Výsledky vyhledávání - "Helena Jahnová"

Akademický článek

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

Publikováno v: Frontiers in Medicine, Vol 10 (2023)

IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney diseas

Externí odkaz: https://doaj.org/article/a61fd3b445844401ac3d8d045e9d77aa

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Akademický článek

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

Autor: Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

Abstract Background Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To

Externí odkaz: https://doaj.org/article/031fa5ce876346a8afddbb9efd991352

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Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

Autor: Martin Magner, Igor Nestrasil, Helena Jahnová, Anita Hennig, Petr Dusek, Jitka Majovska, Susanne A. Schneider, Manuela Vaněčková

Publikováno v: Neurological Sciences. 43:3273-3281

Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42673cbfdeee817f1c4b51f8924c337
https://doi.org/10.1007/s10072-021-05757-3

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Extremely low birthweight neonates with phenylketonuria require special dietary management

Autor: Marketa Zemanova, Petra Sanakova, Petr Chrastina, Helena Jahnová, Barbara Tesarova, Jiri Zeman, Lucie Prochazkova, Dagmar Procházková, Vaclav Sebron

Publikováno v: Acta Paediatrica. 110:2994-2999

AIM Extremely low birthweight (ELBW) neonates require a high protein intake, but this can be challenging in the very rare cases when they also have phenylketonuria (PKU). This is due to a lack of suitable parenteral nutrition or enteral formula. Our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c923d521d1fa09e25531284b7c774462
https://doi.org/10.1111/apa.16035

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Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

Autor: Bénédicte Héron, Marie T. Vanier, Marc C. Patterson, Robert Giugliani, Daniel W. Rosenberg, William S. Garver, Jackie Imrie, Olivier Morand, Yann Nadjar, Patrick Moneuse, F. John Meaney, Barbara Schwierin, Helena Jahnová

Publikováno v: Journal of Inherited Metabolic Disease

Miglustat has been indicated for the treatment of Niemann‐Pick disease type C (NP‐C) since 2009. The aim of this observational study was to assess the effect of miglustat on long‐term survival of patients with NP‐C. Data for 789 patients from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ee288721a12870f8e8b8e36c245ac0
https://doi.org/10.1002/jimd.12245

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Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Autor: Marketa Tesarova, Pavlina Skalicka, Alice E. Davidson, Nicole Anteneova, Amanda N. Sadan, Monika Chylova, Petra Liskova, Tomas Honzik, Helena Jahnová, Lubica Dudakova

Publikováno v: Genes
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d48a28a48120fe9803677edafea4ada
http://europepmc.org/articles/PMC8702069

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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

Autor: Jitka Jireckova, Radim Mazanec, Alena Zumrová, Helena Poupětová, Eva Košťálová, Martin Magner, Hana Vlaskova, Petr Mečíř, Zuzana Musova, Helena Jahnová

Publikováno v: Journal of Neurology. 266:1953-1959

Tay–Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80844c089d6efacd0aa328935b019340
https://doi.org/10.1007/s00415-019-09364-3

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