Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathyNigel G. Laing, Duangrurdee Wattanasirichaigoon, Hans H. Goebel et al.|Nature Genetics|1999Cited by 401
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumNicholas Katsanis, Erica E. Davis, Qi Zhang et al.|Nature Genetics|2011Cited by 381
<i><scp>LTBP4</scp></i> genotype predicts age of ambulatory loss in duchenne muscular dystrophyKevin M. Flanigan, Robert B. Weiss, Ermelinda Ceco et al.|Annals of Neurology|2012Cited by 242
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatmentDaniel M. Ramos, Charlotte J. Sumner, Constantin d’Ydewalle et al.|Journal of Clinical Investigation|2019Cited by 190
Paroxysmal kinesigenic dyskinesia and infantile convulsionsKathryn J. Swoboda, Louis J. Ptáček, Bing‐Wen Soong et al.|Neurology|2000Cited by 127