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  1. Book ; Online ; E-Book: Neurogenetics / Part II

    Geschwind, Daniel H. / Paulson, Henry L. / Klein, Christine

    (Handbook of clinical neurology ; volume 148)

    2018  

    Author's details volume editors Daniel H. Geschwind, Henry L. Paulson, and Christine Klein
    Series title Handbook of clinical neurology ; volume 148
    Neurogenetics
    Collection Neurogenetics
    Language English
    Size 1 Online-Ressource (xx, Seite 396-826, I-23)
    Publishing country Netherlands
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT019670579
    ISBN 978-0-444-64077-2 ; 9780444640765 ; 0-444-64077-0 ; 0444640762
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book ; Online ; E-Book: Neurogenetics / Part I

    Geschwind, Daniel H. / Paulson, Henry L. / Klein, Christine

    (Handbook of clinical neurology ; 147)

    2018  

    Author's details volume editors Daniel H. Geschwind, Henry L. Paulson, and Christine Klein
    Series title Handbook of clinical neurology ; 147
    Neurogenetics
    Collection Neurogenetics
    Language English
    Size 1 Online-Ressource (xix, 391, I-23 Seiten), Illustrationen
    Publishing country Netherlands
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT019670536
    ISBN 978-0-444-63235-7 ; 9780444632333 ; 0-444-63235-2 ; 0444632336
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  3. Book ; Online: Neurogenetics

    Geschwind, Daniel H. / Paulson, Henry L. / Klein, Christine

    (Handbook of clinical neurology ; ...)

    2018  

    Author's details volume editors Daniel H. Geschwind, Henry L. Paulson, and Christine Klein
    Series title Handbook of clinical neurology
    ...
    Keywords Nervous System Diseases / genetics ; Genetic Diseases, Inborn ; Neurodevelopmental Disorders / genetics ; Genetics, Medical / methods ; Genetic Testing ; Neurogenetics
    Subject code 612.8
    Language English
    Dates of publication 2018-2018
    Size Online-Ressource
    Publisher Elsevier
    Publishing place Amsterdam
    Publishing country Netherlands
    Document type Book ; Online
    HBZ-ID HT019670526
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  4. Article ; Online: Lessons Learned from Approval of Aducanumab for Alzheimer's Disease.

    Heidebrink, Judith L / Paulson, Henry L

    Annual review of medicine

    2024  Volume 75, Page(s) 99–111

    Abstract: When the US Food and Drug Administration used the accelerated approval process to authorize the use of the antiamyloid drug aducanumab to treat Alzheimer's disease (AD), many people hoped this signaled a new era of disease-modifying treatment. But 2 ... ...

    Abstract When the US Food and Drug Administration used the accelerated approval process to authorize the use of the antiamyloid drug aducanumab to treat Alzheimer's disease (AD), many people hoped this signaled a new era of disease-modifying treatment. But 2 years later, aducanumab's failure to launch provides a cautionary tale about the complexities of dementia and the need for a thorough and transparent review of the role that regulatory agencies and various stakeholders play in approving AD drugs. We highlight the events leading to aducanumab's controversial approval and discuss some of the key lessons learned from the drug's failure to deliver the hoped-for benefits. These lessons include the inherent limitations of antiamyloid strategies for a complex disease in which amyloid is only one of several pathological processes, the need for clinical trials that better reflect the diversity of communities affected by AD, the potential pitfalls of futility analyses in clinical trials, the need for greater transparency and other modifications to the approval process, and the dementia field's unreadiness to move from the highly controlled environment of clinical trials to the widespread and chronic use of resource-intensive, disease-modifying drugs in real-world treatment scenarios. People with dementia desperately need effective therapies. We hope that the aducanumab story will inspire changes to the approval process-changes that restore public trust and improve future efforts to deliver disease-modifying therapies to the clinic.
    MeSH term(s) United States ; Humans ; Alzheimer Disease/drug therapy ; Amyloidogenic Proteins ; Antibodies, Monoclonal, Humanized/therapeutic use ; United States Food and Drug Administration ; Amyloid beta-Peptides
    Chemical Substances aducanumab (105J35OE21) ; Amyloidogenic Proteins ; Antibodies, Monoclonal, Humanized ; Amyloid beta-Peptides
    Language English
    Publishing date 2024-01-24
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 207930-6
    ISSN 1545-326X ; 0066-4219
    ISSN (online) 1545-326X
    ISSN 0066-4219
    DOI 10.1146/annurev-med-051022-043645
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Regional and age-dependent changes in ubiquitination in cellular and mouse models of Spinocerebellar ataxia type 3.

