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Items: 1 to 20 of 114

1.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.

Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.

2.

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.

Am J Med Genet A. 2016 Feb;170A(2):322-8. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Review.

PMID:
26481852
3.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ.

Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.

4.

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
5.

A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration.

Wynn DP, Pulst SM.

Neurol Genet. 2016 Dec 5;3(1):e124. eCollection 2017 Feb.

6.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Van Goethem G, Livingston JH, Warren D, Oojageer AJ, Rice GI, Crow YJ.

Pediatr Neurol. 2014 Dec;51(6):843-5. doi: 10.1016/j.pediatrneurol.2014.08.017. Epub 2014 Sep 6.

PMID:
25301227
7.

Newly characterized forms of neurodegeneration with brain iron accumulation.

Doorn JM, Kruer MC.

Curr Neurol Neurosci Rep. 2013 Dec;13(12):413. doi: 10.1007/s11910-013-0413-9. Review.

8.

BPAN: the only X-linked dominant NBIA disorder.

Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ.

Int Rev Neurobiol. 2013;110:85-90. doi: 10.1016/B978-0-12-410502-7.00005-3. Review.

PMID:
24209435
9.

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. Epub 2015 Jan 3.

PMID:
25592411
10.

Brain iron takes off: a new propeller protein links neurodegeneration with autophagy.

Horvath R.

Brain. 2013 Jun;136(Pt 6):1687-91. doi: 10.1093/brain/awt098. Epub 2013 May 14. No abstract available.

PMID:
23674487
11.

Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

Endo H, Uenaka T, Satake W, Suzuki Y, Tachibana H, Chihara N, Ueda T, Sekiguchi K, Mariko TI, Kowa H, Kanda F, Toda T.

Neurol Clin Neurosci. 2017 Jul;5(4):131-133. doi: 10.1111/ncn3.12132. Epub 2017 Jun 29.

PMID:
28932395
12.

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP.

Parkinsonism Relat Disord. 2014 Mar;20(3):332-6. doi: 10.1016/j.parkreldis.2013.11.019. Epub 2013 Dec 10.

PMID:
24368176
13.

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
14.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

Morisada N, Tsuneishi S, Taguchi K, Yagi R, Nishiyama M, Toyoshima D, Nakagawa T, Takeshima Y, Takada S, Iijima K.

No To Hattatsu. 2016 May;48(3):209-12. Japanese.

PMID:
27349085
15.

Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).

Hattingen E, Handke N, Cremer K, Hoffjan S, Kukuk GM.

Clin Neuroradiol. 2017 Jun 22. doi: 10.1007/s00062-017-0605-9. [Epub ahead of print]

PMID:
28643035
16.

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N.

J Hum Genet. 2014 May;59(5):292-5. doi: 10.1038/jhg.2014.18. Epub 2014 Mar 13.

PMID:
24621584
17.

Neurodegeneration with Brain Iron Accumulation.

Schneider SA.

Curr Neurol Neurosci Rep. 2016 Jan;16(1):9. doi: 10.1007/s11910-015-0608-3. Review.

PMID:
26739693
18.

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL.

Mol Cell Probes. 2016 Feb;30(1):44-9. doi: 10.1016/j.mcp.2016.01.003. Epub 2016 Jan 11. Review.

PMID:
26790960
19.

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.

Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S.

Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

20.

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

Ozawa T, Koide R, Nakata Y, Saitsu H, Matsumoto N, Takahashi K, Nakano I, Orimo S.

Am J Med Genet A. 2014 Sep;164A(9):2388-90. doi: 10.1002/ajmg.a.36635. Epub 2014 Jul 10.

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