Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2009 | 1 |
2014 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Parkinson disease 5, autosomal dominant, susceptibility to"
Page 1
Molecular genetics of dopa-responsive dystonia.
Biol Chem. 1999 Dec;380(12):1355-64. doi: 10.1515/BC.1999.175.
Biol Chem. 1999.
PMID: 10661862
Review.
The causative genes of two types of hereditary dopa-responsive dystonia (DRD) due to dopamine (DA) deficiency in the nigrostriatum DA neurons have been elucidated. Autosomal dominant DRD (AD-DRD) was originally described by Segawa as hereditary progressive dystonia …
The causative genes of two types of hereditary dopa-responsive dystonia (DRD) due to dopamine (DA) deficiency in the nigrostriatum DA neuron …
Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome.
Young JE, Vilariño-Güell C, Lin SC, Wszolek ZK, Farrer MJ.
Young JE, et al.
Mayo Clin Proc. 2009 Feb;84(2):134-8. doi: 10.4065/84.2.134.
Mayo Clin Proc. 2009.
PMID: 19181647
Free PMC article.
RESULTS: The family tree spans 7 generations with 88 living members, 30 of whom meet the criteria for diagnosis of RLS established by the International Restless Legs Syndrome Study Group. Three affected family members also have Parkinson disease or essential tremor. …
RESULTS: The family tree spans 7 generations with 88 living members, 30 of whom meet the criteria for diagnosis of RLS established by the In …
Item in Clipboard
Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases.
Sciacca P, Giacchi V, Mattia C, Greco F, Smilari P, Betta P, Distefano G.
Sciacca P, et al.
BMC Cardiovasc Disord. 2014 May 9;14:66. doi: 10.1186/1471-2261-14-66.
BMC Cardiovasc Disord. 2014.
PMID: 24884933
Free PMC article.
Typically rhabdomyomas are multiple lesions and usually regress spontaneously but are often associated with tuberous sclerosis complex (TSC), an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2. ...We performed ech …
Typically rhabdomyomas are multiple lesions and usually regress spontaneously but are often associated with tuberous sclerosis complex (TSC) …
Item in Clipboard
Cite
Cite