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Items: 1 to 20 of 152

1.

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.

PMID:
22584950
2.

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
3.

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.

4.

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.

PMID:
25962551
5.

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.

PMID:
23436634
6.

[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
7.

Neuroferritinopathy.

Lehn A, Boyle R, Brown H, Airey C, Mellick G.

Parkinsonism Relat Disord. 2012 Sep;18(8):909-15. doi: 10.1016/j.parkreldis.2012.06.021. Review.

PMID:
22818529
8.

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.

PMID:
23166001
9.

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.

PMID:
24636776
10.

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.

PMID:
25592411
11.

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, Brunetti D, Chiapparini L, Zibordi F, Siegel B, Garavaglia B, Simonati A, Bertini E, Nardocci N, Tiranti V.

Semin Pediatr Neurol. 2012 Jun;19(2):75-81. doi: 10.1016/j.spen.2012.03.006. Erratum in: Semin Pediatr Neurol. 2013 Mar;20(1):56. Siegel, Brigitte [corrected to Siegel, Birgit].

PMID:
22704260
12.

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. No abstract available.

PMID:
25819119
13.

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. Review.

PMID:
23212724
14.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

Br J Ophthalmol. 2014 Jul;98(7):889-93.

PMID:
24522175
15.

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.

Nishioka K, Oyama G, Yoshino H, Li Y, Matsushima T, Takeuchi C, Mochizuki Y, Mori-Yoshimura M, Murata M, Yamasita C, Nakamura N, Konishi Y, Ohi K, Ichikawa K, Terada T, Obi T, Funayama M, Saiki S, Hattori N.

Neurobiol Aging. 2015 May;36(5):2004.e9-2004.e15. doi: 10.1016/j.neurobiolaging.2015.01.020.

PMID:
25744623
16.

Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options.

Clement F, Devos D, Moreau C, Coubes P, Destee A, Defebvre L.

Acta Neurol Belg. 2007 Mar;107(1):26-31.

PMID:
17569231
17.

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.

Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, Walker RH, Paisán-Ruiz C.

Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079.

PMID:
23278385
18.

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G.

Pediatr Neurol. 2016 Nov;64:83-86. doi: 10.1016/j.pediatrneurol.2016.08.013.

PMID:
27671242
19.
20.

Neurodegeneration with brain iron accumulation.

McNeill A, Chinnery PF.

Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. Review.

PMID:
21496576

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