Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

Faster sequential genetic linkage computations.

Robert W. Cottingham, Ramana M. Idury, Alejandro A. Schäffer · PubMed · 1993 · 1.4K citations

Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, T. Horikoshi, Simon J. H. Heaney et al. · Proceedings of the National Academy of Sciences · 2002 · 456 citations · Full text

Mutations in the gene–encoding SERCA1, the fast–twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Alex Odermatt, Peter E.M. Taschner, Vijay K. Khanna et al. · Nature Genetics · 1996 · 229 citations

Molecular Physiology, Signal Transduction, Skeletal Muscle +8

The exercise test in periodic paralysis

Philip G. McManis, Edward H. Lambert, Jasper R. Daube · Muscle & Nerve · 1986 · 206 citations

Muscle Function, Neuromuscular Blockade, Periodic Paralysis +21

A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3

Samuel S. Chong, Svetlana Pack, Anna V. Roschke et al. · Human Molecular Genetics · 1997 · 191 citations · Full text