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Items: 1 to 20 of 31

1.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ.

Front Neurol. 2016 Nov 16;7:203. eCollection 2016.

2.

Cockayne syndrome: a diffusion tensor imaging and volumetric study.

Koob M, Rousseau F, Laugel V, Meyer N, Armspach JP, Girard N, Dietemann JL.

Br J Radiol. 2016 Nov;89(1067):20151033. Epub 2016 Sep 19.

PMID:
27643390
3.

Whole exome sequencing in patients with white matter abnormalities.

Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JL, McNeill N, Fogel BL; Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ.

Ann Neurol. 2016 Jun;79(6):1031-7. doi: 10.1002/ana.24650. Epub 2016 May 9.

4.

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.

Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, Malczyk K, Guerrero K, Gutierrez M, Tran L, Bernard G.

Clin Neuroradiol. 2017 Jun;27(2):213-220. doi: 10.1007/s00062-015-0472-1. Epub 2015 Oct 19.

5.

Diversity Matters: A Revised Guide to Myelination.

Tomassy GS, Dershowitz LB, Arlotta P.

Trends Cell Biol. 2016 Feb;26(2):135-47. doi: 10.1016/j.tcb.2015.09.002. Epub 2015 Oct 3. Review.

6.

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI.

Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 1.

7.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH.

Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9.

8.

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H, Dai L, Chen N, Zang L, Leng X, Du L, Wang J, Jiang Y, Zhang F, Wu X, Wu Y.

PLoS One. 2015 Mar 11;10(3):e0118001. doi: 10.1371/journal.pone.0118001. eCollection 2015.

9.

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium.

Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Review.

10.

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A.

Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub 2014 Dec 19.

11.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.

Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.

12.

Novel (ovario) leukodystrophy related to AARS2 mutations.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.

Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7.

13.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS.

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

14.

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.

Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ.

Pediatr Neurol. 2014 Jan;50(1):112-4. doi: 10.1016/j.pediatrneurol.2013.06.024. Epub 2013 Oct 10.

15.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI.

Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006.

16.

Hypomyelinating leukoencephalopathy.

Syed RA.

Sultan Qaboos Univ Med J. 2013 Feb;13(1):192-3. Epub 2013 Feb 27. No abstract available.

17.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.

Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.

18.

Determinants of health care use in a population-based leukodystrophy cohort.

Nelson C, Mundorff MB, Korgenski EK, Brimley CJ, Srivastava R, Bonkowsky JL.

J Pediatr. 2013 Mar;162(3):624-628.e1. doi: 10.1016/j.jpeds.2012.08.046. Epub 2012 Oct 13.

19.

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.

20.

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

Steenweg ME, Vanderver A, Ceulemans B, Prabhakar P, Régal L, Fattal-Valevski A, Richer L, Simonetti BG, Barkhof F, Rodenburg RJ, Pouwels PJ, van der Knaap MS.

Arch Neurol. 2012 Jun;69(6):718-22. doi: 10.1001/archneurol.2011.1048.

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