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1993 1
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2004 1
2005 1
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2010 1
2011 3
2012 2
2013 4
2014 4
2015 9
2016 4
2017 6
2018 10
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2020 13
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102 results

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Page 1
Heritable and non-heritable uncommon causes of stroke.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS. Bersano A, et al. J Neurol. 2021 Aug;268(8):2780-2807. doi: 10.1007/s00415-020-09836-x. Epub 2020 Apr 21. J Neurol. 2021. PMID: 32318851 Review.
The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. ...The identification of these stroke cause …
The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic …
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. Boy N, et al. J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17. J Inherit Metab Dis. 2023. PMID: 36221165 Free article.
This third revision of evidence-based recommendations aims to re-evaluate previous recommendations (Boy et al., J Inherit Metab Dis, 2017;40(1):75-101; Kolker et al., J Inherit Metab Dis 2011;34(3):677-694; Kolker et al., J Inherit Metab Dis, 2007;30(1):5-22) and to implem …
This third revision of evidence-based recommendations aims to re-evaluate previous recommendations (Boy et al., J Inherit Metab Dis, …
Open science datasets from PREVENT-AD, a longitudinal cohort of pre-symptomatic Alzheimer's disease.
Tremblay-Mercier J, Madjar C, Das S, Pichet Binette A, Dyke SOM, Étienne P, Lafaille-Magnan ME, Remz J, Bellec P, Louis Collins D, Natasha Rajah M, Bohbot V, Leoutsakos JM, Iturria-Medina Y, Kat J, Hoge RD, Gauthier S, Tardif CL, Mallar Chakravarty M, Poline JB, Rosa-Neto P, Evans AC, Villeneuve S, Poirier J, Breitner JCS; PREVENT-AD Research Group. Tremblay-Mercier J, et al. Neuroimage Clin. 2021;31:102733. doi: 10.1016/j.nicl.2021.102733. Epub 2021 Jun 17. Neuroimage Clin. 2021. PMID: 34192666 Free PMC article.
We describe the creation of an open science dataset from the PREVENT-AD (PResymptomatic EValuation of Experimental or Novel Treatments for AD) cohort, composed of cognitively unimpaired older individuals with a parental or multiple-sibling history of AD. ...
We describe the creation of an open science dataset from the PREVENT-AD (PResymptomatic EValuation of Experimental or N …
Neuroimaging Biomarkers in SCA2 Gene Carriers.
Mascalchi M, Vella A. Mascalchi M, et al. Int J Mol Sci. 2020 Feb 4;21(3):1020. doi: 10.3390/ijms21031020. Int J Mol Sci. 2020. PMID: 32033120 Free PMC article. Review.
A variety of Magnetic Resonance (MR) and nuclear medicine (NM) techniques have been used in symptomatic and presymptomatic SCA2 gene carriers to explore,in vivo, the physiopathological biomarkers of the neurological dysfunctions characterizing the associated progressive di …
A variety of Magnetic Resonance (MR) and nuclear medicine (NM) techniques have been used in symptomatic and presymptomatic SCA2 gene …
Spatial Extent of Amyloid-β Levels and Associations With Tau-PET and Cognition.
Ozlen H, Pichet Binette A, Köbe T, Meyer PF, Gonneaud J, St-Onge F, Provost K, Soucy JP, Rosa-Neto P, Breitner J, Poirier J, Villeneuve S; Alzheimer’s Disease Neuroimaging Initiative, the Harvard Aging Brain Study, the Presymptomatic Evaluation of Experimental or Novel Treatments for Alzheimer Disease Research Group. Ozlen H, et al. JAMA Neurol. 2022 Oct 1;79(10):1025-1035. doi: 10.1001/jamaneurol.2022.2442. JAMA Neurol. 2022. PMID: 35994280 Free PMC article.
DESIGN, SETTING, AND PARTICIPANTS: This longitudinal multicentric cohort study included 3 independent cohorts: Presymptomatic Evaluation of Experimental or Novel Treatments for Alzheimer Disease (PREVENT-AD) (data collected from 2012-2020), Alzheimer Disease …
DESIGN, SETTING, AND PARTICIPANTS: This longitudinal multicentric cohort study included 3 independent cohorts: Presymptomatic Eval …
Association of TLR4 with Alzheimer's disease risk and presymptomatic biomarkers of inflammation.
Miron J, Picard C, Lafaille-Magnan MÉ, Savard M, Labonté A, Breitner J, Rosa-Neto P, Auld D, Poirier J; PREVENT-AD research group. Miron J, et al. Alzheimers Dement. 2019 Jul;15(7):951-960. doi: 10.1016/j.jalz.2019.03.012. Epub 2019 Jun 4. Alzheimers Dement. 2019. PMID: 31175027
INTRODUCTION: A coding variant in the TLR4 receptor (rs4986790), previously associated with longevity and Alzheimer's disease (AD) risk reduction, was examined in a population isolate (Quebec Founder Population [QFP]) and in presymptomatic individuals with a parental histo …
INTRODUCTION: A coding variant in the TLR4 receptor (rs4986790), previously associated with longevity and Alzheimer's disease (AD) risk redu …
Presymptomatic detection of Parkinson's disease.
Jenner P. Jenner P. J Neural Transm Suppl. 1993;40:23-36. J Neural Transm Suppl. 1993. PMID: 8294898 Review.
Presymptomatic detection of Parkinson's disease is necessary if neuroprotective therapies are to be utilized in its treatment. Various methods (PET, electrophysiology, enzyme assays, olfactory function) may be applicable but none has been rigorously evaluated. Other …
Presymptomatic detection of Parkinson's disease is necessary if neuroprotective therapies are to be utilized in its treatment. Variou …
Planning Future Clinical Trials for Machado-Joseph Disease.
Saute JAM, Jardim LB. Saute JAM, et al. Adv Exp Med Biol. 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. Adv Exp Med Biol. 2018. PMID: 29427112 Review.
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG repeat expansion at ATXN3 gene. Only a few treatments were evaluated in randomized clinical trials (RCT) in SCA3/MJD …
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder …
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.
Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Lumpkin CJ, et al. Sci Rep. 2023 Jun 26;13(1):10374. doi: 10.1038/s41598-023-37496-0. Sci Rep. 2023. PMID: 37365234 Free PMC article.
AKT and GSK3beta phosphorylation were both significantly increased in SMNdelta7 SMA mouse spinal cords. In conclusion, presymptomatic administration of the HDAC inhibitor AR42 ameliorates the disease phenotype in SMNdelta7 SMA mice in a SMN-independent manner possibly by i …
AKT and GSK3beta phosphorylation were both significantly increased in SMNdelta7 SMA mouse spinal cords. In conclusion, presymptomatic …
Accelerated long-term forgetting in neurodegenerative disorders: A systematic review of the literature.
Rodini M, De Simone MS, Caltagirone C, Carlesimo GA. Rodini M, et al. Neurosci Biobehav Rev. 2022 Oct;141:104815. doi: 10.1016/j.neubiorev.2022.104815. Epub 2022 Aug 10. Neurosci Biobehav Rev. 2022. PMID: 35961382 Review.
The purpose of this review was to provide an overview of ALF occurrence in neurodegenerative disorders, evaluating whether it can be considered a cognitive deficit useful for diagnosing and monitoring patients. We included 19 experimental studies that investigated A …
The purpose of this review was to provide an overview of ALF occurrence in neurodegenerative disorders, evaluating whether it can be …
102 results