Marjo van der Knaap

PROF.DR.

19992019
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Research Output 1999 2019

2017

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation with Prenatal Phenotype in 2 Siblings

Song, H., Haeri, S., Vogel, H., Van Der Knaap, M. & Van Haren, K., 1 Sep 2017, In : Journal of Child Neurology. 32, 10, p. 867-870 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Proteomic and metabolomic analyses of vanishing white matter mouse astrocytes reveal deregulation of ER functions

Wisse, L. E., Penning, R., Zaal, E. A., van Berkel, C. G. M., ter Braak, T. J., Polder, E., Kenney, J. W., Proud, C. G., Berkers, C. R., Altelaar, M. A. F., Speijer, D., van der Knaap, M. S. & Abbink, T. E. M., 20 Dec 2017, In : Frontiers in Cellular Neuroscience. 11, 411.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

Naik, N., Shah, A., Wamelink, M. M. C., Van Der Knaap, M. S. & Hingwala, D., 1 Sep 2017, In : Neurology. 89, 11, p. 1195-1196 2 p.

Research output: Contribution to journalShort surveyAcademicpeer-review

The multiple faces of TUBB4A mutations: from hypomyelination to adult dystonia

Hamilton, E. M., Bugiani, M., Wolf, N. I., Vanderver, A., Duncan, I., Abbink, T. E. & van der Knaap, M. S., Jul 2017, In : European Journal of Neurology. 24, p. 74-74

Research output: Contribution to journalMeeting AbstractAcademic

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Curiel, J., Bey, G. R., Takanohashi, A., Bugiani, M., Fu, X., Wolf, N. I., Nmezi, B., Schiffmann, R., Bugaighis, M., Pierson, T., Helman, G., Simons, C., van der Knaap, M. S., Liu, J., Padiath, Q. & Vanderver, A., 2017, In : Human Molecular Genetics. 26, 22, p. 4506-4518 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

2-hydroxyglutaric aciduria

Struys, EA., van der Knaap, MS. & Salomons, GS., 18 Aug 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, CEM. & Lachmann, R. (eds.). Oxford University Press, Chapter 22

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL

Kevelam, S. H., Klouwer, F. C. C., Fock, J. M., Salomons, G. S., Bugiani, M. & van der Knaap, M. S., Jan 2016, In : Neuropediatrics. 47, 1, p. 64-67

Research output: Contribution to journalArticleAcademicpeer-review

Acute intermittent porphyria-related leukoencephalopathy

Kevelam, S. H., Neeleman, R. A., Waisfisz, Q., Friesema, E. C. H., Langendonk, J. G. & Van Der Knaap, M. S., 20 Sep 2016, In : Neurology. 87, 12, p. 1258-1265 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Astrocytes are central in the pathomechanisms of vanishing white matter

Dooves, S., Bugiani, M., Postma, N. L., Polder, E., Land, N., Horan, S. T., van Deijk, A-L. F., van de Kreeke, A., Jacobs, G., Jacobs, G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, T. E. M., Heine, V. M. & van der Knaap, M. S., Apr 2016, In : Journal of Clinical Investigation. 126, 4, p. 1512-1524

Research output: Contribution to journalArticleAcademicpeer-review

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Oberstein, S. A. M. J. L. & van der Knaap, M. S., 25 Oct 2016, In : Neurology. 87, 17, p. 1777-1786 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diffuse hypomyelination is not obligate for POLR3-related disorders

La Piana, R., Cayami, F. K., Tran, L. T., Guerrero, K., van Spaendonk, R., Ounap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-The, B. T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkinay, F., Vanderver, A., van der Knaap, M. S., Wolf, N. I. & 1 othersBernard, G., 26 Apr 2016, In : Neurology. 86, 17, p. 1622-1626

Research output: Contribution to journalArticleAcademicpeer-review

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

van Rappard, D. F., Boelens, J. J., van Egmond, M. E., Kuball, J., van Hasselt, P. M., Oostrom, K. J., Pouwels, P. J. W., van der Knaap, M. S., Hollak, C. E. M. & Wolf, N. I., 16 Jun 2016, In : Blood. 127, 24, p. 3098-3101

Research output: Contribution to journalArticleAcademicpeer-review

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

van Rappard, D. F., Bugiani, M., Boelens, J. J., van der Steeg, A., Daams, F., de Meij, T. G. J., van Doorn, M. M. A. C., van Hasselt, P. M., Gouma, D. J., Verbeke, J. I. M. L., Hollak, C. E. M., van Hecke, W., Salomons, G. S., van der Knaap, M. & Wolf, N. I., 5 Jul 2016, In : Neurology. 87, 1, p. 103-111

