Concepedia

De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling

Thorsten Schmidt, Sabine Rudnik‐Schöneborn, Michael Krawczak, Bertram Müller-Myhsok, Jutta Schönling, Klaus Zerres

The American Journal of Human Genetics · 1997 · 178 citations · 42 references

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42

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

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Human Genetics. Problems and Approaches.

Annals of Internal Medicine · 1980 · 994 citations

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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Natalie Roy, Mani S. Mahadevan, Michael D. McLean et al. · Cell · 1995 · 971 citations · Full text

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International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Theodore L. Munsat, Kay E. Davies · Neuromuscular Disorders · 1992 · 655 citations

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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 · 619 citations

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