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Titel: Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL
Auteur(s): Fock, Johanna, Salomons, Gajja, Bugiani, Marianna, Kevelam, Sietske, Klouwer, Femke, van der Knaap, Marjo
Tijdschrift: Neuropediatrics
Start- en eindpagina: 64 - 67
Publicatiedatum: 30-11-2015
DOI: 10.1055/s-0035-1568987

Titel: DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Auteur(s): Wolf, N. I., Toro, C., Kister, I., Latif, K. A., Leventer, R., Pizzino, A., Simons, C., Abbink, T. E. M., Taft, R. J., van der Knaap, M. S., Vanderver, A.
Tijdschrift: Neurology
Start- en eindpagina: 226 - 230
Publicatiedatum: 19-12-2014
DOI: 10.1212/WNL.0000000000001157

Titel: UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
Auteur(s): Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojcáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E.M., van der Knaap, Marjo S.
Tijdschrift: Neurology
Start- en eindpagina: 1821 - 1828
Publicatiedatum: 20-09-2017
DOI: 10.1212/WNL.0000000000004578

Titel: Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study
Auteur(s): Stellitano, Lesley A, Winstone, Anne Marie, van der Knaap, Marjo S, Verity, Christopher M
Tijdschrift: Developmental Medicine and Child Neurology
Start- en eindpagina: 680 - 689
Publicatiedatum: 11-02-2016
DOI: 10.1111/dmcn.13027

Titel: Stem cell therapy for white matter disorders: don’t forget the microenvironment!
Auteur(s): Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Tijdschrift: Journal of Inherited Metabolic Disease
Start- en eindpagina: 513 - 518
Publicatiedatum: 21-03-2016
DOI: 10.1007/s10545-016-9925-1

Titel: Diffuse hypomyelination is not obligate for POLR3-related disorders
Auteur(s): La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkinay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Tijdschrift: Neurology
Start- en eindpagina: 1622 - 1626
Publicatiedatum: 30-03-2016
DOI: 10.1212/WNL.0000000000002612

Titel: Whole exome sequencing in patients with white matter abnormalities
Auteur(s): Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Kelin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S., Taft, Ryan J.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 1031 - 1037
Publicatiedatum: 09-05-2016
DOI: 10.1002/ana.24650

Titel: Childhood white matter disorders: much more than just diseases of myelin
Auteur(s): Bugiani, Marianna, van der Knaap, Marjo S.
Tijdschrift: Acta Neuropathologica
Start- en eindpagina: 329 - 330
Publicatiedatum: 18-07-2017
DOI: 10.1007/s00401-017-1750-6

Titel: Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms
Auteur(s): van der Knaap, Marjo S., Bugiani, Marianna
Tijdschrift: Acta Neuropathologica
Start- en eindpagina: 351 - 382
Publicatiedatum: 21-06-2017
DOI: 10.1007/s00401-017-1739-1

Titel: TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Auteur(s): Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I, Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S, Liu, Judy, Padiath, Quasar, Vanderver, Adeline
Tijdschrift: Human Molecular Genetics
Start- en eindpagina: 4506 - 4518
Publicatiedatum: 29-08-2017
DOI: 10.1093/hmg/ddx338

Titel: Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment
Auteur(s): Dooves, S., Bugiani, M., Wisse, L. E., Abbink, T. E. M., van der Knaap, M. S., Heine, V. M.
Tijdschrift: Neuropathology and Applied Neurobiology
Start- en eindpagina: 1512 - 1524
Publicatiedatum: 01-08-2017
DOI: 10.1111/nan.12411

Titel: A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination
Auteur(s): Duncan, Ian D., Bugiani, Marianna, Radcliff, Abigail B., Moran, John J., Lopez-Anido, Camila, Duong, Phu, August, Benjamin K., Wolf, Nicole I., van der Knaap, Marjo S., Svaren, John
Tijdschrift: Annals of Neurology
Start- en eindpagina: 690 - 702
Publicatiedatum: 09-05-2017
DOI: 10.1002/ana.24930

