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Quoted phrase not found in phrase index: "Autosomal recessive early-onset Parkinson disease 7"
Page 1
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium; Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR. Simón-Sánchez J, et al. PLoS One. 2012;7(3):e28787. doi: 10.1371/journal.pone.0028787. Epub 2012 Mar 12. PLoS One. 2012. PMID: 22427796 Free PMC article.
Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been identified. Early onset PD (EOPD) is particularly associated with autosomal recessive (AR) mutations, and three …
Parkinson's disease (PD) occurs in both familial and sporadic forms, and both monogenic and complex genetic factors have been …
Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.
Lorenzo-Betancor O, Lin YH, Samii A, Jayadev S, Kim HM, Longfellow K, Distad BJ, Yearout D, Mata IF, Zabetian CP. Lorenzo-Betancor O, et al. Parkinsonism Relat Disord. 2020 Nov;80:142-147. doi: 10.1016/j.parkreldis.2020.09.035. Epub 2020 Sep 22. Parkinsonism Relat Disord. 2020. PMID: 33002721 Free PMC article.
BACKGROUND: Mutations in the F-box protein 7 (FBXO7) gene result in autosomal recessive parkinsonism. This usually manifests as early-onset parkinsonian-pyramidal syndrome but patients exhibit high phenotypic variability. ...CONCLUSIONS: Our study expa …
BACKGROUND: Mutations in the F-box protein 7 (FBXO7) gene result in autosomal recessive parkinsonism. This usually manifests a …
BRCA1 degradation in response to mitochondrial damage in breast cancer cells.
Miyahara K, Takano N, Yamada Y, Kazama H, Tokuhisa M, Hino H, Fujita K, Barroga E, Hiramoto M, Handa H, Kuroda M, Ishikawa T, Miyazawa K. Miyahara K, et al. Sci Rep. 2021 Apr 22;11(1):8735. doi: 10.1038/s41598-021-87698-7. Sci Rep. 2021. PMID: 33888730 Free PMC article.
BRCA1 is a well-studied tumor suppressor involved in the homologous repair of DNA damage, whereas PINK1, a mitochondrial serine/threonine kinase, is known to be involved in mitochondrial quality control. Genetic mutations of PINK1 and Parkin cause autosomal recessive …
BRCA1 is a well-studied tumor suppressor involved in the homologous repair of DNA damage, whereas PINK1, a mitochondrial serine/threonine ki …
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Hague S, et al. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ-1 in 107 early-onset (age at diagnos …
Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutat …
A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.
Wang Z, Song Y, Zhu W, Wang X, Li X, Xu F, Si L, Yao T, Zhu J, Lai H, Li W, Lin F, Wang C. Wang Z, et al. Parkinsonism Relat Disord. 2021 Jul;88:62-67. doi: 10.1016/j.parkreldis.2021.06.005. Epub 2021 Jun 10. Parkinsonism Relat Disord. 2021. PMID: 34144229
BACKGROUND: Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's disease, which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). ...C …
BACKGROUND: Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's di …
A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease.
Sutherland G, Mellick G, Sue C, Chan DK, Rowe D, Silburn P, Halliday G. Sutherland G, et al. Neurosci Lett. 2007 Mar 6;414(2):170-3. doi: 10.1016/j.neulet.2006.12.051. Epub 2007 Jan 7. Neurosci Lett. 2007. PMID: 17280783
Mutations in the parkin gene are the major cause of autosomal recessive early-onset forms of Parkinson's disease (PD). As reduced parkin expression might also affect the clinical course of idiopathic PD we investigated the effect o …
Mutations in the parkin gene are the major cause of autosomal recessive early-onset forms of Parkinson's …
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799
METHODS: We identified two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. ...INTERPRETATION: We describe a mutation within the gene PRKRA that segregates with a novel, autosomal …
METHODS: We identified two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalis …
Computational study of human tyrosine hydroxylase mutants to uphold [4-(Propan-2-yl) Phenyl]Carbamic acid as a potential inhibitor.
Nawaz MS, Parveen Z, Wang L, Rashid S, Fatmi MQ, Kamal MA. Nawaz MS, et al. CNS Neurol Disord Drug Targets. 2014;13(7):1169-74. doi: 10.2174/1871527313666140917111905. CNS Neurol Disord Drug Targets. 2014. PMID: 25230230
Neurodegenerative diseases that afflict nervous system are characterized by progressive nervous system dysfunction and associated with the one-set of many diseases like Segawa's syndrome (recessive form), autosomal recessive L-dopa-responsive dystonia, L-dopa …
Neurodegenerative diseases that afflict nervous system are characterized by progressive nervous system dysfunction and associated with the o …
A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.
Muñoz E, Pastor P, Martí MJ, Oliva R, Tolosa E. Muñoz E, et al. Neurosci Lett. 2000 Jul 28;289(1):66-8. doi: 10.1016/s0304-3940(00)01248-9. Neurosci Lett. 2000. PMID: 10899410
We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism. Direct sequencing of the polymerase chain reaction (PCR) products showed a homozygous G deletion in the exon 7 (c.871delG) in one patient. ...Mutations in th …
We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism. Direct sequencing …