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Items: 1 to 20 of 95

1.

Sleep in genetically confirmed pantothenate kinase-associated neurodegeneration: a video-polysomnographic study.

Fantini ML, Cossu G, Molari A, Cabinio M, Uyanik O, Cilia R, Melis M, Antonini A, Ferini-Strambi L.

Parkinsons Dis. 2010 Jun 29;2010:342834. doi: 10.4061/2010/342834.

2.

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.

Seo JH, Song SK, Lee PH.

J Clin Neurol. 2009 Dec;5(4):192-4. doi: 10.3988/jcn.2009.5.4.192. Epub 2009 Dec 31.

3.

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
4.

A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

Ghafouri-Fard S, Yassaee VR, Rezayi A, Hashemi-Gorji F, Alipour N, Miryounesi M.

Int J Mol Cell Med. 2016 Fall;5(4):255-259. Epub 2016 Oct 23.

5.

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.

6.

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
7.

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.

Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ.

Ann N Y Acad Sci. 2004 Mar;1012:282-98.

PMID:
15105273
8.

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.

Dezfouli MA, Jaberi E, Alavi A, Rezvani M, Shahidi G, Elahi E, Rohani M.

Iran J Neurol. 2012;11(4):155-8.

9.
10.

REM sleep characteristics in narcolepsy and REM sleep behavior disorder.

Dauvilliers Y, Rompré S, Gagnon JF, Vendette M, Petit D, Montplaisir J.

Sleep. 2007 Jul;30(7):844-9.

11.

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.

Wu Z, Li C, Lv S, Zhou B.

Hum Mol Genet. 2009 Oct 1;18(19):3659-72. doi: 10.1093/hmg/ddp314. Epub 2009 Jul 13.

PMID:
19602483
12.

Sertraline and rapid eye movement sleep without atonia: an 8-week, open-label study of depressed patients.

Zhang B, Hao Y, Jia F, Tang Y, Li X, Liu W, Arnulf I.

Prog Neuropsychopharmacol Biol Psychiatry. 2013 Dec 2;47:85-92. doi: 10.1016/j.pnpbp.2013.08.010. Epub 2013 Aug 29.

PMID:
23994660
13.
14.

Comparison between an automatic and a visual scoring method of the chin muscle tone during rapid eye movement sleep.

Ferri R, Gagnon JF, Postuma RB, Rundo F, Montplaisir JY.

Sleep Med. 2014 Jun;15(6):661-5. doi: 10.1016/j.sleep.2013.12.022. Epub 2014 Mar 5.

PMID:
24831249
15.
16.

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.

Angural A, Singh I, Mahajan A, Pandoh P, Dhar MK, Kaul S, Verma V, Rai E, Razdan S, Kishore Pandita K, Sharma S.

Sci Rep. 2017 Jul 5;7(1):4834. doi: 10.1038/s41598-017-05388-9.

17.

Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.

Han J, Kim do W, Lee CH, Han SH.

J Neuroophthalmol. 2016 Jun;36(2):182-6. doi: 10.1097/WNO.0000000000000335.

PMID:
26828840
18.

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
19.

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojaczynska-Stanek K.

J Child Neurol. 2007 Nov;22(11):1256-9.

PMID:
18006953
20.

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

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