John Dou1, Kelly Bakulski1, Kai Guo1

  • 1From the Department of Epidemiology (J.D., K.B.), School of Public Health, Department of Neurology (K.G., E.L.F., S.A.G.), NeuroNetwork for Emerging Therapies (K.G., E.L.F., S.A.G.), University of Michigan, Ann Arbor; Department of Biomedical Sciences (J.H.), University of North Dakota, Grand Forks; Department of Biostatistics (L.Z.), School of Public Health, University of Michigan, Ann Arbor; Neuromuscular Diseases Research Section (S.S.-A., A.S., R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD; ALS Unit (A.G.-R., D.B.-H.), Instituto de Investigación Sanitaria "i + 12" del Hospital Universitario 12 de Octubre de Madrid, SERMAS, CIBERER (A.G.-R., R.R.-G., J.F.V.C., D.B.-H.), Center for Networked Biomedical Research into Rare Diseases, Madrid; Neuromuscular Disorders Unit (R.R.-G.), Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu I Sant Pau, Universitat Autonoma de Barcelona; Neuromuscular Unit (J.F.V.C.), Hospital Universitario y Politécnico la Fe, IIS La Fe; Department of Medicine (J.F.V.C.), Universitat de València; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) (R.F.S., P.G.-G., M.T.P., P.M., J.P.-T., F.C., O.D.-I.), Madrid; Lab of Parkinson's disease and Other Neurodegenerative Movement Disorders (R.F.S.), IDIBAPS-Institut d'Investigacions Biomèdiques, Barcelona; Unitat de Parkinson i Trastorns del Moviment, Servicio de Neurologia (R.F.S.), Hospital Clínic de Barcelona and Institut de Neurociencies de la Universitat de Barcelona (Maria de Maetzu Center), Catalonia, Spain; Center for Alzheimer's and Related Dementias (S.B.-C.), National Institute on Aging, Bethesda, MD; Unidad de Trastornos del Movimiento (P.G.-G., M.T.P., P.M.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC; Departamento de Medicina (P.M.), Universidad de Sevilla; Neurology and Molecular Genetics Mixed Investigation Unit (J.P.-T., F.C.), Instituto de Investigación Sanitaria La Fe, Molecular Genetics Unit (J.P.-T., F.C.), Institut de Biomedicina de València-CSIC; Department of Medicine (M.M.-G.), Universidad de Oviedo; Department of Neurology (M.M.-G.), Hospital Universitario Central de Asturias; Instituto de Investigación Sanitaria del Principado de Asturias (M.M.-G.), Oviedo, Spain; Service of Neurology (J.R.), Hospital Sierrallana, IDIVAL University of Cantabria, Torrelavega; Instituto de Investigación Marqués de Valdecilla (J.R., J.I.C.), Santander; Department of Neurology (L.G.-D.), ALS Unit, Hospital Clínico Universitario "San Carlos," Madrid; Unit of Neurodegenerative Diseases (P.P.), Department of Neurology, University Hospital Germans Trias I Pujol; Neurosciences (P.P.), The Germans Trias i Pujol Research Institute (IGTP) Badalona; Department of Neurology (C.P.), Hospital Universitario Virgen del Rocio, Sevilla; and Memory Unit (O.D.-I.), Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu I Sant Pau, Universitat Autonoma de Barcelona, Spain.

Neurology. Genetics
|June 9, 2023
PubMed
概括

多基因分数识别了缺乏单基因突变的群体中肌缩侧面硬化症 (ALS) 的累积遗传风险. 这种工具可能会改善未来的ALS风险预测模型.

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