Associated Papers
Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.
Shaik NA et al.
Journal of Biomolecular Structure & Dynamics, 2021
Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia.
Sun L et al.
Frontiers in Aging Neuroscience, 2018
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Epidemiogenetic study of French families with Paget's disease of bone.
Michou L et al.
Joint Bone Spine, 2012
Paget's disease of bone: evidence for complex pathogenetic interactions.
Chung PY et al.
Seminars in Arthritis and Rheumatism, 2012
Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
Collet C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
Morissette J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Li A et al.
American Journal of Human Genetics, 2003
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