Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations

The National Center for Biotechnology Information

D. A. Benson, Mark S. Boguski, David J. Lipman et al. · Genomics · 1990 · 5.2K citations · Full text

Life Sciences, Biotechnology, Molecular Biology +10

Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62) in Paget Disease of Bone

Nancy Laurin, Jacques P. Brown, Jean Morissette et al. · The American Journal of Human Genetics · 2002 · 556 citations · Full text

Medicine, Genetics, Molecular Biology +16

<i>SQSTM1</i>Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Isabelle Le Ber · JAMA Neurology · 2013 · 184 citations · Full text

Life Sciences, Genetics, Neurology +17

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Cell Biology, Neuroscience +12

Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates

Fernando Benito Bartolomé, Noemí Esteras, Ángeles Martín‐Requero et al. · Scientific Reports · 2017 · 70 citations · Full text

Life Sciences, Neurology, Neuroscience +17