20042020

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Article
2020

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

Verberne, E. A., Dalen Meurs, L., Wolf, N. I. & van Haelst, M. M., 1 Jul 2020, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1776-1779 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B. P. & Wolf, N. I., 1 Jan 2020, (Accepted/In press) In : Neurogenetics. 21, 4, 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Küsters, B., van Emst-de Vries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M. & Rodenburg, R. J., 1 Apr 2020, In : Clinical Genetics. 97, 4, p. 556-566 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 1 Feb 2019, In : Genetics in Medicine. 21, 2, p. 319-330

Research output: Contribution to journalArticleAcademicpeer-review

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

Vals, M-A., Ashikov, A., Ilves, P., Loorits, D., Zeng, Q., Barone, R., Huijben, K., Sykut-Cegielska, J., Diogo, L., Elias, A. F., Greenwood, R. S., Grunewald, S., van Hasselt, P. M., van de Kamp, J. M., Mancini, G., Okninska, A., Pajusalu, S., Rudd, P. M., Rustad, C. F., Salvarinova, R. & 5 others, de Vries, B. B. A., Wolf, N. I., Lefeber, D. J., Õunap, K. & EPGEN Study, 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 553-564 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E-J., van de Warrenburg, B. P. & Willemsen, M. A., 1 Jul 2019, In : Brain. 142, 7, p. e31

Research output: Contribution to journalArticleAcademicpeer-review

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Horn, S., Au, M., Basel-Salmon, L., Bayrak-Toydemir, P., Chapin, A., Cohen, L., Elting, M. W., Graham, J. M., Gonzaga-Jauregui, C., Konen, O., Holzer, M., Lemke, J., Miller, C. E., Rey, L. K., Wolf, N. I., Weiss, M. M., Waisfisz, Q., Mirzaa, G. M., Wieczorek, D., Sticht, H. & 1 others, Jamra, R. A., 1 Nov 2019, In : Brain. 142, 11, p. 3351-3359 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Dystonia in RNA Polymerase III-Related Leukodystrophy

Al Yazidi, G., Tran, L. T., Guerrero, K., Vanderver, A., Schiffmann, R., Wolf, N. I., Chouinard, S. & Bernard, G., 1 Feb 2019, In : Movement Disorders Clinical Practice. 6, 2, p. 155-159 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Een 4-jarig meisje met dubbelzien na een trauma

Translated title of the contribution: A 4-year-old girl with double vision following traumavan Berkel, M. M., Wolf, N. I., van de Ven, S. J. N., Kraal-Biezen, E. & van de Pol, L. A., 2019, In : Nederlands Tijdschrift voor Geneeskunde. 163, 39, D3965.

Research output: Contribution to journalArticleProfessional

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., van der Walt, A., de Coo, I. F. M., McGowan, A., Lyons, G., Aarsen, F. K., Barca, D., van Beynum, I. M., van der Knoop, M. M., Jansen, J., Manshande, M. & 26 others, Lunsing, R. J., Nowak, S., den Uil, C. A., Zillikens, M. C., Visser, F. E., Vrijmoeth, P., de Wit, M. C. Y., Wolf, N. I., Zandstra, A., Ambegaonkar, G., Singh, Y., de Rijke, Y. B., Medici, M., Bertini, E. S., Depoorter, S., Lebl, J., Cappa, M., de Meirleir, L., Krude, H., Craiu, D., Zibordi, F., Oliver Petit, I., Polak, M., Chatterjee, K., Visser, T. J. & Visser, W. E., 1 Sep 2019, In : The Lancet Diabetes and Endocrinology. 7, 9, p. 695-706

Research output: Contribution to journalArticleAcademicpeer-review

Intrathecal baclofen in metachromatic leukodystrophy

Van Der Veldt, N., Van Rappard, D. F., Van De Pol, L. A., Van Der Knaap, M. S., Van Ouwerkerk, W. J., Becher, J. G., Wolf, N. I. & Buizer, A. I., 1 Feb 2019, In : Developmental Medicine and Child Neurology. 61, 2, p. 232-235 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Oculodentodigital dysplasia: A hypomyelinating leukodystrophy with a characteristic MRI pattern of brain stem involvement

