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Search Results - Hlková, Helena
Search Results - Hlková, Helena
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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
by
Nosková, Lenka
,
Stránecký, Viktor
,
Hartmannová, Hana
,
Přistoupilová, Anna
,
Barešová, Veronika
,
Ivánek, Robert
,
Hůlková, Helena
,
Jahnová, Helena
,
van der Zee, Julie
,
Staropoli, John F.
,
Sims, Katherine B.
,
Tyynelä, Jaana
,
Van Broeckhoven, Christine
,
Nijssen, Peter C.G.
,
Mole, Sara E.
,
Elleder, Milan
,
Kmoch, Stanislav
Published in
American journal of human genetics
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Adipocytes participate in storage in [alpha]-galactosidase deficiency (Fabry disease)
by
Hlková, Helena
,
Elleder, Milan
Published in
Journal of inherited metabolic disease
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Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy
by
Hůlková, Helena
,
Druga, Rastislav
,
Ondrejovič, Pavol
,
Elleder, Milan
Published in
Acta neuropathologica
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Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency
by
Elleder, Milan
,
Dvořáková, Lenka
,
Stolnaja, Larisa
,
Vlášková, Hana
,
Hůlková, Helena
,
Druga, Rastislav
,
Poupětová, Helena
,
Košťálová, Eva
,
Mikuláštík, Josef
Published in
Acta neuropathologica
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Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease
by
Hůlková, Helena
,
Ledvinová, Jana
,
Kuchař, Ladislav
,
Šmíd, František
,
Honzíková, Jitka
,
Elleder, Milan
Published in
Glycobiology (Oxford)
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Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
by
Hůlková, Helena
,
Poupětová, Helena
,
Harzer, Klaus
,
Mistry, Pramod
,
Aerts, Johannes M. F. G
,
Elleder, Milan
Published in
Journal of inherited metabolic disease
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Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
by
Martins, Carla
,
Hůlková, Helena
,
Dridi, Larbi
,
Dormoy-Raclet, Virginie
,
Grigoryeva, Lubov
,
Choi, Yoo
,
Langford-Smith, Alexander
,
Wilkinson, Fiona L
,
Ohmi, Kazuhiro
,
DiCristo, Graziella
,
Hamel, Edith
,
Ausseil, Jerôme
,
Cheillan, David
,
Moreau, Alain
,
Svobodová, Eva
,
Hájková, Zuzana
,
Tesařová, Markéta
,
Hansíková, Hana
,
Bigger, Brian W
,
Hrebícek, Martin
,
Pshezhetsky, Alexey V
Published in
Brain (London, England : 1878)
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Replacement of [alpha]-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
by
Keslová-veselíková, Jana
,
Hlková, Helena
,
Dobrovolný, Robert
,
Asfaw, Befekadu
,
Pouptová, Helena
,
Berná, Linda
,
Sikora, Jakub
,
Golá, Lubor
,
Ledvinová, Jana
,
Elleder, Milan
Published in
Virchows Archiv : an international journal of pathology
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