Concepedia

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, Jürgen‐Christoph von Kleist-Retzow, Daniela Stanga, Yun Li, François P. Bernier, Catrina M. Loucks, Radu Wirth, Erik G. Puffenberger,

The American Journal of Human Genetics · 2013 · 120 citations · 32 references

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32

Multiple sequence alignment with hierarchical clustering

F. Corpet · Nucleic Acids Research · 1988 · 5.4K citations · Full text

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Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

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PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis

Jeffrey R. O'Connell, Daniel E. Weeks · The American Journal of Human Genetics · 1998 · 2.1K citations · Full text

, , +13

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 942 citations

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