Harting, I., Karch, S., Moog, U., Seitz, A., Pouwels, P. J. W. & Wolf, N. I., 1 Jan 2019, In : American Journal of Neuroradiology. 40, 5, p. 903-907 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Elgün, S., Waibel, J., Kehrer, C., van Rappard, D., Böhringer, J., Beck-Wödl, S., Just, J., Schöls, L., Wolf, N., Krägeloh-Mann, I. & Groeschel, S., 11 Jun 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 136.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights

Johnstone, D. L., Al-Shekaili, H. H., Tarailo-Graovac, M., Wolf, N. I., Ivy, A. S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C. W. T., Kernohan, K. D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R. A., Koul, R., Al Futaisi, A., Haaxma, C. A., Olson, H. & 33 others, Sigurdardottir, L. Y., Arnold, G. L., Gerkes, E. H., Boon, M., Heiner-Fokkema, M. R., Noble, S., Bosma, M., Jans, J., Koolen, D. A., Kamsteeg, E-J., Drögemöller, B., Ross, C. J., Majewski, J., Cho, M. T., Begtrup, A., Wasserman, W. W., Bui, T., Brimble, E., Violante, S., Houten, S. M., Wevers, R. A., van Faassen, M., Kema, I. P., Lepage, N., Lines, M. A., Dyment, D. A., Wanders, R. J. A., Verhoeven-Duif, N., Ekker, M., Boycott, K. M., Friedman, J. M., Pena, I. A. & van Karnebeek, C. D. M., 1 Mar 2019, In : Brain. 142, 3, p. 542-559

Research output: Contribution to journalArticleAcademicpeer-review

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

van Egmond, M. E., Contarino, M. F., Lugtenberg, C. H. A., Peall, K. J., Brouwer, O. F., Fung, V. S. C., Roze, E., Stewart, R. E., Willemsen, M. A., Wolf, N. I., de Koning, T. J. & Tijssen, M. A., 1 Mar 2019, In : Movement Disorders. 34, 3, p. 317-320

Research output: Contribution to journalArticleAcademicpeer-review

2018

4H Leukodystrophy: Lessons from 3T Imaging

Cayami, F. K., Bugiani, M., Pouwels, P. J. W., Bernard, G., van der Knaap, M. S. & Wolf, N. I., Apr 2018, In : Neuropediatrics. 49, 2, p. 112-117

Research output: Contribution to journalArticleAcademicpeer-review

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., de Grandis, E. & 19 others, Altmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S. & Gleeson, J. G., 2018, In : American journal of human genetics. 103, 3, p. 431-439

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I., Salazar, M. G., Guerrero, K., Thiffault, I., Salomons, G. S., Gauquelin, L., Tran, L. T., Forget, D., Gauthier, M-S., Waisfisz, Q., Smith, D. E. C., Simons, C., van der Knaap, M. S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N. I. & 1 others, Bernard, G., 5 Apr 2018, In : American journal of human genetics. 102, 4, p. 676-684

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diffusion tensor imaging in metachromatic leukodystrophy

van Rappard, D. F., Königs, M., Steenweg, M. E., Boelens, J. J., Oosterlaan, J., van der Knaap, M. S., Wolf, N. I. & Pouwels, P. J. W., 1 Mar 2018, In : Journal of Neurology. 265, 3, p. 659-668 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Ito, Y., Hartley, T., Baird, S., Venkateswaran, S., Simons, C., Wolf, N. I., Boycott, K. M., Dyment, D. A. & Kernohan, K. D., 2018, In : Neurology: Genetics. 4, 6, e288.

Research output: Contribution to journalArticleAcademicpeer-review

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Hamilton, E. M. C., Tekturk, P., Cialdella, F., van Rappard, D. F., Wolf, N. I., Yalcinkaya, C., Çetinçelik, Ü., Rajaee, A., Kariminejad, A., Paprocka, J., Yapici, Z., Bošnjak, V. M., van der Knaap, M. S. & MLC Research Group, 17 Apr 2018, In : Neurology. 90, 16, p. e1395-e1403

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

POLR3A variants in hereditary spastic paraplegia and ataxia

Gauquelin, L., Tetreault, M., Thiffault, I., Farrow, E., Miller, N., Yoo, B., Bareke, E., Yoon, G., Suchowersky, O., Dupre, N., Tarnopolsky, M., Brais, B., Wolf, N. I., Majewski, J., Rouleau, G. A., Gan-Or, Z. & Bernard, G., Jan 2018, In : Brain. 141