    Luo, Haiyang / Todi, Sokol V / Paulson, Henry L / Costa, Maria do Carmo

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Spinocerebellar ataxia type 3 (SCA3), also known as Machadoâ€"Joseph disease, is the most common dominantly inherited ataxia. SCA3 is caused by a CAG repeat expansion in ... ...

    Abstract Spinocerebellar ataxia type 3 (SCA3), also known as Machadoâ€"Joseph disease, is the most common dominantly inherited ataxia. SCA3 is caused by a CAG repeat expansion in the
    Language English
    Publishing date 2023-02-02
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.02.01.526671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Regional and age-dependent changes in ubiquitination in cellular and mouse models of spinocerebellar ataxia type 3.

    Luo, Haiyang / Todi, Sokol V / Paulson, Henry L / Costa, Maria do Carmo

    Frontiers in molecular neuroscience

    2023  Volume 16, Page(s) 1154203

    Abstract: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common dominantly inherited ataxia. SCA3 is caused by a CAG repeat expansion in ... ...

    Abstract Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common dominantly inherited ataxia. SCA3 is caused by a CAG repeat expansion in the
    Language English
    Publishing date 2023-04-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2023.1154203
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Exposure to Heavy Metals, Obesity, and Stroke Mortality in the United States.

    Cao, Ziqin / Bakulski, Kelly M / Paulson, Henry L / Wang, Xin

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: We investigated the associations between blood concentrations of lead and cadmium with stroke mortality, and potential effect modification by obesity. Our study analyzed data from 23,437 individuals aged 40 and above, using the National Health and ... ...

    Abstract We investigated the associations between blood concentrations of lead and cadmium with stroke mortality, and potential effect modification by obesity. Our study analyzed data from 23,437 individuals aged 40 and above, using the National Health and Nutrition Examination Survey (NHANES 1999-2016) linked to the National Death Index. During a median follow-up period of 8.3 years, 336 stroke-related deaths were reported. After adjusting for potential confounders, we found that higher baseline concentrations of lead and cadmium were significantly associated with increased stroke mortality. Specifically, the hazard ratios (HRs) per doubling of metal concentrations were 1.16 (95% CI: 1.11, 1.20) for lead and 1.31 (95% CI: 1.26, 1.36) for cadmium. Stratified analysis showed that stronger associations were observed among participants who were normal weight or overweight, relative to those who were obese. In conclusion, our study demonstrates that elevated blood concentrations of lead and cadmium are significantly associated with an increased risk of stroke mortality, especially among individuals who are normal weight or overweight.
    Language English
    Publishing date 2023-09-18
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.09.18.23295722
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1.

    Moore, Lauren R / Keller, Laura / Paulson, Henry L / Smith, Gary D

    Stem cell research

    2022  Volume 64, Page(s) 102873

    Abstract: The most common autosomal dominant ataxia worldwide, spinocerebellar ataxia type 3 (SCA3) is a fatal, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the ATXN3 gene. Here we report the generation of human ... ...

    Abstract The most common autosomal dominant ataxia worldwide, spinocerebellar ataxia type 3 (SCA3) is a fatal, progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the ATXN3 gene. Here we report the generation of human embryonic stem cell (hESC) line UM134-1, the first SCA3 disease-specific hESC line to be added to the NIH hESC registry. UM134-1 pluripotency was confirmed by immunocytochemistry and PCR for pluripotency markers and by the ability to form three germ layers in vitro. The established hESC line provides a useful new human cell model to study the pathogenesis of SCA3.
    MeSH term(s) Humans ; Machado-Joseph Disease/pathology ; Ataxin-3/genetics ; Human Embryonic Stem Cells/metabolism ; Cell Line ; Trinucleotide Repeat Expansion
    Chemical Substances Ataxin-3 (EC 3.4.19.12)
    Language English
    Publishing date 2022-07-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2022.102873
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Associations of healthy lifestyle and socioeconomic status with cognitive function in U.S. older adults.

