H. Roper

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 282 citations

Medicine, Genetics, Neurology +12

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Haiyan Zhou, Heinz Jungbluth, C. Sewry et al. · Brain · 2007 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<i>SEPN1</i> -related myopathies

Mariacristina Scoto, Sebahattin Çirak, R. Mein et al. · Neurology · 2011 · 84 citations

Life Sciences, Genetics, Pediatrics +14

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

B. Sunitha, Ana Töpf, Grace McMacken et al. · European Journal of Human Genetics · 2019 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17