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Titel: Quantitative MRI in hypomyelinating disorders
Auteur(s): Steenweg, Marjan E., Wolf, Nicole I., van Wieringen, Wessel N., Barkhof, Frederik, van der Knaap, Marjo S., Pouwels, Petra J.W.
Tijdschrift: Neurology
Start- en eindpagina: 752 - 758
Publicatiedatum: 20-07-2016
DOI: 10.1212/WNL.0000000000003000

Titel: Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
Auteur(s): Helman, Guy, Caldovic, Ljubica, Whitehead, Matthew T., Simons, Cas, Brockmann, Knut, Edvardson, Simon, Bai, Renkui, Moroni, Isabella, Taylor, J. Michael, Van Haren, Keith, Taft, Ryan J., Vanderver, Adeline, van der Knaap, Marjo S.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 379 - 386
Publicatiedatum: 12-02-2016
DOI: 10.1002/ana.24572

Titel: Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis
Auteur(s): Stelten, Bianca M.L., van der Knaap, Marjo S., Wevers, Ron A., Verrips, Aad
Tijdschrift: Pediatric Neurology
Start- en eindpagina: 98 - 100
Publicatiedatum: 01-08-2017
DOI: 10.1016/j.pediatrneurol.2017.04.007

Titel: Alexander Disease
Auteur(s): Tavasoli, Ali, Armangue, Thais, Ho, Cheng-Ying, Whitehead, Matthew, Bornhorst, Miriam, Rhee, Jullie, Hwang, Eugene I., Wells, Elizabeth M., Packer, Roger, van der Knaap, Marjo S., Bugiani, Marianna, Vanderver, Adeline
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 184 - 187
Publicatiedatum: 10-10-2016
DOI: 10.1177/0883073816673263

Titel: Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL).
Auteur(s): Schicks J, Schöls L, van der Knaap MS, Synofzik M.
Tijdschrift: Neurology
Start- en eindpagina: 176 - 177

Titel: Mystery case: Baló concentric sclerosis.
Auteur(s): Grooters GS, Visser LH, Barkhof F, van der Knaap MS, van Asseldonk JT, Nita DA.
Tijdschrift: Neurology
Start- en eindpagina: 71 - 72

Titel: Early-onset LBSL: How Severe Does It Get?
Auteur(s): Steenweg ME, van Berge L, van Berkel CG, de Coo IF, Temple IK, Brockmann K, Mendonça CI, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper GC, van der Knaap MS.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 332 - 338

Titel: Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Auteur(s): Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA.
Tijdschrift: Human Mutation
Start- en eindpagina: 562 - 571

Titel: Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
Auteur(s): van de Kamp JM, Pouwels PJ, Aarsen FK, Ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM.
Tijdschrift: Journal of Inherited Metabolic Diseases
Start- en eindpagina: 141 - 149

Titel: Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
Auteur(s): Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS.
Tijdschrift: Journal of Medical Genetics
Start- en eindpagina: 754 - 759

Titel: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
Auteur(s): van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.
Tijdschrift: Journal of Medical Genetics
Start- en eindpagina: 463 - 472

Titel: Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy.
Auteur(s): van Egmond ME, Pouwels PJ, Boelens JJ, Lindemans CA, Barkhof F, Steenwijk MD, van Hasselt PM, van der Knaap MS, Wolf NI.
Tijdschrift: JAMA Neurology
Start- en eindpagina: 779 - 782

Titel: Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy.
Auteur(s): Ramesh K, Sharma S, Kumar A, Salomons GS, van der Knaap MS, Gulati S.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 396 - 398

Titel: Recognizable phenotypes associated with intracranial calcification.
Auteur(s): Livingston JH, Stivaros S, van der Knaap MS, Crow YJ.
Tijdschrift: Developmental Medicine and Child Neurology
Start- en eindpagina: 46 - 57

Titel: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.
Auteur(s): Tonduti D, Pichiecchio A, Wolf NI, Ariaudo G, van der Knaap MS, Bastianello S, Balottin U, Orcesi S.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 213 - 217

Titel: Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
Auteur(s): de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP.
Tijdschrift: European Journal of Human Genetics
Start- en eindpagina: 1312 - 1315

Titel: A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Auteur(s): Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P.
Tijdschrift: Mitochondrion
Start- en eindpagina: 749 - 754

Titel: Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
Auteur(s): Lemmens R, Maugeri A, Niessen HW, Goris A, Tousseyn T, Demaerel P, Corveleyn A, Robberecht W, van der Knaap MS, Thijs VN, Zwijnenburg PJ.
Tijdschrift: Human Molecular Genetics
Start- en eindpagina: 391 - 397

Titel: Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
Auteur(s): van Berge L, Kevenaar J, Polder E, Gaudry A, Florentz C, Sissler M, van der Knaap MS, Scheper GC.
Tijdschrift: Biochemical Journal
Start- en eindpagina: 345 - 350

Titel: Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.
Auteur(s): van Egmond ME, Vermeulen RJ, Peeters-Scholte CM, Augoustides-Savvopoulou P, Abbink F, Boelens JJ, van der Knaap MS.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 191 - 193

Titel: Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.
Auteur(s): Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N, Fukushima Y.
Tijdschrift: Clinical Dysmorphology
Start- en eindpagina: 166 - 167

