Helena Jahnová

Medicine · Health Sciences

10h-index772citations27works1.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(19), Autoimmune and Inflammatory Disorders Research(10), Cellular transport and secretion(4), Carbohydrate Chemistry and Synthesis(4), Family and Disability Support Research(4)

Publications27 total

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
Molecular Genetics and Metabolism·2024· 1 cited
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset <scp>Tay‐Sachs</scp> disease
Journal of Inherited Metabolic Disease·2023· 4 citedOpen Access
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
Frontiers in Medicine·2023· 5 citedOpen Access
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Orphanet Journal of Rare Diseases·2022· 36 citedOpen Access
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Genes·2021Open Access
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease
Neurological Sciences·2021· 6 cited
Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)
2021· 5 citedOpen Access
X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.
PubMed·2021· 10 cited
Extremely low birthweight neonates with phenylketonuria require special dietary management
Acta Paediatrica·2021· 4 cited
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
Movement Disorders Clinical Practice·2020· 5 citedOpen Access
Role of novel laboratory techniques in Niemann-Pick type C disease diagnostics
Česká a slovenská neurologie a neurochirurgie·2020
Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study
Journal of Inherited Metabolic Disease·2020· 64 citedOpen Access
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
Orphanet Journal of Rare Diseases·2020· 10 citedOpen Access
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Research Square (Research Square)·2020Open Access
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
2019· 1 citedOpen Access
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
Journal of Neurology·2019· 26 cited
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
Analytical Biochemistry·2017· 68 cited
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Molecular Genetics and Metabolism·2016· 97 citedOpen Access
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
BMC Pediatrics·2016· 29 citedOpen Access
Interdisciplinary approach to diagnosing adult-onset Niemann–Pick disease type C
Basal Ganglia·2016
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Frequent Co-authors

Lenka Dvořáková(8), Helena Hůlková(7), Helena Poupětová(7), Hana Vlášková(6), Marie T. Vanier(6), Martin Hřebı́ček(5), Pavel Ješina(5), Ladislav Kuchař(5), J. Ledvinová(5), Jackie Imrie(5), Sara Mole(4), Jakub Sikora(4), Befekadu Asfaw(4), Martin Magner(4), Martin Řeboun(4), Dita Mušálková(4), Filip Majer(4), Marc C. Patterson(3), Bénédicte Héron(3), M. Pineda(3)