Research output: Contribution to journalArticleAcademicpeer-review

Leukodystrophies: Five new things

Van Der Knaap, M. S., Wolf, N. I. & Heine, V. M., 1 Dec 2016, In : Neurology: Clinical Practice. 6, 6, p. 506-514 9 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study

Stellitano, L. A., Winstone, A. M., van der Knaap, M. S. & Verity, C. M., 1 Jul 2016, In : Developmental Medicine and Child Neurology. 58, 7, p. 680-689 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 othersKurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E., 1 Mar 2016, In : Brain. 139, p. 782-794

Research output: Contribution to journalArticleAcademicpeer-review

Magnetic Resonance Imaging Spectrum of Succinate Dehydrogenase-Related Infantile Leukoencephalopathy

Helman, G., Caldovic, L., Whitehead, M. T., Simons, C., Brockmann, K., Edvardson, S., Bai, R., Moroni, I., Taylor, J. M., Van Haren, K., Taft, R. J., Vanderver, A. & van der Knaap, M. S., Mar 2016, In : Annals of Neurology. 79, 3, p. 379-386

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., Baerlocher, G. M., Haubitz, M., Aubert, G., Baranano, K. W., Barnicoat, A. J., Battini, R., Berger, A., Blair, E. M. & 46 othersBrunstrom-Hernandez, J. E., Buckard, J. A., Cassiman, D. M., Caumes, R., Cordelli, D. M., De Waele, L. M., Fay, A. J., Ferreira, P., Fletcher, N. A., Fryer, A. E., Goel, H., Hemingway, C. A., Henneke, M., Hughes, I., Jefferson, R. J., Kumar, R., Lagae, L., Landrieu, P. G., Lourenco, C. M., Malpas, T. J., Mehta, S. G., Metz, I., Naidu, S., Ounap, K., Panzer, A., Prabhakar, P., Quaghebeur, G., Schiffmann, R., Sherr, E. H., Sinnathuray, K. R., Soh, C., Stewart, H. S., Stone, J., Van Esch, H., Van Mol, C. E. G., Vanderver, A., Wakeling, E. L., Whitney, A., Pavitt, G. D., Griffiths-Jones, S., Rice, G. I., Revy, P., van der Knaap, M. S., Livingston, J. H., O'Keefe, R. T. & Crow, Y. J., Oct 2016, In : Nature Genetics. 48, 10, p. 1185-1192

Research output: Contribution to journalArticleAcademicpeer-review

Novel brain white matter disorders and their genetic causes

Kevelam, S. H. G., 2016

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap

Steenweg, M. E., Wolf, N. I., van Wieringen, W. N., Barkhof, F., van der Knaap, M. S. & Pouwels, P. J. W., 23 Aug 2016, In : Neurology. 87, 8, p. 752-758

Research output: Contribution to journalArticleAcademicpeer-review

Specific MRI abnormalities reveal severe perrault syndrome due to CLPP defects

Theunissen, T. E. J., Szklarczyk, R., Gerards, M., Hellebrekers, D. M. E. I., Mulder-Den Hartog, E. N. M., Vanoevelen, J., Kamps, R., de Koning, B., Lane Rutledge, S., Schmitt-Mechelke, T., van Berkel, C. G. M., van der Knaap, M. S., de Coo, I. F. M. & Smeets, H. J. M., 16 Nov 2016, In : Frontiers in Neurology. 7, NOV, 203.

Research output: Contribution to journalArticleAcademicpeer-review

Stem cell therapy for white matter disorders: don't forget the microenvironment!

Dooves, S., van der Knaap, M. S. & Heine, V. M., Jul 2016, In : Journal of Inherited Metabolic Disease. 39, 4, p. 513-518

Research output: Contribution to journalArticleAcademicpeer-review

TUBB4A -Related Leukodystrophy

Nahhas, N., Conant, A., Hamilton, E., Curiel, J., Simons, C., van der Knaap, M. & Vanderver, A., 2016, University of Washington, Seattle.

Research output: Book/ReportBookAcademic

TUBB4A-Related Leukodystrophy

Nahhas, N., Conant, A., Hamilton, EMC., Curiel, J., Simons, C., van der Knaap, MS. & Vanderver, A., 3 Nov 2016, GeneReviews® [Internet]. Pagon, RA., Adam, MP., Ardinger, HH. & E. A. (eds.). Seattle (WA), USA: University of Washington, Seattle, Vol. 1993-2017.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, S. H., Steenweg, M. E., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N. I. & van der Knaap, M. S., Nov 2016, In : Neuropediatrics. 47, 6, p. 349-354

