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Literature DB >> 31341721

13-year diagnostic delay as cerebral palsy of an Iraqi patient with NBIA type 4.

Ameer Shaker Hadi¹, Nebal Waill Saadi¹, Qusay Abed Fahad¹.

Abstract

Entities: Disease Species

Year: 2019 PMID： 31341721 PMCID： PMC6615660 DOI： 10.1212/CPJ.0000000000000622

Source DB: PubMed Journal: Neurol Clin Pract ISSN： 2163-0402

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5 in total

1. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Authors: Monika B Hartig; Arcangela Iuso; Tobias Haack; Tomasz Kmiec; Elzbieta Jurkiewicz; Katharina Heim; Sigrun Roeber; Victoria Tarabin; Sabrina Dusi; Malgorzata Krajewska-Walasek; Sergiusz Jozwiak; Maja Hempel; Juliane Winkelmann; Matthias Elstner; Konrad Oexle; Thomas Klopstock; Wolfgang Mueller-Felber; Thomas Gasser; Claudia Trenkwalder; Valeria Tiranti; Hans Kretzschmar; Gerd Schmitz; Tim M Strom; Thomas Meitinger; Holger Prokisch
Journal: Am J Hum Genet Date: 2011-10-07 Impact factor: 11.025

13-year diagnostic delay as cerebral palsy of an Iraqi patient with NBIA type 4.

1. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Review 2. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

3. A report: the definition and classification of cerebral palsy April 2006.

Review 4. Neurodegeneration with brain iron accumulation.

Review 5. Neuroimaging features of neurodegeneration with brain iron accumulation.