Goekhan Uyanik

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 246 citations

High Efficacy of Clonal Growth and Expansion of Adult Neural Stem Cells

Frank‐Peter Wachs, Sébastien Couillard‐Després, Maren Engelhardt et al. · Laboratory Investigation · 2003 · 186 citations · Full text

Regenerative Medicine, Embryonic Stem Cell, Developmental Biology +14

Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis

Georg Greiner, Bettina Sprinzl, Aleksandra Górska et al. · Blood · 2020 · 169 citations · Full text

Long‐term course and mutational spectrum of <i>spatacsin</i>‐linked spastic paraplegia

Ute Hehr, Peter Bauer, Beate Winner et al. · Annals of Neurology · 2007 · 116 citations

Neurological Disorder, Genetics, Motor Development +22

47 patients with FLNA associated periventricular nodular heterotopia

Max Lange, Burkhard S. Kasper, Axel Bohring et al. · Orphanet Journal of Rare Diseases · 2015 · 105 citations · Full text