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Items: 1 to 20 of 173

1.

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
2.

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.

Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R.

Pediatr Radiol. 2006 Aug;36(8):884-6. Epub 2006 Jun 7.

PMID:
16758184
3.

Diffusion tensor MR imaging in children with pantothenate kinase-associated neurodegeneration with brain iron accumulation and their siblings.

Awasthi R, Gupta RK, Trivedi R, Singh JK, Paliwal VK, Rathore RK.

AJNR Am J Neuroradiol. 2010 Mar;31(3):442-7. doi: 10.3174/ajnr.A1849. Epub 2009 Oct 22.

4.

Pantothenate-kinase associated neurodegeneration (PKAN) "eye of the tiger" sign.

Renaud DL, Kotagal S.

Pediatr Neurol. 2007 Jan;36(1):70-1. No abstract available.

PMID:
17162204
5.

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

Valentino P, Annesi G, Cirò Candiano IC, Annesi F, Civitelli D, Tarantino P, Naso F, Spadafora P, Carrideo S, De Marco EV, Consoli D, Zappia M, Gambardella A, Quattrone A.

Mov Disord. 2006 Feb;21(2):252-4.

PMID:
16149094
6.

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

Pérez-González EA, Chacón-Camacho OF, Arteaga-Vázquez J, Zenteno JC, Mutchinick OM.

Eur J Med Genet. 2013 Nov;56(11):606-8. doi: 10.1016/j.ejmg.2013.08.007. Epub 2013 Sep 25.

PMID:
24075960
7.

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA.

J Neurol Sci. 2014 May 15;340(1-2):233-6. doi: 10.1016/j.jns.2014.03.001. Epub 2014 Mar 11.

PMID:
24655737
8.
10.

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H.

AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1230-3.

11.

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

Shan J, Wen B, Zhu J, Lin P, Zheng J, Yan C.

Neurol Sci. 2013 Apr;34(4):561-3. doi: 10.1007/s10072-012-1177-8. Epub 2012 Aug 29.

PMID:
22930366
12.

Progressive dystonia in a 12-year-old boy.

Klepper J, Schaper J, Raca G, Coryell J, Das S, Hayflick SJ, Voit T.

Eur J Paediatr Neurol. 2003;7(2):85-8.

PMID:
12697433
13.

Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.

Lim BC, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS, Kim YE, Yun JY, Jeon BS, Lim YH, Paek SH, Chae JH.

Eur J Neurol. 2012 Apr;19(4):556-61. doi: 10.1111/j.1468-1331.2011.03589.x. Epub 2011 Nov 22.

PMID:
22103354
14.

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Cangül H, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER.

Turk J Pediatr. 2009 Mar-Apr;51(2):161-5.

PMID:
19480328
15.

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome.

Baumeister FA, Auer DP, Hörtnagel K, Freisinger P, Meitinger T.

Neuropediatrics. 2005 Jun;36(3):221-2.

PMID:
15944911
16.

Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene.

Cossu G, Melis M, Floris G, Hayflick SJ, Spissu A.

J Neurol. 2002 Nov;249(11):1599-600. No abstract available.

PMID:
12532925
17.

Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time.

Fermin-Delgado R, Roa-Sanchez P, Speckter H, Perez-Then E, Rivera-Mejia D, Foerster B, Stoeter P.

Clin Neuroradiol. 2013 Mar;23(1):11-5. doi: 10.1007/s00062-011-0127-9. Epub 2012 Jan 19.

PMID:
22258188
18.

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.

Molinuevo JL, Martí MJ, Blesa R, Tolosa E.

Mov Disord. 2003 Nov;18(11):1351-3.

PMID:
14639680
19.

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

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

N Engl J Med. 2003 Jan 2;348(1):33-40.

20.

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.

Doi H, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y.

J Neurol Sci. 2010 Mar 15;290(1-2):172-6. doi: 10.1016/j.jns.2009.11.008. Epub 2009 Dec 14.

PMID:
20006850

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