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Quoted phrase not found in phrase index: "Autosomal dominant Parkinson disease 1"
Page 1
Mitochondria and Parkinson's Disease: Clinical, Molecular, and Translational Aspects.
Borsche M, Pereira SL, Klein C, Grünewald A. Borsche M, et al. J Parkinsons Dis. 2021;11(1):45-60. doi: 10.3233/JPD-201981. J Parkinsons Dis. 2021. PMID: 33074190 Free PMC article. Review.
Mitochondrial dysfunction represents a well-established player in the pathogenesis of both monogenic and idiopathic Parkinson's disease (PD). Initially originating from the observation that mitochondrial toxins cause PD, findings from genetic PD supported a c …
Mitochondrial dysfunction represents a well-established player in the pathogenesis of both monogenic and idiopathic Parkinson's di …
Parkinson's disease - genetic cause.
Cherian A, K P D, Vijayaraghavan A. Cherian A, et al. Curr Opin Neurol. 2023 Aug 1;36(4):292-301. doi: 10.1097/WCO.0000000000001167. Epub 2023 May 24. Curr Opin Neurol. 2023. PMID: 37366140 Review.
About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal dominant genes (e.g. SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. PRKN, PINK1, DJ-1) can cause genetic P …
About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal …
LRRK2 in Parkinson disease: challenges of clinical trials.
Tolosa E, Vila M, Klein C, Rascol O. Tolosa E, et al. Nat Rev Neurol. 2020 Feb;16(2):97-107. doi: 10.1038/s41582-019-0301-2. Epub 2020 Jan 24. Nat Rev Neurol. 2020. PMID: 31980808 Review.
One of the most common monogenic forms of Parkinson disease (PD) is caused by mutations in the LRRK2 gene that encodes leucine-rich repeat kinase 2 (LRRK2). LRRK2 mutations, and particularly the most common mutation Gly2019Ser, are observed in patients with …
One of the most common monogenic forms of Parkinson disease (PD) is caused by mutations in the LRRK2 gene that encodes leucine …
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. ...Variants in this gene have been previously shown to be associat …
The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, a …
Genetics of Parkinson's disease.
Lill CM. Lill CM. Mol Cell Probes. 2016 Dec;30(6):386-396. doi: 10.1016/j.mcp.2016.11.001. Epub 2016 Nov 4. Mol Cell Probes. 2016. PMID: 27818248 Review.
Almost two decades after the identification of SNCA as the first causative gene in Parkinson's disease (PD) and the subsequent understanding that genetic factors play a substantial role in PD development, our knowledge of the genetic architecture underlying this …
Almost two decades after the identification of SNCA as the first causative gene in Parkinson's disease (PD) and the subsequent …
Plasma inflammation for predicting phenotypic conversion and clinical progression of autosomal dominant frontotemporal lobar degeneration.
Asken BM, Ljubenkov PA, Staffaroni AM, Casaletto KB, Vandevrede L, Cobigo Y, Rojas-Rodriguez JC, Rankin KP, Kornak J, Heuer H, Shigenaga J, Appleby BS, Bozoki AC, Domoto-Reilly K, Ghoshal N, Huey E, Litvan I, Masdeu JC, Mendez MF, Pascual B, Pressman P, Tartaglia MC, Kremers W, Forsberg LK, Boeve BF, Boxer AL, Rosen HJ, Kramer JH; ALLFTD Consortium Investigators. Asken BM, et al. J Neurol Neurosurg Psychiatry. 2023 Jul;94(7):541-549. doi: 10.1136/jnnp-2022-330866. Epub 2023 Mar 28. J Neurol Neurosurg Psychiatry. 2023. PMID: 36977552 Free PMC article.
