W. Ludo van der Pol

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 · 365 citations

Mitochondrial Myopathy, Mitochondrial Calcium, Muscle Disorder +11

Muscle strength and motor function throughout life in a cross‐sectional cohort of 180 patients with spinal muscular atrophy types 1c–4

Renske I. Wadman, Camiel A. Wijngaarde, Marloes Stam et al. · European Journal of Neurology · 2017 · 218 citations · Full text

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

Max Koppers, Marka van Blitterswijk, Lotte Vlam et al. · Neurobiology of Aging · 2011 · 139 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Genetic Disorder +5

<i><scp>RYR</scp>1</i>‐related myopathies: a wide spectrum of phenotypes throughout life

Marc Snoeck, Baziel G.M. van Engelen, Benno Küsters et al. · European Journal of Neurology · 2015 · 138 citations

A natural history study of late onset spinal muscular atrophy types 3b and 4

Sanne Piepers, Leonard H. van den Berg, F. Brugman et al. · Journal of Neurology · 2008 · 134 citations

Neuromusculoskeletal Disorder, Degenerative Spine, Kinesiology +8