RT @thmonk_pf: コロンビアのPSEN1変異FAD大家系におけるAPOE3 Christchurch homozygoteの最初の報告 Familial Alzheimer's dieaseのpresenilin 1 (PSEN1) E280A mutationを…
コロンビアのPSEN1変異FAD大家系におけるAPOE3 Christchurch homozygoteの最初の報告 Familial Alzheimer's dieaseのpresenilin 1 (PSEN1) E280A mutationを持つが、APOE3 Christchurch (R136S) homozygoteであり70歳になっても認知機能は正常であり、tau蓄積が少なかった。 https://t.co/PfbTKOFgIj https://t.co/cXKW3mDZ8v
#sfn23 Naguib: PSEN1, PSEN2, APP - causative, early-onset AD genes. '2019 Arboleda-Velasque et al ApoE3 Christchurch is assoc'd with resilience against tau. https://t.co/LJZPtFoKOK Very low Tau, an amyloid-indep. protection.
Great point! In EOAD PET-study, amyloid precedes symptoms by 20 years: 30+ years of infusion seems intolerable AND it still might not block Tau ignition But double ApoE3-christchurch does: https://t.co/oZYi8J18Mc Tau Ignition theory supersedes Amyloid Cas
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age…https://t.co/AvKqne2m5y h
Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report https://t.co/BdQ46c4yFl
Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report https://t.co/iEmVEyYlpN
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
We identified a PSEN1 (presenilin 1) mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset @Nature
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @DrJoeArboleda: Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
Let’s end Alzheimer’s by studying cases with extreme protection https://t.co/jlwaSJMCvG https://t.co/JMkIHlOrQd
RT @doctorveera: This is the second case report of resilience to Alzheimer's in an individual with a PSEN mutation. The first case was a wo…
This is the second case report of resilience to Alzheimer's in an individual with a PSEN mutation. The first case was a woman in whom the protection was attributed to the homozygosity of a rare apo E3 missense variant. https://t.co/p0UgCAKxa3
His story is very similar to the individual from the Columbian kindred studied by @ytquiroz although he does not have a Christchurch mutation. https://t.co/7FbOKtl0XN
@_paigely @ytquiroz @ApostolovaLiana Dr. Quiroz this study says in EOAD, APOE ε3/ε3 were the youngest to see symptoms. Is this in contrast with your Colbos findings ? https://t.co/vBoqx98Afp thank you 🙏🏻
コロンビアのPSEN1変異FAD大家系におけるAPOE3 Christchurch homozygoteの最初の報告 https://t.co/TUE3FptaX2
RT @NatureMedicine: Despite elevated brain #amyloid pathology, a unique human case harboring a rare mutation in #APOE is reported by @ytqui…
3 yrs ago we published the case of a PSEN1 E280A carrier who resisted #Alzheimers. She was found to be a carrier of the rare APOE3 #Christchurch mutation 🧠. Now there are variant animal models, iPSC lines and antibodies under dvlpmt, and more. Sooo excitin
RT @AzucenaMS: Para saber más: -https://t.co/QTIbUvurzu -https://t.co/nnx0KyZtrj -https://t.co/NAnsrmkWhA -https://t.co/r254wYemyS
Para saber más: -https://t.co/QTIbUvurzu -https://t.co/nnx0KyZtrj -https://t.co/NAnsrmkWhA -https://t.co/r254wYemyS
RT @AndyBiotech: Why are some people resistant to #Alzheimer’s? https://t.co/HaPtnlxNFo Fascinating story on AD genetics! Homozygous APOE3…
And the @NatureMedicine paper from @ytquiroz, @MGH_RI @harvardmed, @MGHNeurology https://t.co/MXT0WFMeet
Neuro imaging studies on this patient revealed limited tau pathology and neurodegenerative changes despite high amyloid B plaque burden https://t.co/am0Q06sM0D
あるいはChristchurch変異のあるAPOE3を導入するとか。 https://t.co/j7XLjkpAJk
Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report | @NatureMedicine https://t.co/yrlqz2QSfp