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Alhaddad, B., Schossig, A., Haack, T. B., Kovács-Nagy, R., Braunisch, M. C., Makowski, C., Senderek, J., Vill, K., Müller-Felber, W., Strom, T. M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N. I., Desguerre, I., Wörmann, F., Rötig, A., Ahting, U., Kopajtich, R. & 9 others, Prokisch, H., Meitinger, T., Feichtinger, R. G., Mayr, J. A., Jungbluth, H., Hubmann, M., Zschocke, J., Distelmaier, F. & Koch, J., 2018, In : Neuropediatrics. 49, 5, p. 330-338

Research output: Contribution to journalArticleAcademicpeer-review

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment

van Rappard, D. F., Klauser, A., Steenweg, M. E., Boelens, J. J., Bugiani, M., van der Knaap, M. S., Wolf, N. I. & Pouwels, P. J. W., 1 Jan 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. p. 105-111 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Vrij-Van Den Bos, S., Hol, J. A., La Piana, R., Harting, I., Vanderver, A., Barkhof, F., Cayami, F., Van Wieringen, W. N., Pouwels, P. J. W., Van Der Knaap, M. S., Bernard, G. & Wolf, N. I., 1 Jun 2017, In : Neuropediatrics. 48, 3, p. 152-160 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination

Duncan, I. D., Bugiani, M., Radcliff, A. B., Moran, J. J., Lopez-Anido, C., Duong, P., August, B. K., Wolf, N. I., van der Knaap, M. S. & Svaren, J., 1 May 2017, In : Annals of Neurology. 81, 5, p. 690-702 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

A Post Hoc Study on Gene Panel Analysis for the Diagnosis of Dystonia

van Egmond, M. E., Lugtenberg, C. H. A., Brouwer, O. F., Contarino, M. F., Fung, V. S. C., Heiner-Fokkema, M. R., van Hilten, J. J., van der Hout, A. H., Peall, K. J., Sinke, R. J., Roze, E., Verschuuren-Bemelmans, C. C., Willemsen, M. A., Wolf, N. I., Tijssen, M. A. & de Koning, T. J., Apr 2017, In : Movement Disorders. 32, 4, p. 569-575

Research output: Contribution to journalArticleAcademicpeer-review

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Simons, C., Dyment, D., Bent, S. J., Crawford, J., D'Hooghe, M., Kohlschuetter, A., Venkateswaran, S., Helman, G., Poll-The, B-T., Makowski, C. C., Ito, Y., Kernohan, K., Hartley, T., Waisfisz, Q., Taft, R. J., van der Knaap, M. S. & Wolf, N. I., Dec 2017, In : Brain. 140, p. 3105-3111

Research output: Contribution to journalArticleAcademicpeer-review

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, I., Aiello, C., Simons, C., Stone, R. T., Niceta, M., Elmaleh, M., Abuawad, M., Doummar, D., Bruselles, A., Wolf, N. I., Travaglini, L., Boespflug-Tanguy, O., Tartaglia, M., Vanderver, A., Rodriguez, D. & Bertini, E., Oct 2017, In : Brain. 140, p. 2550-2556

Research output: Contribution to journalArticleAcademicpeer-review

Non-motor symptoms and quality of life in dopa-responsive dystonia patients

Timmers, E. R., Kuiper, A., Smit, M., Bartels, A. L., Kamphuis, D. J., Wolf, N. I., Poll-The, B. T., Wassenberg, T., Peeters, E. A. J., de Koning, T. J. & Tijssen, M. A. J., Dec 2017, In : Parkinsonism and Related Disorders. 45, p. 57-62

Research output: Contribution to journalArticleAcademicpeer-review

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Adang, L. A., Sherbini, O., Ball, L., Bloom, M., Darbari, A., Amartino, H., DiVito, D., Eichler, F., Escolar, M., Evans, S. H., Fatemi, A., Fraser, J., Hollowell, L., Jaffe, N., Joseph, C., Karpinski, M., Keller, S., Maddock, R., Mancilla, E., McClary, B. & 21 others, Mertz, J., Morgart, K., Langan, T., Leventer, R., Parikh, S., Pizzino, A., Prange, E., Renaud, D. L., Rizzo, W., Shapiro, J., Suhr, D., Suhr, T., Tonduti, D., Waggoner, J., Waldman, A., Wolf, N. I., Zerem, A., Bonkowsky, J. L., Bernard, G., van Haren, K. & Vanderver, A., Sep 2017, In : Molecular Genetics and Metabolism. 122, 1-2

