Margherita Milone

Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri et al. · Human Mutation · 2008 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diseased Skeletal Muscle

Allan S. Jaffe, Vlad C. Vasile, Margherita Milone et al. · Journal of the American College of Cardiology · 2011 · 278 citations

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

Steven M. Sine, Kinji Ohno, Cecilia Bouzat et al. · Neuron · 1995 · 267 citations · Full text

Life Sciences, Biochemistry, Neuroscience +13

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Kinji Ohno, David Hutchinson, Margherita Milone et al. · Proceedings of the National Academy of Sciences · 1995 · 259 citations

Life Sciences, Genetics, Molecular Genetics +17

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

Kinji Ohno, Andrew G. Engel, Xin‐Ming Shen et al. · The American Journal of Human Genetics · 2002 · 238 citations · Full text

Life Sciences, Genetics, Neuroscience +16