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Items: 1 to 20 of 27

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1.

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.

Khalifa M, Naffaa L.

Eur J Med Genet. 2015 Aug;58(8):381-6. doi: 10.1016/j.ejmg.2015.05.009. Epub 2015 Jun 19.

PMID:
26096995
2.

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.

3.

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. Epub 2015 Jan 30.

PMID:
25744623
4.

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
5.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA.

Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.

6.

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
7.

Differential diagnosis of Huntington's disease: what the clinician should know.

Cardoso F.

Neurodegener Dis Manag. 2014;4(1):67-72. doi: 10.2217/nmt.13.78.

PMID:
24640980
8.

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.

Gautschi M, Merlini L, Calza AM, Hayflick S, Nuoffer JM, Fluss J.

Eur J Paediatr Neurol. 2014 Jul;18(4):516-9. doi: 10.1016/j.ejpn.2014.02.005. Epub 2014 Feb 25.

PMID:
24636010
9.

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
10.

Metals and movement disorders.

Taba P.

Curr Opin Neurol. 2013 Aug;26(4):435-41. doi: 10.1097/WCO.0b013e3283629beb. Review.

PMID:
23787769
11.

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. Epub 2013 Jan 21.

PMID:
23278385
12.

Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

Zhang P, Gao Z, Jiang Y, Wang J, Zhang F, Wang S, Yang Y, Xiong H, Zhang Y, Bao X, Xiao J, Wu X, Wu Y.

Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 2012 Aug 31.

PMID:
22934738
13.

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
14.

Iron toxicity in neurodegeneration.

Núñez MT, Urrutia P, Mena N, Aguirre P, Tapia V, Salazar J.

Biometals. 2012 Aug;25(4):761-76. doi: 10.1007/s10534-012-9523-0. Epub 2012 Feb 9. Review.

PMID:
22318507
15.

Deep brain stimulation in children: experience and technical pearls.

Air EL, Ostrem JL, Sanger TD, Starr PA.

J Neurosurg Pediatr. 2011 Dec;8(6):566-74. doi: 10.3171/2011.8.PEDS11153.

PMID:
22132914
16.

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).

Delgado RF, Sanchez PR, Speckter H, Then EP, Jimenez R, Oviedo J, Dellani PR, Foerster B, Stoeter P.

J Magn Reson Imaging. 2012 Apr;35(4):788-94. doi: 10.1002/jmri.22884. Epub 2011 Nov 29.

PMID:
22127788
17.

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.

18.

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
19.

Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome.

Mak CM, Sheng B, Lee HH, Lau KK, Chan WT, Lam CW, Chan YW.

Int J Neurosci. 2011 Apr;121(4):224-7. doi: 10.3109/00207454.2010.542843. Epub 2011 Jan 4.

PMID:
21198414
20.

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M.

Mov Disord. 2010 Jul 30;25(10):1424-31. doi: 10.1002/mds.23095.

PMID:
20629144
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