This paper mentioned in the Boston Globe magazine today is very satisfying to me as someone who has been haunted by those UK biobank (I think?) mutations that should have caused disease but didn't https://t.co/U934Fcno1w
Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report. Nature Medicine 2019 https://t.co/6pYe6KOLR0
RT @AndyBiotech: Why are some people resistant to #Alzheimer’s? https://t.co/HaPtnlxNFo Fascinating story on AD genetics! Homozygous APOE3…
@macauleylab https://t.co/j9IPeA02Py. Makes the correlation that storage accumulation maybe not drive disease
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @dr_shibley: That was a tour de force phenomenal plenary lecture for #AAIC2020 by @ytquiroz to do with #ResistAlz #COLBOS. Easily the be…
RT @nfranzme: These findings are critical in two regards: 1) they show that ApoE3 christchurch may protect against AD dementia, 2) they sho…
RT @nihalsatyadev: Another key finding from @ytquiroz that highlights the importance of funding more research for #Alzheimers. #resistalz
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
RT @ResistAlz: In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s…
In our 1st article @NatureMedicine we reported a PSEN1 mutation carrier from Colombia who didn’t develop MCI until her 70s, 30 yrs after her expected age of clinical onset. She had two copies of the APOE3 Christchurch (R136S) mutation 👉🏼 #ResistAlz https
RT @dr_shibley: That was a tour de force phenomenal plenary lecture for #AAIC2020 by @ytquiroz to do with #ResistAlz #COLBOS. Easily the be…
RT @dr_shibley: That was a tour de force phenomenal plenary lecture for #AAIC2020 by @ytquiroz to do with #ResistAlz #COLBOS. Easily the be…
RT @DrNeuroChic: Thank you @ytquiroz for highlighting the importance that each individual study participant plays in advancing Alzheimer's…
RT @ytquiroz: So excited to share our latest work on #familial #Alzheimers!😊 A report published @NatureMedicine describes an individual who…
Congratulations to @ytquiroz and @sheilambrasil and to all team and colleagues involved for the brilliant work!! Your work is a true inspiration to young researchers!🧠🌎🇧🇷🇨🇴Paper links: https://t.co/TpxObyXJP8 https://t.co/Jbi8uvi9KA
RT @DrNeuroChic: Thank you @ytquiroz for highlighting the importance that each individual study participant plays in advancing Alzheimer's…
Grazie a chi partecipa ai protocolli e fa avanzare la conoscenza di un problema #everypartecipantsmatter #grazie
That was a tour de force phenomenal plenary lecture for #AAIC2020 by @ytquiroz to do with #ResistAlz #COLBOS. Easily the best programme I've ever seen on research in dementia. https://t.co/ruIrS7Pj2U @sharon_inouye https://t.co/fcnLZam3aZ
RT @DrNeuroChic: Thank you @ytquiroz for highlighting the importance that each individual study participant plays in advancing Alzheimer's…
Thank you @ytquiroz for highlighting the importance that each individual study participant plays in advancing Alzheimer's disease research. Such a well-deserved honor to recieve the Inge Grundke-Iqbal Award!!! https://t.co/1LOfQH53u0 https://t.co/EDEfjv8eI
RT @ytquiroz: So excited to share our latest work on #familial #Alzheimers!😊 A report published @NatureMedicine describes an individual who…
RT @ytquiroz: For those who asked, the Inge-Grundke-Iqbal Award for Alzheimer’s Research is presented to the senior author of the most impa…
RT @ytquiroz: For those who asked, the Inge-Grundke-Iqbal Award for Alzheimer’s Research is presented to the senior author of the most impa…
