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Items: 20

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1.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Schiessl-Weyer J, Roa P, Laccone F, Kluge B, Tichy A, De Almeida Ribeiro E, Prohaska R, Stoeter P, Siegl C, Salzer U.

PLoS One. 2015 Apr 27;10(4):e0125861. doi: 10.1371/journal.pone.0125861. eCollection 2015.

2.

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM.

J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21. Review.

PMID:
25413954
3.

Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up.

Cossu G, Abbruzzese G, Matta G, Murgia D, Melis M, Ricchi V, Galanello R, Barella S, Origa R, Balocco M, Pelosin E, Marchese R, Ruffinengo U, Forni GL.

Parkinsonism Relat Disord. 2014 Jun;20(6):651-4. doi: 10.1016/j.parkreldis.2014.03.002. Epub 2014 Mar 12.

PMID:
24661465
4.

Genetic and phenotypic variability of optic neuropathies.

Neuhann T, Rautenstrauss B.

Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. Review.

PMID:
23545052
5.

Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia.

Lumsden DE, Kaminska M, Gimeno H, Tustin K, Baker L, Perides S, Ashkan K, Selway R, Lin JP.

Dev Med Child Neurol. 2013 Jun;55(6):567-74. doi: 10.1111/dmcn.12117. Epub 2013 Mar 1.

6.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N.

Nat Genet. 2013 Apr;45(4):445-9, 449e1. doi: 10.1038/ng.2562. Epub 2013 Feb 24.

PMID:
23435086
7.

Targeting dysregulation of brain iron homeostasis in Parkinson's disease by iron chelators.

Weinreb O, Mandel S, Youdim MB, Amit T.

Free Radic Biol Med. 2013 Sep;62:52-64. doi: 10.1016/j.freeradbiomed.2013.01.017. Epub 2013 Jan 30. Review.

PMID:
23376471
8.

Neurodegeneration with brain iron accumulation.

Dusek P, Schneider SA.

Curr Opin Neurol. 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. Review.

PMID:
22691760
9.

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.

10.

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

Chiapparini L, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N.

Neuropediatrics. 2011 Aug;42(4):159-62. doi: 10.1055/s-0031-1285925. Epub 2011 Aug 29.

PMID:
21877312
11.

Iron toxicity in diseases of aging: Alzheimer's disease, Parkinson's disease and atherosclerosis.

Altamura S, Muckenthaler MU.

J Alzheimers Dis. 2009;16(4):879-95. doi: 10.3233/JAD-2009-1010. Review.

PMID:
19387120
12.

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T.

Ann Neurol. 2006 Feb;59(2):248-56.

PMID:
16437574
13.

Neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ.

Folia Neuropathol. 2005;43(4):286-96. Review.

14.
15.

Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.

Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB.

J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80.

17.

hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA.

Zhou B, Bae SK, Malone AC, Levinson BB, Kuo YM, Cilio MR, Bertini E, Hayflick SJ, Gitschier JM.

Pediatr Neurol. 2001 Aug;25(2):156-61.

PMID:
11551746
18.

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ.

Nat Genet. 2001 Aug;28(4):345-9.

PMID:
11479594
19.

Iron involvement in neural damage and microgliosis in models of neurodegenerative diseases.

Shoham S, Youdim MB.

Cell Mol Biol (Noisy-le-grand). 2000 Jun;46(4):743-60. Review.

PMID:
10875437
20.

Hallervorden-Spatz disease: cysteine accumulation and cysteine dioxygenase deficiency in the globus pallidus.

Perry TL, Norman MG, Yong VW, Whiting S, Crichton JU, Hansen S, Kish SJ.

Ann Neurol. 1985 Oct;18(4):482-9.

PMID:
4073841
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