Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnière C, Thauvin C, Frebourg T, Lambert JC, Campion D. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry. 2012 Apr 3; PubMed.

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This paper appears in the following:

News

  1. New Genetic Insights Into AD: SORL1 and Natural Selection
  2. Pooled GWAS Reveals New Alzheimer’s Genes and Pathways
  3. SORLA Serves Up Aβ for Destruction

Mutations

  1. SORL1 Y141C
  2. SORL1 G511R
  3. SORL1 N924S
  4. SORL1 N1358S
  5. SORL1 C1478Ter
  6. SORL1 G1681D
  7. SORL1 W1821Ter

Therapeutics

  1. Latozinemab