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Items: 1 to 20 of 118

1.

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

Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ.

Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26.

2.

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, Hempel M, Prokisch H, Haun-Jünger U, Winkelmann J, Hemmer B, Förschler A, Ilg R.

Mov Disord. 2013 Feb;28(2):224-7. doi: 10.1002/mds.25256. Epub 2012 Nov 19.

PMID:
23436634
3.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S.

J Neurol Sci. 2015 Feb 15;349(1-2):105-9. doi: 10.1016/j.jns.2014.12.036. Epub 2015 Jan 3.

PMID:
25592411
4.

Neurodegeneration associated with genetic defects in phospholipase A(2).

Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ.

Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17.

5.

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

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

6.

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Hartig M, Prokisch H, Meitinger T, Klopstock T.

Int Rev Neurobiol. 2013;110:73-84. doi: 10.1016/B978-0-12-410502-7.00004-1. Review.

PMID:
24209434
7.

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Gagliardi M, Annesi G, Lesca G, Broussolle E, Iannello G, Vaiti V, Gambardella A, Quattrone A.

Parkinsonism Relat Disord. 2015 Jul;21(7):813-6. doi: 10.1016/j.parkreldis.2015.04.009. Epub 2015 Apr 23.

PMID:
25962551
8.

Mitochondrial protein associated neurodegeneration - case report.

Kłysz B, Skowrońska M, Kmieć T.

Neurol Neurochir Pol. 2014 Jan-Feb;48(1):81-4. doi: 10.1016/j.pjnns.2013.09.002. Epub 2014 Jan 23.

PMID:
24636776
9.

Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA).

Liman J, Wellmer A, Rostasy K, Bähr M, Kermer P.

Eur J Paediatr Neurol. 2012 Mar;16(2):175-8. doi: 10.1016/j.ejpn.2011.07.009. Epub 2011 Aug 3.

PMID:
21816641
10.

Newly characterized forms of neurodegeneration with brain iron accumulation.

Doorn JM, Kruer MC.

Curr Neurol Neurosci Rep. 2013 Dec;13(12):413. doi: 10.1007/s11910-013-0413-9. Review.

11.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.

Mov Disord. 2013 Feb;28(2):228-32. doi: 10.1002/mds.25271. Epub 2012 Nov 19.

PMID:
23166001
12.

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).

Langwinska-Wosko E, Skowronska M, Kmiec T, Czlonkowska A.

J Neurol Sci. 2016 Nov 15;370:237-240. doi: 10.1016/j.jns.2016.09.046. Epub 2016 Sep 23.

PMID:
27772766
14.

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.

Li A, Paudel R, Johnson R, Courtney R, Lees AJ, Holton JL, Hardy J, Revesz T, Houlden H.

Neuropathol Appl Neurobiol. 2013 Feb;39(2):121-31. doi: 10.1111/j.1365-2990.2012.01269.x.

15.

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

Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V.

Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21.

PMID:
28347615
16.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.

Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.

17.

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP.

Curr Neuropharmacol. 2013 Jan;11(1):59-79. doi: 10.2174/157015913804999469.

18.

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Skowronska M, Kmiec T, Jurkiewicz E, Malczyk K, Kurkowska-Jastrzębska I, Czlonkowska A.

Parkinsonism Relat Disord. 2017 Jun;39:71-76. doi: 10.1016/j.parkreldis.2017.03.013. Epub 2017 Mar 21.

PMID:
28347614
19.

Clinicopathological variability in neurodegeneration with brain iron accumulation.

Vincze A, Kapás I, Molnar MJ, Kovács GG.

Ideggyogy Sz. 2010 Mar 30;63(3-4):129-35.

PMID:
20405671
20.

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

Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB.

J Neurol. 2012 Nov;259(11):2434-9. doi: 10.1007/s00415-012-6521-7. Epub 2012 May 15.

PMID:
22584950

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