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exome Sequencing in Patients with White Matter Abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., Khouzam, A., Rajan, V., Ramos, E., Chowdhury, S., Hambuch, T., Ru, K., Baillie, G. J., Grimmond, S. M., Caldovic, L., Devaney, J. & 8 othersBloom, M., Evans, S. H., Murphy, J. L. P., McNeill, N., Fogel, B. L., Schiffmann, R., van der Knaap, M. S. & Taft, R. J., Jun 2016, In : Annals of Neurology. 79, 6, p. 1031-1037

Research output: Contribution to journalArticleAcademicpeer-review

2015

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

Parikh, S., Bernard, G., Leventer, R. J., van der Knaap, M. S., ten Hove, J., Pizzino, A., McNeill, N. H., Helman, G., Simons, C., Schmidt, J. L., Rizzo, W. B., Patterson, M. C., Taft, R. J. & Vanderver, A., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 501-515

Research output: Contribution to journalArticleAcademicpeer-review

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Ostergaard, J. R., Friederich, R. L., Elsaid, M. F., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E. & 6 othersvan Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 6, p. 648-661

Research output: Contribution to journalArticleAcademicpeer-review

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol, R. J., Benninga, M., Magre, J., van Maldergem, L., Rotteveel, J., van der Knaap, M. S. & de Meij, T. G. J., 2015, In : European Journal of Pediatrics. 174, 7, p. 975-980

Research output: Contribution to journalArticleAcademicpeer-review

Case definition and classification of leukodystrophies and leukoencephalopathies

Vanderver, A., Prust, M., Tonduti, D., Mochel, F., Hussey, H. M., Helman, G., Garbern, J., Eichler, F., Labauge, P., Aubourg, P., Rodriguez, D., Patterson, M. C., van Hove, J. LK., Schmidt, J., Wolf, N. I., Boespflug-Tanguy, O., Schiffmann, R. & van der Knaap, M. S., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 494-500

Research output: Contribution to journalArticleAcademicpeer-review

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Crow, Y. J., Chase, D. S., Schmidt, J. L., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-Hamid, M. S., Abdel-Salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-Shalev, S., Arellano, M., Ariaudo, G., Aswani, V. & 82 othersBabul-Hirji, R., Baildam, E. M., Bahi-Buisson, N., Bailey, K. M., Barnerias, C., Barth, M., Battini, R., Beresford, M. W., Bernard, G., Bianchi, M., de Villemeur, T. B., Blair, E. M., Bloom, M., Burlina, A. B., Carpanelli, M. L., Carvalho, D. R., Castro-Gago, M., Cavallini, A., Cereda, C., Chandler, K. E., Chitayat, D. A., Collins, A. E., Corcoles, C. S., Cordeiro, N. J. V., Crichiutti, G., Dabydeen, L., Dale, R. C., D'Arrigo, S., De Goede, C. G. E. L., de Laet, C., De Waele, L. M. H., Denzler, I., Desguerre, I., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Ferrie, C. D., Figueiredo, A., Gener, B., Goizet, C., Gowrinathan, N. R., Gowrishankar, K., Hanrahan, D., Isidor, B., Kara, L., Khan, N., King, M. D., Kirk, E. P., Kumar, R., Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., La Piana, R., Lim, M. J., Lin, J. P. S. M., Linnankivi, T., Mackay, M. T., Marom, D. R., Lourenco, C. M., McKee, S. A., Moroni, I., Morton, J. E. V., Moutard, M. L., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-Enamorado, N., Oades, P. J., Olivieri, I., Ostergaard, J. R., Perez-Duenas, B., Prendiville, J. S., Ramesh, V., Rasmussen, M., Regal, L., Ricci, F., Rio, M., Knaap, M., Orcesi, S. & Rice, G. I., 2015, In : American Journal of Medical Genetics Part A. 167, 2, p. 296-312

Research output: Contribution to journalArticleAcademicpeer-review

Childhood white matter disorders: Research at the interface of MRI, clinical phenotype and genetics

Steenweg, M. E., 2015

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

45 Downloads (Pure)

Comparing and contrasting white matter disorders: a neuropathological approach to pathophysiology

Bugiani, M., 2015

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

File
137 Downloads (Pure)

Comprehension of spoken language in non-speaking children with severe cerebral palsy: Development and application of a newly developed Computer-Based instrument for low motor language testing (C-BiLLT)

Geytenbeek, J. J. M., 2015

Research output: ThesisResearch VU University Amsterdam, graduation VU University AmsterdamAcademic

File

CSF and Blood Levels of GFAP in Alexander Disease

Jany, P. L., Agosta, G. E., Benko, W. S., Eickhoff, J. C., Keller, S. R., Koehler, W., Koeller, D., Mar, S., Naidu, S., Marie Ness, J., Pareyson, D., Renaud, D. L., Salsano, E., Schiffmann, R., Simon, J., Vanderver, A., Eichler, F., van der Knaap, M. S. & Messing, A., 2015, In : eNeuro. 2, 5

