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Items: 1 to 20 of 108

1.

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.

2.

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
3.

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.

4.

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
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.

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
7.

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N.

J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. Review.

PMID:
27030146
8.

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
9.

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
10.

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
11.

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
12.

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
13.

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.

14.

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
15.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.

Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.

16.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA.

Epileptic Disord. 2015 Dec;17(4):467-72. doi: 10.1684/epd.2015.0784.

17.

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
18.

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.

19.

Early manifestations of BPAN in a pediatric patient.

Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I.

Am J Med Genet A. 2014 Dec;164A(12):3095-9. doi: 10.1002/ajmg.a.36779. Epub 2014 Sep 26.

PMID:
25263061
20.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study., Magee AC, Turnpenny PD, Baralle D.

J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.

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