    Wang, Xin / Bakulski, Kelly M / Paulson, Henry L / Albin, Roger L / Park, Sung Kyun

    Scientific reports

    2023  Volume 13, Issue 1, Page(s) 7513

    Abstract: We investigated the complex relations of socioeconomic status (SES) and healthy lifestyles with cognitive functions among older adults in 1313 participants, aged 60 years and older, from the National Health and Nutrition Examination Survey 2011-2014. ... ...

    Abstract We investigated the complex relations of socioeconomic status (SES) and healthy lifestyles with cognitive functions among older adults in 1313 participants, aged 60 years and older, from the National Health and Nutrition Examination Survey 2011-2014. Cognitive function was measured using an average of the standardized z-scores of the Consortium to Establish a Registry for Alzheimer's Disease Word Learning and delayed recall tests, the Animal Fluency Test, and the Digit Symbol Substitution Test. Latent class analysis of family income, education, occupation, health insurance, and food security was used to define composite SES (low, medium, high). A healthy lifestyle score was calculated based on smoking, alcohol consumption, physical activity, and the Healthy-Eating-Index-2015. In survey-weighted multivariable linear regressions, participants with 3 or 4 healthy behaviors had 0.07 (95% CI 0.005, 0.14) standard deviation higher composite cognitive z-score, relative to those with one or no healthy behavior. Participants with high SES had 0.37 (95% CI 0.29, 0.46) standard deviation higher composite cognitive z-score than those with low SES. No statistically significant interaction was observed between healthy lifestyle score and SES. Our findings suggested that higher healthy lifestyle scores and higher SES were associated with better cognitive function among older adults in the United States.
    MeSH term(s) Animals ; Nutrition Surveys ; Health Behavior ; Cognition ; Low Socioeconomic Status ; Alcohol Drinking
    Language English
    Publishing date 2023-05-09
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, P.H.S. ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-023-34648-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Associations of Healthy Lifestyle and Socioeconomic Status with Cognitive Function in U.S. Older Adults.

    Wang, Xin / Bakulski, Kelly M / Paulson, Henry L / Albin, Roger L / Park, Sung Kyun

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: We investigated the complex relations of socioeconomic status (SES) and healthy lifestyles with cognitive functions among older adults in 1,313 participants, aged 60 years and older, from the National Health and Nutrition Examination Survey 2011-2014. ... ...

    Abstract We investigated the complex relations of socioeconomic status (SES) and healthy lifestyles with cognitive functions among older adults in 1,313 participants, aged 60 years and older, from the National Health and Nutrition Examination Survey 2011-2014. Cognitive function was measured using an average of the standardized z-scores of the Consortium to Establish a Registry for Alzheimer’s Disease Word Learning and delayed recall tests, the Animal Fluency Test, and the Digit Symbol Substitution Test. Latent class analysis of family income, education, occupation, health insurance, and food security was used to define composite SES (low, medium, high). A healthy lifestyle score was calculated based on smoking, alcohol consumption, physical activity, and the Healthy-Eating-Index-2015. In survey-weighted multivariable linear regressions, participants with 3 or 4 healthy behaviors had 0.07 (95% CI: 0.005, 0.14) standard deviation higher composite cognitive z-score, relative to those with one or no healthy behavior. Participants with high SES had 0.37 (95% CI: 0.29, 0.46) standard deviation higher composite cognitive z-score than those with low SES. No statistically significant interaction was observed between healthy lifestyle score and SES. Our findings suggested that higher healthy lifestyle scores and higher SES were associated with better cognitive function among older adults in the United States.
    Language English
    Publishing date 2023-01-28
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.24.23284961
    Database MEDical Literature Analysis and Retrieval System OnLINE

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