Research output: Contribution to journalArticleAcademicpeer-review

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

Wolf, N. I., Toro, C., Kister, I., Abd Latif, K., Leventer, R., Pizzino, A., Simons, C., Abbink, G. E. M., Taft, R. J., van der Knaap, M. S. & Vanderver, A., 2015, In : Neurology. 84, 3, p. 226-230

Research output: Contribution to journalArticleAcademicpeer-review

Disease specific therapies in leukodystrophies and leukoencephalopathies

Helman, G., van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., Suhr, D., Patterson, M. C., Fatemi, S. A., Leonard, J., van der Knaap, M. S., Back, S. A., Damiani, S., Goldman, S. A., Takanohashi, A., Petryniak, M., Rowitch, D., Messing, A., Wrabetz, L., Schiffmann, R. & 3 othersEichler, F., Escolar, M. L. & Vanderver, A., 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 527-536

Research output: Contribution to journalArticleAcademicpeer-review

Early-Onset Aicardi-Goutieres Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition

Vanderver, A., Prust, M., Kadom, N., Demarest, S., Crow, Y. J., Helman, G., Orcesi, S., La Piana, R., Uggetti, C., Wang, J. C., Gordisch-Dressman, H., van der Knaap, M. S. & Livingston, J. H., 2015, In : Journal of Child Neurology. 30, 10, p. 1343-1348

Research output: Contribution to journalArticleAcademicpeer-review

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Kariminejad, A., Rajaee, A., Ashrafi, M. R., Alizadeh, H., Tonekaboni, S. H., Malamiri, R. A., Ghofrani, M., Karimzadeh, P., Mohammadi, M. M., Baghalshooshtari, A., Bozorgmehr, B., Kariminejad, M. H., Postma, N., Abbink, G. E. M. & van der Knaap, M. S., 2015, In : European Journal of Medical Genetics. 58, 2, p. 71-74

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination and Congenital Cataract

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., Knaap, M. & Minetti, C., 2015, GeneReviews® [internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome

Klok, M. D., Bakels, H. S., Postma, N. L., van Spaendonk, R. M. L., van der Knaap, M. S. & Bugiani, M., 2015, In : Annals of Clinical and Translational Neurology. 2, 7, p. 774-779

Research output: Contribution to journalArticleAcademicpeer-review

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G. A., Tran, L. T., Benko, W., Knaap, M., van Spaendonk, R. M. L., Wolf, N. I. & Bernard, G., 2015, In : Orphanet Journal of Rare Diseases. 10, 69.

Research output: Contribution to journalArticleAcademicpeer-review

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle

Dubey, M., Bugiani, M., Ridder, M. C., Postma, N. L., Brouwers, E., Polder, E., Jacobs, J. G., Baaijen, J. C., Klooster, J., Kamermans, M., Aardse, R., de Kock, C. P. J., Dekker, M. P., van Weering, J. R. T., Heine, V. M., Abbink, T. E. M., Scheper, G. C., Boor, P. K. I., Lodder, J. C., Mansvelder, H. D. & 1 othersKnaap, M., 2015, In : Annals of Neurology. 77, 11, p. 114-131

Research output: Contribution to journalArticleAcademicpeer-review

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., Knaap, M., Bernard, G. & Wolf, N. I., 2015, In : Neuropediatrics. 46, 3, p. 221-227

Research output: Contribution to journalArticleAcademicpeer-review

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Kevelam, S. H., Bierau, J., Salvarinova, R., Agrawal, S., Honzik, T., Visser, D., Weiss, M. M., Salomons, G., Abbink, T. E. M., Waisfisz, Q. & van der Knaap, M. S., 2015, In : Annals of Neurology. 78, 4, p. 649-658

Research output: Contribution to journalArticleAcademicpeer-review

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Thiffault, I., Wolf, N. I., Forget, D., Guerrero, K., Tran, L. T., Choquet, K., Lavalleee-Adam, M., Poitras, C., Brais, B., Yoon, G., Sztriha, L., Webster, R. I., Timmann, D., de Warrenburg, B. P. V., Seeger, J., Zimmermann, A., Mate, A., Goizet, C., Fung, E., van der Knaap, M. S. & 7 othersFribourg, S., Vanderver, A., Simons, C., Taft, R. J., Yates, J. R., Coulombe, B. & Bernard, G., 2015, In : Nature Communications. 6, 7623.

Research output: Contribution to journalArticleAcademicpeer-review