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Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6.
J Med Genet. 2019.
PMID: 30842224
Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
Segawa M, Nomura Y, Yukishita S, Nishiyama N, Yokochi M.
Segawa M, et al. Among authors: yukishita s.
Adv Neurol. 2004;94:217-23.
Adv Neurol. 2004.
PMID: 14509676
No abstract available.
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Dystonias responding to levodopa and failure in biopterin metabolism.
Nomura Y, Uetake K, Yukishita S, Hagiwara H, Tanaka T, Tanaka R, Hachimori K, Nishiyama N, Segawa M.
Nomura Y, et al. Among authors: yukishita s.
Adv Neurol. 1998;78:253-66.
Adv Neurol. 1998.
PMID: 9750922
No abstract available.
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Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.
Nishiyama N, Yukishita S, Hagiwara H, Kakimoto S, Nomura Y, Segawa M.
Nishiyama N, et al. Among authors: yukishita s.
Brain Dev. 2000 Sep;22 Suppl 1:S102-6. doi: 10.1016/s0387-7604(00)00152-2.
Brain Dev. 2000.
PMID: 10984668
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