Kate Bushby

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Ching H. Wang, Carsten G. Bönnemann, A. Rutkowski et al. · Journal of Child Neurology · 2010 · 211 citations · Full text

Family Medicine, Rare Diseases, Medicine +9

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Katja Grohmann, Raymonda Varon, Piroschka Stolz et al. · Annals of Neurology · 2003 · 171 citations

Muscular dystrophy due to dysferlin deficiency in Libyan Jews

Zohar Argov, Menachem Sadeh, Kineret Mazor et al. · Brain · 2000 · 107 citations · Full text

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Zagaa Odgerel, Anna Sárközy, Hee-Suk Lee et al. · Neuromuscular Disorders · 2010 · 99 citations

Biology, Mendelian Disorder, Genetic Disorder +10

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Montse Olivé, Zagaa Odgerel, Christine Stadelmann et al. · European Journal of Human Genetics · 2008 · 80 citations · Full text

Medicine, Immunology, Pathology +3