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Items: 1 to 20 of 119

1.

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids.

Kraya T, Quandt D, Pfirrmann T, Kindermann A, Lampe L, Schroeter ML, Kohlhase J, Stoevesandt D, Hoffmann K, Villavicencio-Lorini P.

Mol Genet Genomic Med. 2019 Apr;7(4):e00595. doi: 10.1002/mgg3.595. Epub 2019 Feb 6.

2.

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T.

J Neurol. 2018 Oct;265(10):2415-2424. doi: 10.1007/s00415-018-9017-2. Epub 2018 Aug 22.

3.

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T.

Eur J Neurol. 2017 Jan;24(1):37-45. doi: 10.1111/ene.13125. Epub 2016 Sep 29.

4.

A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.

Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, Furuta A, Takanashi M, Li Y, Hattori N, Mitsuyama Y, Arai H.

J Neurol Sci. 2016 Aug 15;367:349-55. doi: 10.1016/j.jns.2016.06.013. Epub 2016 Jun 7.

PMID:
27423618
5.

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

Di Donato I, Stabile C, Bianchi S, Taglia I, Mignarri A, Salvatore S, Giorgio E, Brusco A, Simone I, Dotti MT, Federico A.

J Alzheimers Dis. 2015;47(2):319-22. doi: 10.3233/JAD-150097.

6.

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.

Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Onodera O, Wszolek ZK, Ikeuchi T.

Eur J Neurol. 2018 Jan;25(1):142-147. doi: 10.1111/ene.13464. Epub 2017 Oct 19.

7.

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.

Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.

Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4.

PMID:
23038421
8.

CSF1R-related leukoencephalopathy: A major player in primary microgliopathies.

Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK.

Neurology. 2018 Dec 11;91(24):1092-1104. doi: 10.1212/WNL.0000000000006642. Epub 2018 Nov 14. Review.

PMID:
30429277
9.

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.

Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK.

Parkinsonism Relat Disord. 2013 Oct;19(10):869-77. doi: 10.1016/j.parkreldis.2013.05.013. Epub 2013 Jun 17.

10.

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

Pridans C, Sauter KA, Baer K, Kissel H, Hume DA.

Sci Rep. 2013 Oct 22;3:3013. doi: 10.1038/srep03013.

11.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.

Kim EJ, Shin JH, Lee JH, Kim JH, Na DL, Suh YL, Hwang SJ, Lee JH, Lee YM, Shin MJ, Lee MJ, Kim SJ, Yoon U, Park DY, Jung DS, Ahn JW, Sung S, Huh GY.

J Neurol Sci. 2015 Feb 15;349(1-2):232-8. doi: 10.1016/j.jns.2014.12.021. Epub 2014 Dec 20.

PMID:
25563800
12.

CSF1R mutations link POLD and HDLS as a single disease entity.

Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R.

Neurology. 2013 Mar 12;80(11):1033-40. doi: 10.1212/WNL.0b013e31828726a7. Epub 2013 Feb 13.

13.

A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.

Gore E, Manley A, Dees D, Appleby BS, Lerner AJ.

Neurocase. 2016 Jun;22(3):257-62. doi: 10.1080/13554794.2016.1175635. Epub 2016 Apr 19.

PMID:
27092868
14.

Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family: Case report and literature review.

Shi T, Li J, Tan C, Chen J.

Medicine (Baltimore). 2019 May;98(22):e15802. doi: 10.1097/MD.0000000000015802. Review.

15.

Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP).

Chitu V, Gokhan S, Gulinello M, Branch CA, Patil M, Basu R, Stoddart C, Mehler MF, Stanley ER.

Neurobiol Dis. 2015 Feb;74:219-28. doi: 10.1016/j.nbd.2014.12.001. Epub 2014 Dec 9.

16.

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L.

Neurology. 2013 Dec 3;81(23):2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac. Epub 2013 Nov 6.

PMID:
24198292
17.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement.

Körtvelyessy P, Krägeloh-Mann I, Mawrin C, Heinze HJ, Bittner D, Wieland I, Zenker M, Nestor P.

J Neurol Sci. 2015 Nov 15;358(1-2):515-7. doi: 10.1016/j.jns.2015.09.370. Epub 2015 Sep 28. No abstract available.

PMID:
26476772
18.

Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.

Riku Y, Ando T, Goto Y, Mano K, Iwasaki Y, Sobue G, Yoshida M.

J Neuropathol Exp Neurol. 2014 Dec;73(12):1183-90. doi: 10.1097/NEN.0000000000000139.

PMID:
25383640
19.

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Hoffmann S, Murrell J, Harms L, Miller K, Meisel A, Brosch T, Scheel M, Ghetti B, Goebel HH, Stenzel W.

Brain Pathol. 2014 Sep;24(5):452-8. doi: 10.1111/bpa.12120. Epub 2014 Mar 16.

PMID:
24428556
20.

Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.

Shu Y, Long L, Liao S, Yang J, Li J, Qiu W, Yang Y, Bao J, Wu A, Hu X, Lu Z.

BMC Neurol. 2016 Sep 13;16:171. doi: 10.1186/s12883-016-0694-0.

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