PAPER Mignarri A, Battistini S, Tomai Pitinca ML, Monti L, Burroni L, Ginanneschi F, Ricci C, Bavazzano A, Federico A, Restagno G, Dotti MT
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329930 RESULTS
PAPER Butland SL, Sanders SS, Schmidt ME, Riechers SP, Lin DT, Martin DD, Vaid K, Graham RK, Singaraja RR, Wanker EE, Conibear E, Hayden MR
The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
Hum Mol Genet. 2014 Aug 1;23(15):4142-60. Epub 2014 Apr 4 PubMed: 24705354PAPER Wan W, Stubbs G
Fungal prion HET-s as a model for structural complexity and self-propagation in prions.
Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5201-6. Epub 2014 Mar 24 PubMed: 24706820PAPER Parashos SA, Luo S, Biglan KM, Bodis-Wollner I, He B, Liang GS, Ross GW, Tilley BC, Shulman LM, NET-PD Investigators
Measuring disease progression in early Parkinson disease: the National Institutes of Health Exploratory Trials in Parkinson Disease (NET-PD) experience.
JAMA Neurol. 2014 Jun;71(6):710-6. PubMed: 24711047PAPER Schwarz ST, Afzal M, Morgan PS, Bajaj N, Gowland PA, Auer DP
The 'swallow tail' appearance of the healthy nigrosome- a new accurate test of Parkinson's disease: a case-control and retrospective cross-sectional MRI study at 3T.
PLoS One. 2014;9(4):e93814. Epub 2014 Apr 7 PubMed: 24710392PAPER Yu X, Wang F, Zhang JP
Meta analysis of the association of rs7702187 SNP in SEMA5A gene with risk of Parkinson's disease.
Eur Rev Med Pharmacol Sci. 2014;18(6):900-4. PubMed: 24706317PAPER Ferguson MC, Nayyar T, Ansah TA
Reverse microdialysis of a 5-HT2A receptor antagonist alters extracellular glutamate levels in the striatum of the MPTP mouse model of Parkinson's disease.
Neurochem Int. 2014 May;71:36-46. Epub 2014 Apr 4 PubMed: 24704796PAPER Crespo-Biel N, Theunis C, Borghgraef P, Lechat B, Devijver H, Maurin H, Van Leuven F
Phosphorylation of protein Tau by GSK3β prolongs survival of bigenic Tau.P301L×GSK3β mice by delaying brainstem tauopathy.
Neurobiol Dis. 2014 Jul;67:119-32. Epub 2014 Apr 2 PubMed: 24704314Judith Ewens
United States
PSEN1 F105C
MUTATIONS PSEN1 73637731 GRCh37/hg19 T G Exon 4 Point, Missense Coding Decreased Aβ (37 + 38 + 40) / (42 + 43) ratio. Unknown; neuroimaging showed enlarged ventricles and atrophy in the hippocampus and frontotemporal regions. F105C Alzheimer's Disease: Pathoge
PSEN1 L248P
MUTATIONS PSEN1 73659546 GRCh37/hg19 T C Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. Unknown. L248P Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a family from mainlan
PSEN1 I168del (TTAdel)
MUTATIONS PSEN1 73653580_73653582 GRCh37/hg19 TTA--- Exon 6 Deletion Coding Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (nucleotide change unspecified). Unknown. I168del (TTAdel) Alzheimer's Disease: PathogenicAlzheimer'
PSEN1 A434T
MUTATIONS PSEN1 73685893 GRCh37/hg19 G A Exon 12 Point, Missense Coding Unknown; predicted damaging in silico. Unknown. A434T Alzheimer's Disease: PathogenicAlzheimer's Disease, Parkinsonism This mutation was detected in a Chinese family with a history of
Mike Novak
shingle springs , United States
Firas Zekri
Sfax, Tunisia
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