New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

@article{Hogarth2013NewNS,
  title={New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.},
  author={P Hogarth and Allison Gregory and Michael C Kruer and Laura Sanford and Wendy J Wagoner and Marvin R Natowicz and Robert T. Egel and Sankarasubramoney H. Subramony and Jennifer G Goldman and Elizabeth M. Berry-Kravis and Nicola C. Foulds and Simon R. Hammans and Isabelle Desguerre and Diana Patricia Beltr{\'a}n Rodr{\'i}guez and Callum Wilson and Andrea Edit Diedrich and Sarah Francesca Green and Huong Tran and Lindsay C. Reese and Randall L. Woltjer and Susan J Hayflick},
  journal={Neurology},
  year={2013},
  volume={80 3},
  pages={
          268-75
        }
}
OBJECTIVE To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype. METHODS Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identified in 23 subjects. Direct examinations were completed on 8 of these individuals, and medical records were reviewed on all 23. Histochemical and immunohistochemical studies were performed on brain… CONTINUE READING
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Newly Characterized Forms of Neurodegeneration with Brain Iron Accumulation

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Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

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