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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1996 1
1997 1
1998 2
1999 3
2000 2
2001 1
2004 1
2007 1
2008 1
2009 1
2010 3
2011 2
2012 1
2013 1
2014 1
2015 1
2018 1
2020 1
2021 2
2022 2
2024 0

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27 results

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Page 1
A Practical Approach to Early-Onset Parkinsonism.
Riboldi GM, Frattini E, Monfrini E, Frucht SJ, Di Fonzo A. Riboldi GM, et al. J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815. J Parkinsons Dis. 2022. PMID: 34569973 Free PMC article. Review.
Tetrahydrobiopterin biosynthesis, regeneration and functions.
Thöny B, Auerbach G, Blau N. Thöny B, et al. Biochem J. 2000 Apr 1;347 Pt 1(Pt 1):1-16. Biochem J. 2000. PMID: 10727395 Free PMC article. Review.
In the nervous system, BH(4) is a self-protecting factor for NO, or a general neuroprotecting factor via the NO synthase pathway, and has neurotransmitter-releasing function. With regard to human disease, BH(4) deficiency due to autosomal recessive mutations in all …
In the nervous system, BH(4) is a self-protecting factor for NO, or a general neuroprotecting factor via the NO synthase pathway, and has ne …
Hereditary progressive dystonia with marked diurnal fluctuation.
Segawa M. Segawa M. Brain Dev. 2011 Mar;33(3):195-201. doi: 10.1016/j.braindev.2010.10.015. Epub 2010 Nov 20. Brain Dev. 2011. PMID: 21094587 Review.
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a dopa-responsive dystonia, now called autosomal dominant GTP cyclohydrolase 1 deficiency or Segawa disease, caused by mutation of the GCH-1 gene located on 14q22.1 to q22.2. ...
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a dopa-responsive dystonia, now called auto
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thöny B, Blau N. Thöny B, et al. Hum Mutat. 1997;10(1):11-20. doi: 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. Hum Mutat. 1997. PMID: 9222755 Review.
Only three mutations, two present homozygously, are reported in the GTP cyclohydrolase I gene to cause the rare autosomal recessively inherited form of hyperphenylalaninemia. Most of the other mutations, which are scattered over the entire coding region for the six …
Only three mutations, two present homozygously, are reported in the GTP cyclohydrolase I gene to cause the rare autosomal recessiv
Dopa-responsive dystonia.
Segawa M. Segawa M. Handb Clin Neurol. 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2. Handb Clin Neurol. 2011. PMID: 21496606 Review.
Clinical characteristics and pahophysiologies of dopa-responsive dystonia are discussed by reviewing autosomal-dominant GTP cyclohydrolase-I deficiency (AD GCHI D), recessive deficiencies of enzymes of pteridine metabolism, and recessive
Clinical characteristics and pahophysiologies of dopa-responsive dystonia are discussed by reviewing autosomal-d …
Monoamine neurotransmitter deficiencies.
Pearl PL. Pearl PL. Handb Clin Neurol. 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. Handb Clin Neurol. 2013. PMID: 23622404 Review.
Some disorders do not manifest peripheral hyperphenyalaninemia and require CSF neurotransmitter metabolite assay for diagnosis. These include Segawa dopa-responsive dystonia and enzymatic deficiencies of aromatic amino acid decarboxylase, tyrosine hydroxylase …
Some disorders do not manifest peripheral hyperphenyalaninemia and require CSF neurotransmitter metabolite assay for diagnosis. These includ …
[Biopterin and child neurologic disease].
Shintaku H. Shintaku H. No To Hattatsu. 2009 Jan;41(1):5-10. No To Hattatsu. 2009. PMID: 19172809 Review. Japanese.
BH4 deficiency without treatment causes combined symptoms of HPA and neurotransmitter (dopamine, norepinephrine, epinephrine, and serotonin) deficiency, such as red hair, psychomotor retardation, and progressive neurological deterioration. However, autosomal dominant GTPCH …
BH4 deficiency without treatment causes combined symptoms of HPA and neurotransmitter (dopamine, norepinephrine, epinephrine, and serotonin) …
Dopa-responsive dystonia.
Nygaard TG. Nygaard TG. Curr Opin Neurol. 1995 Aug;8(4):310-3. doi: 10.1097/00019052-199508000-00011. Curr Opin Neurol. 1995. PMID: 7582048 Review.
Pathophysiological investigations have revealed features that distinguish dopa-responsive dystonia from childhood-onset parkinsonism. A pathological study has confirmed the 'developmental' nature of the disease. Finally, mutations causing the autosomal
Pathophysiological investigations have revealed features that distinguish dopa-responsive dystonia from childhood-onset …
Dystonia-plus syndromes.
Asmus F, Gasser T. Asmus F, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Eur J Neurol. 2010. PMID: 20590807 Review.
At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mostly pediatric-onset, neurometabolic disorder with two different modes of inheritance: in its autosomal-dominant form, heterozygous mu …
At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mos …
27 results