BACKGROUND: Measuring systemic inflammatory markers may improve clinical prognosis and help identify targetable pathways for treatment in patients with autosomal dominant forms of frontotemporal lobar degeneration (FTLD). ...TNFalpha was higher in asymptomatic conve …
BACKGROUND: Measuring systemic inflammatory markers may improve clinical prognosis and help identify targetable pathways for treatment in pa …
Juvenile-Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review.
Bakels HS, Roos RAC, van Roon-Mom WMC, de Bot ST. Bakels HS, et al. Mov Disord. 2022 Jan;37(1):16-24. doi: 10.1002/mds.28823. Epub 2021 Oct 12. Mov Disord. 2022. PMID: 34636452 Free PMC article. Review.
Huntington disease is an autosomal dominant inherited brain disorder that typically becomes manifest in adulthood. ...Juvenile-onset patients have distinct symptoms and signs with more severe pathology of involved brain structures in comparison with diseas …
Huntington disease is an autosomal dominant inherited brain disorder that typically becomes manifest in adulthood. ...J …
Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.
Kim J, Daadi EW, Oh T, Daadi ES, Daadi MM. Kim J, et al. Genes (Basel). 2022 Oct 25;13(11):1937. doi: 10.3390/genes13111937. Genes (Basel). 2022. PMID: 36360174 Free PMC article. Review.
Parkinson's disease (PD) is primarily idiopathic and a highly heterogenous neurodegenerative disease with patients experiencing a wide array of motor and non-motor symptoms. ...While the cause of PD is still largely unknown, genome-wide association studies pr …
Parkinson's disease (PD) is primarily idiopathic and a highly heterogenous neurodegenerative disease with patients expe …
Emerging cerebrospinal fluid biomarkers in autosomal dominant Alzheimer's disease.
Schindler SE, Li Y, Todd KW, Herries EM, Henson RL, Gray JD, Wang G, Graham DL, Shaw LM, Trojanowski JQ, Hassenstab JJ, Benzinger TLS, Cruchaga C, Jucker M, Levin J, Chhatwal JP, Noble JM, Ringman JM, Graff-Radford NR, Holtzman DM, Ladenson JH, Morris JC, Bateman RJ, Xiong C, Fagan AM; Dominantly Inherited Alzheimer Network. Schindler SE, et al. Alzheimers Dement. 2019 May;15(5):655-665. doi: 10.1016/j.jalz.2018.12.019. Epub 2019 Mar 4. Alzheimers Dement. 2019. PMID: 30846386 Free PMC article.
INTRODUCTION: Four less well-studied but promising "emerging" cerebrospinal fluid (CSF) biomarkers are elevated in late-onset Alzheimer disease (AD): neurogranin, synaptosomal-associated protein-25 (SNAP-25), visinin-like protein 1 (VILIP-1), and chitinase-3- …
INTRODUCTION: Four less well-studied but promising "emerging" cerebrospinal fluid (CSF) biomarkers are elevated in late-onset Alzheimer d …
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease.
Vöglein J, Paumier K, Jucker M, Preische O, McDade E, Hassenstab J, Benzinger TL, Noble JM, Berman SB, Graff-Radford NR, Ghetti B, Farlow MR, Chhatwal J, Salloway S, Xiong C, Karch CM, Cairns N, Mori H, Schofield PR, Masters CL, Goate A, Buckles V, Fox N, Rossor M, Chrem P, Allegri R, Ringman JM, Höglinger G, Steiner H, Dieterich M, Haass C, Laske C, Morris JC, Bateman RJ, Danek A, Levin J; Dominantly Inherited Alzheimer Network. Vöglein J, et al. Brain. 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050. Brain. 2019. PMID: 30897203 Free PMC article.
Owing to an early and marked deposition of amyloid-beta in the basal ganglia, autosomal dominant Alzheimer's disease could distinctly involve motor symptoms. Therefore, we aimed to assess the prevalence and characteristics of motor signs in autosomal …
Owing to an early and marked deposition of amyloid-beta in the basal ganglia, autosomal dominant Alzheimer's disease co …
130 results