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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Mériem Tazir, Nadia Kassouri, Pierre Szepetowski, T. Hammadouche, Antoon Vandenberghe, Colin L. Stewart,

The American Journal of Human Genetics · 2002 · 551 citations · 33 references

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33

Easy calculations of lod scores and genetic risks on small computers.

G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations

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Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Diane Fatkin, Calum A. MacRae, Takeshi Sasaki et al. · New England Journal of Medicine · 1999 · 1.4K citations · Full text

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics · 1999 · 1.3K citations

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Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy

Teresa Sullivan, Diana Escalante‐Alcalde, Harshida Bhatt et al. · The Journal of Cell Biology · 1999 · 1.2K citations · Full text

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Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

H. Skre · Clinical Genetics · 1974 · 903 citations

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