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  1. Book ; Online ; E-Book: Trials for cerebellar ataxias

    Soong, Bing-wen / Manto, Mario / Brice, Alexis / Pulst, Stefan M.

    from cellular models to human therapies

    (Contemporary clinical neuroscience)

    2023  

    Author's details Bing-wen Soong, Mario Manto, Alexis Brice, Stefan M. Pulst editors
    Series title Contemporary clinical neuroscience
    Keywords Electronic books
    Language English
    Size 1 Online-Ressource (xi, 727 Seiten), Illustrationen, Diagramme
    Publisher Springer
    Publishing place Cham
    Publishing country Switzerland
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT030032327
    ISBN 978-3-031-24345-5 ; 9783031243448 ; 3-031-24345-5 ; 3031243447
    DOI 10.1007/978-3-031-24345-5
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Book: Spinocerebellar degenerations

    Brice, Alexis

    the ataxias and spastic paraplegias

    (Blue books of neurology ; 31)

    2007  

    Author's details ed. by Alexis Brice
    Series title Blue books of neurology ; 31
    Collection
    Keywords Cerebellar ataxia ; Paralysis, Spastic
    Subject code 616.842
    Language English
    Size XIX, 425 S. : Ill., graph. Darst.
    Edition 1. ed.
    Publisher Butterworth-Heinemann Elsevier
    Publishing place Philadelphia, Pa
    Publishing country United States
    Document type Book
    HBZ-ID HT015040587
    ISBN 0-7506-7503-9 ; 978-0-7506-7503-1
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2007 A 3455 order for loan Magazin

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  3. Article ; Online: Monogenic PD in Brazil: a step towards precision medicine.

    Courtin, Thomas / Brice, Alexis

    Arquivos de neuro-psiquiatria

    2021  Volume 79, Issue 7, Page(s) 563–564

    MeSH term(s) Brazil ; Humans ; Precision Medicine
    Language English
    Publishing date 2021-06-11
    Publishing country Brazil
    Document type Editorial ; Comment
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X-ANP-2021-E007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  4. Article ; Online: The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways.

    Marie-Hardy, Laura / Courtin, Thomas / Pascal-Moussellard, Hugues / Zakine, Serge / Brice, Alexis

    Genes

    2023  Volume 14, Issue 11

    Abstract: A significant genetic involvement has been known for decades to exist in adolescent idiopathic scoliosis (AIS), a spine deformity affecting 1-3% of the world population. However, though biomechanical and endocrinological theories have emerged, no clear ... ...

    Abstract A significant genetic involvement has been known for decades to exist in adolescent idiopathic scoliosis (AIS), a spine deformity affecting 1-3% of the world population. However, though biomechanical and endocrinological theories have emerged, no clear pathophysiological explanation has been found. Data from the whole-exome sequencing performed on 113 individuals in 19 multi-generational families with AIS have been filtered and analyzed via interaction pathways and functional category analysis (Varaft, Bingo and Panther). The subsequent list of 2566 variants has been compared to the variants already described in the literature, with an 18% match rate. The familial analysis in two families reveals mutations in the BICD2 gene, supporting the involvement of the muscular system in AIS etiology. The cellular component analysis revealed significant enrichment in myosin-related and neuronal activity-related categories. All together, these results reinforce the suspected role of the neuronal and muscular systems, highlighting the calmodulin pathway and suggesting a role of DNA-binding activities in AIS physiopathology.
    MeSH term(s) Humans ; Adolescent ; Scoliosis/pathology ; Exome Sequencing ; Kyphosis ; Mutation
    Language English
    Publishing date 2023-11-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14112094
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease.

    Tesson, Christelle / Bouchetara, Mohamed Sofiane / Ferrien, Mélanie / Lesage, Suzanne / Brice, Alexis

    Movement disorders : official journal of the Movement Disorder Society

    2023  Volume 38, Issue 9, Page(s) 1756–1757

    MeSH term(s) Humans ; Age of Onset ; Mutation/genetics ; Parkinson Disease/genetics ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2023-07-11
    Publishing country United States
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29533
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Response to Park et al.

    Barbier, Mathieu / Davoine, Claire Sophie / Brice, Alexis / Durr, Alexandra

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 23, Issue 6, Page(s) 1173–1174

    Language English
    Publishing date 2021-02-24
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-021-01105-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Learning from genetic forms of neurodegeneration.

