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Items: 1 to 20 of 160

1.

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
2.

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
3.

Eye of the tiger sign in a 23 year patient with mitochondrial membrane protein associated neurodegeneration.

Skowronska M, Kmiec T, Kurkowska-Jastrzębska I, Czlonkowska A.

J Neurol Sci. 2015 May 15;352(1-2):110-1. doi: 10.1016/j.jns.2015.03.019. Epub 2015 Mar 20. No abstract available.

PMID:
25819119
4.

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
5.

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
6.

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
7.

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
8.

[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].

Zakharova EY, Rudenskaya GE.

Zh Nevrol Psikhiatr Im S S Korsakova. 2014;114(1):4-12. Russian.

PMID:
24637810
9.

Neurodegeneration with brain iron accumulation.

Wiethoff S, Houlden H.

Handb Clin Neurol. 2017;145:157-166. doi: 10.1016/B978-0-12-802395-2.00011-0. Review.

PMID:
28987166
10.

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.

11.

Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).

Schneider SA, Bhatia KP.

J Neural Transm (Vienna). 2013 Apr;120(4):695-703. doi: 10.1007/s00702-012-0922-8. Epub 2012 Dec 2. Review.

PMID:
23212724
12.

Early manifestations of BPAN in a pediatric patient.

Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I.

Am J Med Genet A. 2014 Dec;164A(12):3095-9. doi: 10.1002/ajmg.a.36779. Epub 2014 Sep 26.

PMID:
25263061
13.

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
14.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG.

Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Review.

15.

"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).

Yoganathan S, Sudhakar SV, Thomas M, Dutta AK, Danda S.

Brain Dev. 2016 May;38(5):516-9. doi: 10.1016/j.braindev.2015.10.017. Epub 2015 Nov 18.

PMID:
26602591
17.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Van Goethem G, Livingston JH, Warren D, Oojageer AJ, Rice GI, Crow YJ.

Pediatr Neurol. 2014 Dec;51(6):843-5. doi: 10.1016/j.pediatrneurol.2014.08.017. Epub 2014 Sep 6.

PMID:
25301227
18.

Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration.

Skowronska M, Walter U, Kmiec T, Czlonkowska A.

Parkinsonism Relat Disord. 2013 Nov;19(11):1061-3. doi: 10.1016/j.parkreldis.2013.06.020. Epub 2013 Jul 17. No abstract available.

PMID:
23871464
19.

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.

20.

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.

Aoun M, Tiranti V.

Int J Biochem Cell Biol. 2015 Jun;63:25-31. doi: 10.1016/j.biocel.2015.01.018. Epub 2015 Feb 7. Review.

PMID:
25668476

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