Titel: Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy
Auteur(s): Naik, Neeta, Shah, Ami, Wamelink, Mirjam M.C., van der Knaap, Marjo S., Hingwala, Divyata
Tijdschrift: Neurology
Start- en eindpagina: 1195 - 1196
Publicatiedatum: 11-08-2017
DOI: 10.1212/WNL.0000000000004361

Titel: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance
Auteur(s): Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda, Sylke J, van der Knaap, Marjo S, Santen, Gijs W E
Tijdschrift: Brain
Start- en eindpagina: 66 - 67
Publicatiedatum: 06-10-2017
DOI: 10.1093/brain/awx239

Titel: Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings
Auteur(s): Song, Hannah, Haeri, Sina, Vogel, Hannes, van der Knaap, Marjo, Van Haren, Keith
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 867 - 870
Publicatiedatum: 09-06-2017
DOI: 10.1177/0883073817712588

Titel: 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System
Auteur(s): Vrij-van den Bos, Suzanne, Hol, Janna, La Piana, Roberta, Harting, Inga, Vanderver, Adeline, Barkhof, Frederik, Cayami, Ferdy, van Wieringen, Wessel, Pouwels, Petra, van der Knaap, Marjo, Bernard, Geneviève, Wolf, Nicole
Tijdschrift: Neuropediatrics
Start- en eindpagina: 152 - 160
Publicatiedatum: 01-03-2017
DOI: 10.1055/s-0037-1599141

Titel: Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations
Auteur(s): Zeydan, Burcu, Uygunoglu, Ugur, Altintas, Ayse, Saip, Sabahattin, Siva, Aksel, Abbink, Truus E.M. , van der Knaap, Marjo S. , Yalcinkaya, Cengiz
Tijdschrift: European Neurology
Start- en eindpagina: 125 - 127
Publicatiedatum: 01-07-2017
DOI: 10.1159/000478089

Titel: Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Auteur(s): Bugiani, Marianna, Kevelam, Sietske H., Bakels, Hannah S., Waisfisz, Quinten, Ceuterick-de Groote, Chantal, Niessen, Hans W.M., Abbink, Truus E.M., Lesnik Oberstein, Saskia A.M.J., van der Knaap, Marjo S.
Tijdschrift: Neurology
Start- en eindpagina: 1777 - 1786
Publicatiedatum: 24-09-2016
DOI: 10.1212/WNL.0000000000003251

Titel: LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
Auteur(s): Dallabona, Cristina, Abbink, Truus E. M., Carrozzo, Rosalba, Torraco, Alessandra, Legati, Andrea, van Berkel, Carola G. M., Niceta, Marcello, Langella, Tiziana, Verrigni, Daniela, Rizza, Teresa, Diodato, Daria, Piemonte, Fiorella, Lamantea, Eleonora, Fang, Mingyan, Zhang, Jianguo, Martinelli, Diego, Bevivino, Elsa, Dionisi-Vici, Carlo, Vanderver, Adeline, Philip, Sunny G., Kurian, Manju A., Verma, Ishwar C., Bijarnia-Mahay, Sunita, Jacinto, Sandra, Furtado, Fatima, Accorsi, Patrizia, Ardissone, Anna, Moroni, Isabella, Ferrero, Ileana, Tartaglia, Marco, Goffrini, Paola, Ghezzi, Daniele, van der Knaap, Marjo S., Bertini, Enrico
Tijdschrift: Brain
Start- en eindpagina: 782 - 794
Publicatiedatum: 29-01-2016
DOI: 10.1093/brain/awv392

Titel: Astrocytes are central in the pathomechanisms of vanishing white matter
Auteur(s): Dooves, Stephanie, Bugiani, Marianna, Postma, Nienke L., Polder, Emiel, Land, Niels, Horan, Stephen T., van Deijk, Anne-Lieke F., van de Kreeke, Aleid, Jacobs, Gerbren, Vuong, Caroline, Klooster, Jan, Kamermans, Maarten, Wortel, Joke, Loos, Maarten, Wisse, Lisanne E., Scheper, Gert C., Abbink, Truus E.M., Heine, Vivi M., van der Knaap, Marjo S.
Tijdschrift: Journal of Clinical Investigation
Start- en eindpagina: 1512 - 1524
Publicatiedatum: 14-03-2016
DOI: 10.1172/JCI83908

