Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Results by year

Filters applied: . Clear all
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.
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 …
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K. Weissbach A, et al. Mov Disord. 2022 Feb;37(2):237-252. doi: 10.1002/mds.28874. Epub 2021 Dec 15. Mov Disord. 2022. PMID: 34908184 Review.
BACKGROUND: Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- a …
BACKGROUND: Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recyclin …
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 …
Diagnosing dopamine-responsive dystonias.
Malek N, Fletcher N, Newman E. Malek N, et al. Pract Neurol. 2015 Oct;15(5):340-5. doi: 10.1136/practneurol-2015-001101. Epub 2015 Jun 4. Pract Neurol. 2015. PMID: 26045581 Review.
The clinical spectrum of dopamine-responsive dystonias (DRDs) has expanded over the last decade to comprise several distinct disorders. At the milder end of the clinical spectrum is the autosomal-dominant guanosine triphosphate cyclohydrolase deficiency syndrome (GTPCH-DRD …
The clinical spectrum of dopamine-responsive dystonias (DRDs) has expanded over the last decade to comprise several distinct disorders. At t …
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 …
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 …
Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.
Dong HY, Feng JY, Yue XJ, Shan L, Jia FY. Dong HY, et al. Medicine (Baltimore). 2020 Aug 14;99(33):e21753. doi: 10.1097/MD.0000000000021753. Medicine (Baltimore). 2020. PMID: 32872068 Free PMC article. Review.
RATIONAL: Tyrosine hydroxylase deficiency (THD) is a rare cause of dopa-responsive dystonia (DRD). Although the symptoms of DRD may be improved by treatment with L-dopa, the low morbidity of THD can lead to its misdiagnosis. ...The younger daughter, at age 3. …
RATIONAL: Tyrosine hydroxylase deficiency (THD) is a rare cause of dopa-responsive dystonia (DRD). Although the symptom …
Segawa's disease: dopa-responsive dystonia.
Gordon N. Gordon N. Int J Clin Pract. 2008 Jun;62(6):943-6. doi: 10.1111/j.1742-1241.2007.01319.x. Epub 2007 Oct 29. Int J Clin Pract. 2008. PMID: 17971156 Review.
The latter can show considerable variation, especially if the onset of the condition is delayed. It is usually of autosomal dominant inheritance, but a recessive form can occur. The dominant and recessive forms are caused by a gene mapped to chromosome 14. .. …
The latter can show considerable variation, especially if the onset of the condition is delayed. It is usually of autosomal dominant …
What is new for monoamine neurotransmitter disorders?
Marecos C, Ng J, Kurian MA. Marecos C, et al. J Inherit Metab Dis. 2014 Jul;37(4):619-26. doi: 10.1007/s10545-014-9697-4. Epub 2014 Apr 3. J Inherit Metab Dis. 2014. PMID: 24696406 Review.
27 results