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  1. Article

    Open Access

    Multiple Correspondence Analysis and HLA-Associations of Organ Involvement in a Large Cohort of African-American and European-American Patients with Sarcoidosis

    Sarcoidosis is a systemic granulomatous disease with predominant pulmonary involvement and vast heterogeneity of clinical manifestations and disease outcomes. African American (AA) patients suffer greater morb...

    Astrid Rasmussen, Bryan A. Dawkins, Chuang Li, Nathan Pezant, Albert M. Levin… in Lung (2023)

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    Article

    Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures

    Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients pres...

    Karen N. McFarland, Jilin Liu, Ivette Landrian, Desmond Zeng, Salmo Raskin… in neurogenetics (2014)

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    Article

    Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer’s disease in Mexican families

    The etiology of Alzheimer’s disease (AD) is complex. To date, molecular genetic studies in several families affected with AD have identified three genes associated with highly penetrant early-onset AD: Preseni...

    Petra Yescas, Adriana Huertas-Vazquez, María Teresa Villarreal-Molina… in Neurogenetics (2006)