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Page 1
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
Mol Genet Metab. 2017 Mar;120(3):278-287. doi: 10.1016/j.ymgme.2016.11.004. Epub 2016 Dec 27.
Mol Genet Metab. 2017.
PMID: 28034613
No abstract available.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Ng J, Cortès-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, García-Cazorla À, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E, Kurian MA.
Ng J, et al. Among authors: csanyi b.
Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30.
Mov Disord. 2020.
PMID: 32472658
Free PMC article.
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Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.
Iwan K, Clayton R, Mills P, Csanyi B, Gissen P, Mole SE, Palmer DN, Mills K, Heywood WE.
Iwan K, et al. Among authors: csanyi b.
iScience. 2020 Dec 31;24(2):102020. doi: 10.1016/j.isci.2020.102020. eCollection 2021 Feb 19.
iScience. 2020.
PMID: 33532713
Free PMC article.
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Study of Intraventricular Cerliponase Alfa for CLN2 Disease.
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschütter A; CLN2 Study Group.
Schulz A, et al.
N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
N Engl J Med. 2018.
PMID: 29688815
Free article.
Clinical Trial.
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Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
Sivananthan S, Lee L, Anderson G, Csanyi B, Williams R, Gissen P.
Sivananthan S, et al. Among authors: csanyi b.
Brain Sci. 2023 Jan 27;13(2):209. doi: 10.3390/brainsci13020209.
Brain Sci. 2023.
PMID: 36831752
Free PMC article.
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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S.
Ebberink MS, et al. Among authors: csanyi b.
J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20.
J Med Genet. 2010.
PMID: 20647552
Free article.
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