Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

The Cellular and Molecular Pathology of the Motor System in Hereditary Spastic Paraparesis due to Mutation of the Spastin Gene

Stephen B. Wharton, Christopher McDermott, Andrew J. Grierson et al. · Journal of Neuropathology & Experimental Neurology · 2003 · 98 citations · Full text

Medicine, Neurology, Neuroscience +17

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

Johanna A. Reed, Phillip A. Wilkinson, Heema Patel et al. · Neurogenetics · 2005 · 55 citations

Life Sciences, Genetics, Neurology +9

Hereditary Spastic Paraplegia-Associated Mutations in the<i>NIPA1</i>Gene and Its<i>Caenorhabditis elegans</i>Homolog Trigger Neural Degeneration<i>In Vitro</i>and<i>In Vivo</i>through a Gain-of-Function Mechanism

Jiali Zhao, Dawn Signor Matthies, Emmanuel J. Botzolakis et al. · Journal of Neuroscience · 2008 · 42 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Gijs H.P. Tazelaar, Annelot M. Dekker, Joke J.F.A. van Vugt et al. · Neurobiology of Aging · 2018 · 37 citations · Full text

Life Sciences, Neurology, Neuroscience +12