Research output: Contribution to journalArticleAcademicpeer-review

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome

Schossig, A., Bloch-Zupan, A., Lussi, A., Wolf, N. I., Raskin, S., Cohen, M., Giuliano, F., Jurgens, J., Krabichler, B., Koolen, D. A., de Macena Sobreira, N. L., Maurer, E., Muller-Bolla, M., Penzien, J., Zschocke, J. & Kapferer-Seebacher, I., Jan 2017, In : Journal of Medical Genetics. 54, 1, p. 54-62 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I. & 9 others, Superti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 1 Dec 2017, In : Neurogenetics. 18, 4, p. 185-194 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

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 others, Bernard, 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

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Madeo, M., Stewart, M., Sun, Y., Sahir, N., Wiethoff, S., Chandrasekar, I., Yarrow, A., Rosenfeld, J. A., Yang, Y., Cordeiro, D., McCormick, E. M., Muraresku, C. C., Jepperson, T. N., McBeth, L. J., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M., Azzedine, H., Clark, K., Corrochano, S. & 21 others, Wells, S., Elting, M. W., Weiss, M. M., Burn, S., Myers, A., Landsverk, M., Crotwell, P. L., Waisfisz, Q., Wolf, N. I., Nolan, P. M., Padilla-Lopez, S., Houlden, H., Lifton, R., Mane, S., Singh, B. B., Falk, M. J., Mercimek-Mahmutoglu, S., Bilguvar, K., Salih, M. A., Acevedo-Arozena, A. & Kruer, M. C., 2 Jun 2016, In : American journal of human genetics. 98, 6, p. 1249-1255

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Knierim, E., Hirata, H., Wolf, N. I., Morales-Gonzalez, S., Schottmann, G., Tanaka, Y., Rudnik-Schoeneborn, S., Orgeur, M., Zerres, K., Vogt, S., van Riesen, A., Gill, E., Seifert, F., Zwirner, A., Kirschner, J., Goebel, H. H., Huebner, C., Stricker, S., Meierhofer, D., Stenzel, W. & 1 others, Schuelke, M., 3 Mar 2016, In : American journal of human genetics. 98, 3, p. 473-489

Research output: Contribution to journalArticleAcademicpeer-review

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

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

Mueller, A., Helbig, I., Jansen, C., Bast, T., Guerrini, R., Jaehn, J., Muhle, H., Auvin, S., Korenke, G. C., Philip, S., Keimer, R., Striano, P., Wolf, N. I., Puest, B., Thiels, C., Fogarasi, A., Waltz, S., Kurlemann, G., Kovacevic-Preradovic, T., Ceulemans, B. & 6 others, Schmitt, B., Philippi, H., Tarquinio, D., Buerki, S., von Stuelpnagel, C. & Kluger, G., Jan 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 147-151

Research output: Contribution to journalArticleAcademicpeer-review

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 others, Bloom, 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

4H-Syndrom - eine häufige Ursache für Hypomyelinisering

Rauscher, C., Vervenne van Spandonk, R. M., Boltshauser, E. & Wolf, N. I., 2015, In : Neuropädiatrie in Klinik und Praxis. 14, p. 98-100

Research output: Contribution to journalArticleAcademic

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 others, van 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

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

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, M., Karall, D., Schossig, A., Abdenur, J. E., Al Jasmi, F., Biagosch, C., Distelmaier, F., Freisinger, P., Graham, B. H., Haack, T. B., Hauser, N., Hertecant, J., Ebrahimi-Fakhari, D., Konstantopoulou, V., Leydiker, K., Lourenco, C. M., Scholl-Burgi, S., Wilichowski, E., Wolf, N. I., Wortmann, S. B. & 6 others, Taylor, R. W., Mayr, J. A., Bonnen, P. E., Sperl, W., Prokisch, H. & McFarland, R., 2015, In : Journal of Inherited Metabolic Disease. 38, 5, p. 905-914

Research output: Contribution to journalArticleAcademicpeer-review