| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. | Ann Neurol | 2012 | 1.70 |
| 2 | Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. | Am J Hum Genet | 2010 | 1.27 |
| 3 | PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. | Neurology | 2012 | 0.99 |
| 4 | Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. | Prenat Diagn | 2002 | 0.90 |
| 5 | Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands. | Neuromuscul Disord | 2013 | 0.76 |