Anna Daroszewska

Novel UBA Domain Mutations of <i>SQSTM1</i> in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences

Lynne J. Hocking, Gavin Lucas, Anna Daroszewska et al. · Journal of Bone and Mineral Research · 2004 · 155 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice

Anna Daroszewska, Rob vanʼt Hof, Javier Rojas et al. · Human Molecular Genetics · 2011 · 128 citations

Medicine, Genetics, Molecular Biology +17

Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre

L. Ranganath, Milad Khedr, Anna M. Milan et al. · Molecular Genetics and Metabolism · 2018 · 104 citations · Full text

Medicine, Internal Medicine, Molecular Pathology +1

Open source software for semi-automated histomorphometry of bone resorption and formation parameters

Rob vanʼt Hof, Lorraine Rose, Euphemie Landao‐Bassonga et al. · Bone · 2017 · 101 citations · Full text

Medicine, Animal Sciences, Biomedical Imaging +16

Susceptibility to Paget's Disease of Bone Is Influenced by a Common Polymorphic Variant of Osteoprotegerin

Anna Daroszewska, Lynne J. Hocking, Fiona EA McGuigan et al. · Journal of Bone and Mineral Research · 2004 · 67 citations · Full text

Medicine, Genetics, Molecular Genetics +14