    Brice, Alexis

    Nature medicine

    2010  Volume 16, Issue 12, Page(s) 1371

    MeSH term(s) Genes, Dominant ; Genetic Testing/methods ; Humans ; Mutation/genetics ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/genetics
    Language English
    Publishing date 2010-12-06
    Publishing country United States
    Document type Letter
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/nm1210-1371a
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores.

    Faouzi, Johann / Tan, Manuela / Casse, Fanny / Lesage, Suzanne / Tesson, Christelle / Brice, Alexis / Mangone, Graziella / Mariani, Louise-Laure / Iwaki, Hirotaka / Colliot, Olivier / Pihlstrøm, Lasse / Corvol, Jean-Christophe

    NPJ Parkinson's disease

    2024  Volume 10, Issue 1, Page(s) 8

    Abstract: Cognitive decline is common in Parkinson's disease (PD) and its genetic risk factors are not well known to date, besides variants in the GBA and APOE genes. However, variation in complex traits is caused by numerous variants and is usually studied with ... ...

    Abstract Cognitive decline is common in Parkinson's disease (PD) and its genetic risk factors are not well known to date, besides variants in the GBA and APOE genes. However, variation in complex traits is caused by numerous variants and is usually studied with genome-wide association studies (GWAS), requiring a large sample size, which is difficult to achieve for outcome measures in PD. Taking an alternative approach, we computed 100 polygenic scores (PGS) related to cognitive, dementia, stroke, and brain anatomical phenotypes and investigated their association with cognitive decline in six longitudinal cohorts. The analysis was adjusted for age, sex, genetic ancestry, follow-up duration, GBA and APOE status. Then, we meta-analyzed five of these cohorts, comprising a total of 1702 PD participants with 6156 visits, using the Montreal Cognitive Assessment as a cognitive outcome measure. After correction for multiple comparisons, we found four PGS significantly associated with cognitive decline: intelligence (p = 5.26e-13), cognitive performance (p = 1.46e-12), educational attainment (p = 8.52e-10), and reasoning (p = 3.58e-5). Survival analyses highlighted an offset of several years between the first and last quartiles of PGS, with significant differences for the PGS of cognitive performance (5 years) and educational attainment (7 years). In conclusion, we found four PGS associated with cognitive decline in PD, all associated with general cognitive phenotypes. This study highlights the common genetic factors between cognitive decline in PD and the general population, and the importance of the participant's cognitive reserve for cognitive outcome in PD.
    Language English
    Publishing date 2024-01-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2819218-7
    ISSN 2373-8057
    ISSN 2373-8057
    DOI 10.1038/s41531-023-00619-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Book ; Online: Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease

    Tesson, Christelle / Bouchetara, Mohamed Sofiane / Ferrien, Mélanie / Lesage, Suzanne / Brice, Alexis

    2023  

    Abstract: Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson ... ...

    Abstract Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson disease. No additional cases outside China have been reported so far.To assess the causality of DAGLB in our cohort, we used data mining in the exomes of 684 index cases with either autosomal recessive or sporadic early onset Parkinson disease (< 50 years). We identified a homozygous p.Pro357Leu missense variant in a single consanguineous PD case. This mutation predicted deleterious, affects a conserved amino acid localized in the catalytic domain of the protein nearby the pathological p.Asp363Gly mutation described in the previous paper. As the most frequent genes involved in AR-PD (PRKN, PINK1), the DAGLB-associated disease presents and evolves like typical PD.This work reinforces the fact that DAGLB is involved in early onset Parkinson disease, but given the fact that we identified a single patient among 684 index cases screened, we conclude that DAGLB is a very rare cause of early onset autosomal recessive Parkinson disease. However, we demonstrate that, mutations in DAGLB are not limited to the Chinese population but can also account for PD in North Africa.We feel that these new data indicate that DAGLB variants should be considered in non-Chinese cases with early-onset typical Parkinson disease.
    Keywords Quantitative Biology - Neurons and Cognition
    Subject code 610
    Publishing date 2023-10-19
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families.

    Courtin, Thomas / Tesson, Christelle / Corvol, Jean-Christophe / Lesage, Suzanne / Brice, Alexis

    Neurogenetics

    2021  Volume 22, Issue 4, Page(s) 365–366

    MeSH term(s) Arthrogryposis ; European Continental Ancestry Group/genetics ; Humans ; Mutation ; Parkinson Disease/genetics
    Language English
    Publishing date 2021-07-21
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1339887-8
    ISSN 1364-6753 ; 1364-6745
    ISSN (online) 1364-6753
    ISSN 1364-6745
    DOI 10.1007/s10048-021-00647-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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