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Quoted phrase not found in phrase index: "Parkinson disease 5, autosomal dominant, susceptibility to"
Page 1
Molecular genetics of dopa-responsive dystonia.
Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T. Ichinose H, et al. 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 …
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) …