The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika Hartig, Arcangela Iuso, Tobias B. Haack et al. · The American Journal of Human Genetics · 2011 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +12

New NBIA subtype

Penelope Hogarth, Allison Gregory, Michael C. Kruer et al. · Neurology · 2012 · 180 citations

Life Sciences, Neurology, Neuroscience +17

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i>

Guida Landouré, Peng-Peng Zhu, Charles Marques Lourenço et al. · Human Mutation · 2013 · 94 citations · Full text

Life Sciences, Genetics, Neurology +17

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

Marcus Deschauer, Charly Gaul, Curd Behrmann et al. · Journal of Neurology · 2012 · 64 citations

Life Sciences, Neurology, Neuroscience +13

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

Rita Horváth, Elke Holinski‐Feder, Vivienne C. M. Neeve et al. · Movement Disorders · 2012 · 48 citations

Life Sciences, Genetics, Neurology +17