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Quoted phrase not found in phrase index: "Autosomal recessive early-onset Parkinson disease 6"
Page 1
Superoxide dismutating molecules rescue the toxic effects of PINK1 and parkin loss.
Biosa A, Sanchez-Martinez A, Filograna R, Terriente-Felix A, Alam SM, Beltramini M, Bubacco L, Bisaglia M, Whitworth AJ. Biosa A, et al. Hum Mol Genet. 2018 May 1;27(9):1618-1629. doi: 10.1093/hmg/ddy069. Hum Mol Genet. 2018. PMID: 29529199 Free PMC article.
Accordingly, alterations in the redox state of cells and mitochondrial homeostasis are established hallmarks in both familial and sporadic Parkinson's disease cases. PINK1 and Parkin are two genes which account for a large fraction of autosomal recessive …
Accordingly, alterations in the redox state of cells and mitochondrial homeostasis are established hallmarks in both familial and sporadic …
PARK6-linked parkinsonism occurs in several European families.
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. ...However, features typical of autosomal recessive juvenile parkinsonism, including d …
The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sp …
Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism.
Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y. Matsumine H, et al. Neurology. 1998 May;50(5):1340-5. doi: 10.1212/wnl.50.5.1340. Neurology. 1998. PMID: 9595984 Clinical Trial.
Early onset parkinsonism with diurnal fluctuation (EPDF) is a dopa-responsive parkinsonism characterized by early onset and improvement of parkinsonian symptoms after sleep. ...Multipoint linkage analysis gave a peak lod score of 14.2 at 1.0 cM telomer …
Early onset parkinsonism with diurnal fluctuation (EPDF) is a dopa-responsive parkinsonism characterized by early on …
Parkin disease: a phenotypic study of a large case series.
Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N. Khan NL, et al. Brain. 2003 Jun;126(Pt 6):1279-92. doi: 10.1093/brain/awg142. Brain. 2003. PMID: 12764051
The clinical presentation of most cases was broadly comparable to that of previous descriptions of autosomal recessive early-onset or juvenile parkinsonism and young-onset Parkinson's disease and also had similarities with phenotyp …
The clinical presentation of most cases was broadly comparable to that of previous descriptions of autosomal recessive …
Novel P-TEN-induced putative kinase 1 (PINK1) variant in Indian Parkinson's disease patient.
Halder T, Raj J, Sharma V, Das P. Halder T, et al. Neurosci Lett. 2015 Sep 25;605:29-33. doi: 10.1016/j.neulet.2015.08.021. Epub 2015 Aug 14. Neurosci Lett. 2015. PMID: 26282903
Loss-of-function mutation in PINK1 is known for causing autosomal recessive early onset Parkinsonism accounting approximately 6.5% of PD cases. Recently, PINK1 has also been shown to cause Parkinson's disease (PD) in eastern India. …
Loss-of-function mutation in PINK1 is known for causing autosomal recessive early onset Parkinsonism accounting …
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, Filla A, Meco G, Brice A; Italian PD Genetics Study Group, French PD Genetics Study Group, European Consortium on Genetic Susceptibility in PD. Bonifati V, et al. Neurol Sci. 2001 Feb;22(1):51-2. doi: 10.1007/s100720170042. Neurol Sci. 2001. PMID: 11487197
Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset …
Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is …
Parkin deficiency exacerbate ethanol-induced dopaminergic neurodegeneration by P38 pathway dependent inhibition of autophagy and mitochondrial function.
Hwang CJ, Kim YE, Son DJ, Park MH, Choi DY, Park PH, Hellström M, Han SB, Oh KW, Park EK, Hong JT. Hwang CJ, et al. Redox Biol. 2017 Apr;11:456-468. doi: 10.1016/j.redox.2016.12.008. Epub 2016 Dec 8. Redox Biol. 2017. PMID: 28086194 Free PMC article.
Parkinson's disease (PD) is a neurodegenerative disease characterized by selective degeneration of dopaminergic neurons in the substantia nigra. Parkin (which encoded by Park2), an E3 ubiquitin ligase, is the most frequently mutated gene that has casually bee …
Parkinson's disease (PD) is a neurodegenerative disease characterized by selective degeneration of dopaminergic neurons …
Parkin mutation associated parkinsonism and cognitive decline, comparison to early onset Parkinson's disease.
Benbunan BR, Korczyn AD, Giladi N. Benbunan BR, et al. J Neural Transm (Vienna). 2004 Jan;111(1):47-57. doi: 10.1007/s00702-003-0079-6. Epub 2003 Dec 12. J Neural Transm (Vienna). 2004. PMID: 14714215
BACKGROUND: Patients with Parkinson's disease (PD) have cognitive changes resulting, presumably, from a progressive disruption of the functional integrity of frontostriatal circuitry. OBJECTIVE: To assess the cognitive state of two brothers with early onse …
BACKGROUND: Patients with Parkinson's disease (PD) have cognitive changes resulting, presumably, from a progressive disruption …