Titel: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Auteur(s): Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Tijdschrift: Nature Genetics
Start- en eindpagina: 1185 - 1192
Publicatiedatum: 29-08-2016
DOI: 10.1038/ng.3661

Titel: Acute intermittent porphyria-related leukoencephalopathy
Auteur(s): Kevelam, Sietske H., Neeleman, Rochus A., Waisfisz, Quinten, Friesema, Edith C.H., Langendonk, Janneke G., van der Knaap, Marjo S.
Tijdschrift: Neurology
Start- en eindpagina: 1258 - 1265
Publicatiedatum: 24-08-2016
DOI: 10.1212/WNL.0000000000003129

Titel: Update on Leukodystrophies: A Historical Perspective and Adapted Definition
Auteur(s): Kevelam, Sietske, Steenweg, Marjan, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole, van der Knaap, Marjo
Tijdschrift: Neuropediatrics
Start- en eindpagina: 349 - 354
Publicatiedatum: 26-08-2016
DOI: 10.1055/s-0036-1588020

Titel: Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Auteur(s): Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Tijdschrift: Frontiers in neurology
Start- en eindpagina: 203 - 203
Publicatiedatum: 16-11-2016
DOI: 10.3389/fneur.2016.00203

Titel: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Auteur(s): Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G.
Tijdschrift: Nature Communications
Start- en eindpagina: 7623 - 0

Titel: Recessive ITPA mutations cause an early infantile encephalopathy.
Auteur(s): Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 649 - 658

Titel: Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle.
Auteur(s): Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 114 - 131

Titel: Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Auteur(s): 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.
Tijdschrift: Annals of Clinical and Translational Neurology
Start- en eindpagina: 648 - 661

Titel: Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease.
Auteur(s): Bugiani M, Postma N, Polder E, Dieleman N, Scheffer PG, Sim FJ, van der Knaap MS, Boor I.
Tijdschrift: Brain
Start- en eindpagina: 209 - 222

Titel: Novel (ovario) leukodystrophy related to AARS2 mutations.
Auteur(s): 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.
Tijdschrift: Neurology
Start- en eindpagina: 2063 - 2071

Titel: LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy.
Auteur(s): Kevelam SH, van Engelen BG, van Berkel CG, Küsters B, van der Knaap MS.
Tijdschrift: Muscle and Nerve
Start- en eindpagina: 616 - 617

Titel: Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency.
Auteur(s): Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 315 - 325

Titel: Mutations in RARS cause hypomyelination.
Auteur(s): Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 134 - 139

Titel: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Auteur(s): Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS.
Tijdschrift: Lancet Neurology
Start- en eindpagina: 659 - 668

Titel: Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Auteur(s): 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.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 774 - 780

Titel: A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Auteur(s): Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. 2013; 2;92: 767-773
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 767 - 773

Titel: Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Auteur(s): Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 627 - 632

Titel: NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Auteur(s): 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.
Tijdschrift: Neurology
Start- en eindpagina: 1577 - 1583

Titel: Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Auteur(s): Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS.
Tijdschrift: Brain
Start- en eindpagina: 1534 - 1543

Titel: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Auteur(s): Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M.
Tijdschrift: Brain
Start- en eindpagina: 1387 - 1394

Titel: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Auteur(s): Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ.
Tijdschrift: Nature Genetics
Start- en eindpagina: 338 - 342

Proefschrift
Dit item is dichtgeklapt
Dit item is opengeklapt

Titel: Novel brain white matter disorders and their genetic causes
Auteur(s): S.H.G. Kevelam
Publicatiedatum: 14-10-2016
URL:http://www.publicatie-online.nl/publicaties/s-kevelam

Titel: Comparing and contrasting white matter disorders
Auteur(s): M. Bugiani
Publicatiedatum: 30-06-2015

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