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Kuuluvainen L, Kaivola K, Mönkäre S, et al. Oligogenic basis of sporadic ALS: The example of . Neurol Genet. 2019;5(3):e335doi: 10.1212/NXG.0000000000000335.
Kuuluvainen, L., Kaivola, K., Mönkäre, S., Laaksovirta, H., Jokela, M., Udd, B., Valori, M., Pasanen, P., Paetau, A., Traynor, B. J., Stone, D. J., Schleutker, J., Pöyhönen, M., Tienari, P. J., & Myllykangas, L. (2019). Oligogenic basis of sporadic ALS: The example of . Neurology. Genetics, 5(3), e335. https://doi.org/10.1212/NXG.0000000000000335
Kuuluvainen, Liina, et al. "Oligogenic basis of sporadic ALS: The example of ." Neurology. Genetics vol. 5,3 (2019): e335. doi: https://doi.org/10.1212/NXG.0000000000000335
Kuuluvainen L, Kaivola K, Mönkäre S, Laaksovirta H, Jokela M, Udd B, Valori M, Pasanen P, Paetau A, Traynor BJ, Stone DJ, Schleutker J, Pöyhönen M, Tienari PJ, Myllykangas L. Oligogenic basis of sporadic ALS: The example of . Neurol Genet. 2019 Apr 23;5(3):e335. doi: 10.1212/NXG.0000000000000335. eCollection 2019 Jun. PMID: 31086828; PMCID: PMC6481226.
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Neurol Genet. 2019 Apr 23;5(3):e335. doi: 10.1212/NXG.0000000000000335. eCollection 2019 Jun.

Oligogenic basis of sporadic ALS: The example of .

Neurology. Genetics

Liina Kuuluvainen, Karri Kaivola, Saana Mönkäre, Hannu Laaksovirta, Manu Jokela, Bjarne Udd, Miko Valori, Petra Pasanen, Anders Paetau, Bryan J Traynor, David J Stone, Johanna Schleutker, Minna Pöyhönen, Pentti J Tienari, Liisa Myllykangas

Affiliations

  1. Department of Clinical Genetics (L.K.), Helsinki University Hospital; Department of Medical Genetics (L.K.), University of Helsinki, Helsinki, Finland; Molecular Neurology (K.K., M.V., P.J.T.), Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Department of Medical Genetics (S.M.), University of Helsinki, Helsinki, Finland and Turku; University Hospital (S.M.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Neurology (H.L.), Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center (M.J., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Division of Clinical Neurosciences (M.J.), Turku University Hospital and University of Turku, Turku, Finland; Folkhälsan Research Center (B.U.), Biomedicum, University of Helsinki, Helsinki, Finland; Institute of Biomedicine (P.P., J.S.), University of Turku; Turku University Hospital (P.P., J.S.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Pathology (A.P.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Laboratory of Neurogenetics (B.J.T.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Merck & Co. (D.J.S.), Inc., West Point, PA; Department of Clinical Genetics (M.P.), Helsinki University Hospital; Department of Medical Genetics (M.P.), University of Helsinki, Helsinki, Finland; Department of Neurology (P.J.T.), Helsinki University Hospital; and Department of Pathology (L.M.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

PMID: 31086828 PMCID: PMC6481226 DOI: 10.1212/NXG.0000000000000335

Abstract

OBJECTIVE: To characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (

METHODS: An index patient with autopsy-proven ALS was discovered to have the

RESULTS: Seven screened patients (1.5%) were found to carry the

CONCLUSIONS: Our data suggest that the penetrance of

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