RT @ytquiroz: For those who asked, the Inge-Grundke-Iqbal Award for Alzheimer’s Research is presented to the senior author of the most impa…
For those who asked, the Inge-Grundke-Iqbal Award for Alzheimer’s Research is presented to the senior author of the most impactful study published in Alz research during the 2yrs preceding #AAIC. This is in recognition for our 2019 @NatureMedicine paper👉🏼
RT @ytquiroz: So excited to share our latest work on #familial #Alzheimers!😊 A report published @NatureMedicine describes an individual who…
Open Access UCL Research: Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report https://t.co/xpUuXunkO9
RT @ytquiroz: So excited to share our latest work on #familial #Alzheimers!😊 A report published @NatureMedicine describes an individual who…
RT @davidaguillon3: @UdeA @medicina_udea @DLarraneta @ElDesparche_ @elcolombiano El seguimiento de estas familias permitió descubrir una mu…
Journal Club Fri Mar 13 noon, seminar rm G13 Charles Shaw: Does a Colombian Woman Hold the Key to an Alzheimer’s Cure? https://t.co/4d1HrDYztL. Chris Brown: A CRISPR way to treat 400,000 babies/year? https://t.co/2mDjMBJZGY
RT @NatureMedicine: Despite elevated brain #amyloid pathology, a unique human case harboring a rare mutation in #APOE is reported by @ytqui…
RT @ytquiroz: So excited to share our latest work on #familial #Alzheimers!😊 A report published @NatureMedicine describes an individual who…
UNA ANCIANITA COLOMBIANA, PAISA, PARA DARLE ESPERANZA AL MUNDO QUE SUFRE..... https://t.co/2GfVc9p2IK
RT @markomanka: Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. https://t.co/zHefH…
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. https://t.co/zHefH5v2jE
IoN UCL PubMed: Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. https://t.co/aeb4LKBMYH
..... nowhere near this sort of effect sizes. Link to earlier case report:https://t.co/WAuceGSAnt 3/3 End
RT @AlbertoEspay: @EricTopol @NINDSdirector 1/4. The very high Amyloid-β in this woman with homozygous APOE3ch mutation correlated with nor…
RT @AlbertoEspay: @EricTopol @NINDSdirector 1/4. The very high Amyloid-β in this woman with homozygous APOE3ch mutation correlated with nor…
RT @AlbertoEspay: @EricTopol @NINDSdirector 1/4. The very high Amyloid-β in this woman with homozygous APOE3ch mutation correlated with nor…
RT @AlbertoEspay: @EricTopol @NINDSdirector 1/4. The very high Amyloid-β in this woman with homozygous APOE3ch mutation correlated with nor…
@EricTopol @NINDSdirector 1/4. The very high Amyloid-β in this woman with homozygous APOE3ch mutation correlated with normal hippocampal volume and high rather than low precuneus glucose hypometabolism –paradoxical to the amyloid hypothesis. https://t.co/A
RT @MGH_RI: Congrats to #MGRI @MGHNeurology researcher @ytquiroz for being featured on @altmetric's top 100 most discussed and shared paper…
RT @MGH_RI: Congrats to #MGRI @MGHNeurology researcher @ytquiroz for being featured on @altmetric's top 100 most discussed and shared paper…
RT @MGH_RI: Congrats to #MGRI @MGHNeurology researcher @ytquiroz for being featured on @altmetric's top 100 most discussed and shared paper…
Congrats to #MGRI @MGHNeurology researcher @ytquiroz for being featured on @altmetric's top 100 most discussed and shared papers of the year! Her #Alzheimers case report published in @NatureMedicine was featured in 3,286 tweets and 262 news stories! https:
RT @imatomirainoms: コロンビアのある集落で、アルツハイマー病遺伝子を持ちながら、認知症の進行が見られない女性が発見されたと報告がありました。 APOEというタンパクの遺伝子に珍しい変異があり、それが病気の進行を阻止している模様。 未だ混沌を極めるアルツハイマ…