple sclerosis (MS). The role of diffuse ...

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