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

N.I. Wolf; A. Vanderver; R.M.L. van Spaendonk; R. Schiffmann; B. Brais; M. Bugiani; E.A. Sistermans; C. Catsman-Berrevoets; J.M. Kros; P.S. Pinto; D. Pohl; S. Tirupathi; P. Stromme; T. de Grauw; S. Fribourg; M. Demos; A. Pizzino; S. Naidu; K. Guerrero; M.S. van der Knaap; G. Bernard

doi:10.1212/WNL.0000000000001002

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

N.I. Wolf
, A. Vanderver
, R.M.L. van Spaendonk
, R. Schiffmann
, B. Brais
, M. Bugiani
, E.A. Sistermans
, C. Catsman-Berrevoets
, J.M. Kros
, P.S. Pinto
, D. Pohl
, S. Tirupathi
, P. Stromme
, T. de Grauw
, S. Fribourg
, M. Demos
, A. Pizzino
, S. Naidu
, K. Guerrero
, M.S. van der Knaap

G. Bernard

Research output: Contribution to Journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1898-1905
Journal	Neurology
Volume	83
Issue number	21
DOIs	https://doi.org/10.1212/WNL.0000000000001002
Publication status	Published - 2014

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10.1212/WNL.0000000000001002

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Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E. A., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Stromme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu, S., Guerrero, K., ... Bernard, G. (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology, 83(21), 1898-1905. https://doi.org/10.1212/WNL.0000000000001002

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title = "Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations",

author = "N.I. Wolf and A. Vanderver and \{van Spaendonk\}, R.M.L. and R. Schiffmann and B. Brais and M. Bugiani and E.A. Sistermans and C. Catsman-Berrevoets and J.M. Kros and P.S. Pinto and D. Pohl and S. Tirupathi and P. Stromme and \{de Grauw\}, T. and S. Fribourg and M. Demos and A. Pizzino and S. Naidu and K. Guerrero and \{van der Knaap\}, M.S. and G. Bernard",

year = "2014",

doi = "10.1212/WNL.0000000000001002",

language = "English",

volume = "83",

pages = "1898--1905",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

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}

Wolf, NI, Vanderver, A, van Spaendonk, RML, Schiffmann, R, Brais, B, Bugiani, M, Sistermans, EA, Catsman-Berrevoets, C, Kros, JM, Pinto, PS, Pohl, D, Tirupathi, S, Stromme, P, de Grauw, T, Fribourg, S, Demos, M, Pizzino, A, Naidu, S, Guerrero, K, van der Knaap, MS & Bernard, G 2014, 'Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations', Neurology, vol. 83, no. 21, pp. 1898-1905. https://doi.org/10.1212/WNL.0000000000001002

TY - JOUR

T1 - Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

AU - Wolf, N.I.

AU - Vanderver, A.

AU - van Spaendonk, R.M.L.

AU - Schiffmann, R.

AU - Brais, B.

AU - Bugiani, M.

AU - Sistermans, E.A.

AU - Catsman-Berrevoets, C.

AU - Kros, J.M.

AU - Pinto, P.S.

AU - Pohl, D.

AU - Tirupathi, S.

AU - Stromme, P.

AU - de Grauw, T.

AU - Fribourg, S.

AU - Demos, M.

AU - Pizzino, A.

AU - Naidu, S.

AU - Guerrero, K.

AU - van der Knaap, M.S.

AU - Bernard, G.

PY - 2014

Y1 - 2014

UR - https://www.scopus.com/pages/publications/84961290480

UR - https://www.scopus.com/pages/publications/84961290480#tab=citedBy

U2 - 10.1212/WNL.0000000000001002

DO - 10.1212/WNL.0000000000001002

M3 - Article

SN - 0028-3878

VL - 83

SP - 1898

EP - 1905

JO - Neurology

JF - Neurology

IS - 21

ER -

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

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