I Hausmanowa-Pétrusewicz

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

Linda M. Brzustowicz, Thomas Lehner, Lucio H. Castilla et al. · Nature · 1990 · 617 citations

Developmental Biology, Genetic Disorder, Genetics +5

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Alessandra Bolino, M. Muglia, F. L. Conforti et al. · Nature Genetics · 2000 · 457 citations

Myotubularin-related Protein-2, Mendelian Disorder, Genetic Disorder +7

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

Albert R. La Spada, Daniel B. Roling, Anita E. Harding et al. · Nature Genetics · 1992 · 377 citations

Biology, Genetic Analysis, Chromosome Dynamics +10

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

Klaus Zerres, Sabine Rudnik‐Schöneborn, Eric Forrest et al. · Journal of the Neurological Sciences · 1997 · 282 citations

Neuromusculoskeletal Disorder, Spinal Disorder, Natural History +9

The inner nuclear membrane protein Emerin regulates β‐catenin activity by restricting its accumulation in the nucleus

Ewa Markiewicz, Katarzyna Tilgner, Nick Barker et al. · The EMBO Journal · 2006 · 236 citations · Full text