Titel: Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Auteur(s): Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT. Collaborators (62) Van der Aa N, Arts WF, Ades LC, Bahi-Buisson N, Battini R, Bodamer O, Boltshauser E, Boycott K, Brueton L, Brussel W, Chandler KE, Cowan FM, Crow Y, Debus O, Demir E, Hastanesi G, Eason J, Ferrie CD, Fisher RB, Foulds N, Freeman JL, Gooskens R, Haeussler M, Hageman G, Hammersen G, Horn D, Isidor B, van der Knaap MS, Kress W, Kroisel PM, Kyllerman M, Lachmeijer AM, Lunsing RJ, McGillivray G, Möllmann S, Muntoni F, Nemeth AH, Neufeld-Kaiser W, van Nieuwenhuizen O, Ouvrier R, Pálmafy B, Peeters EA, Phillips JJ, Price S, Rankin J, Régal L, de Rijk-van Andel JF, Roelens F, Rutledge JC, Ryan MM,
Tijdschrift: Brain
Start- en eindpagina: 143 - 156

Titel: A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?
Auteur(s): Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 159 - 161

Titel: Progress in understanding 2-hydroxyglutaric acidurias.
Auteur(s): Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C.
Tijdschrift: Journal of Inherited Metabolic Disease
Start- en eindpagina: 571 - 587

Titel: Natural disease course and genotype-phenotype correlations in complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Auteur(s): Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, Smeitink JA.
Tijdschrift: Journal of Inherited Metabolic Disease
Start- en eindpagina: 737 - 747

Titel: Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.
Auteur(s): Dos Santos MM, Grond-Ginsbach C, Aksay SS, Chen B, Tchatchou S, Wolf NI, van der Knaap MS, Grau AJ.
Tijdschrift: Journal of Neurology
Start- en eindpagina: 579 - 581

Titel: Childhood presentation of COL4A1 mutations.
Auteur(s): Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.
Tijdschrift: Developmental Medicine and Child Neurology
Start- en eindpagina: 569 - 574

Titel: COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
Auteur(s): Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 227 - 233

Titel: A 2-month-old infant with vomiting, seizures, and progressive apathy.
Auteur(s): Larsen A, Martin C, Meyer S, Rohrer T, Papanagiotou P, van der Knaap M, Gortner L.
Tijdschrift: European Journal of Pediatrics
Start- en eindpagina: 993 - 995

Titel: Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Auteur(s): Flint D, Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M.
Tijdschrift: Human Mutation
Start- en eindpagina: 1141 - 1148

Titel: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell type-dependent splicing of mtAspRS mRNA.
Auteur(s): van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC.
Tijdschrift: Biochemical Journal
Start- en eindpagina: 955 - 962

Titel: Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.
Auteur(s): 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; 72: 433-441
Tijdschrift: Annals of Neurology
Start- en eindpagina: 433 - 441

Titel: MRI as diagnostic tool in early-onset peroxisomal disorders.
Auteur(s): van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ, Waterham HR, Ferdinandusse S.
Tijdschrift: Neurology
Start- en eindpagina: 1304 - 1308

Titel: Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.
Auteur(s): Steenweg ME, Wolf NI, Schieving JH, Fawzi Elsaid M, Friederich RL, Ostergaard JR, Barkhof F, Pouwels PJ, van der Knaap MS.
Tijdschrift: Archives of Neurology
Start- en eindpagina: 125 - 128

Titel: Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.
Auteur(s): 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.
Tijdschrift: Archives of Neurology
Start- en eindpagina: 718 - 722

Titel: Patient with unilateral white matter involvement does not have Krabbe disease.
Auteur(s): Van der Knaap MS, Wenger DA.
Tijdschrift: Archives of Neurology
Start- en eindpagina: 1345 - 1345

Titel: Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.
Auteur(s): Jefferson RJ, Absoud M, Jain R, Livingston JH, van der Knaap MS, Jayawant S.
Tijdschrift: Developmental Medicine and Child Neurology
Start- en eindpagina: 1160 - 1163

Titel: Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.
Auteur(s): Schmidt S, Wattjes MP, Gerding WM, van der Knaap M.
Tijdschrift: Journal of Neurology
Start- en eindpagina: 938 - 940

Titel: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP.
Auteur(s): Messing A, Li R, Naidu S, Taylor JP, Silverman L, Flint D, van der Knaap MS, Brenner M.
Tijdschrift: Archives of Neurology
Start- en eindpagina: 0 - 0

Titel: Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.
Auteur(s): Dos Santos MM, Grond-Ginsbach C, Aksay SS, Chen B, Tchatchou S, Wolf NI, van der Knaap MS, Grau AJ.
Tijdschrift: Journal of Neurology
Start- en eindpagina: 0 - 0

Titel: Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.
Auteur(s): Vermeulen RJ, Peeters-Scholte C, Van Vught JJ, Barkhof F, Rizzu P, van der Schoor SR, van der Knaap MS.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 1 - 3

Titel: COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification.
Auteur(s): Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 0 - 0

Titel: Hypomyelination and congenital cataract: broadening the clinical phenotype.
Auteur(s): Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI.
Tijdschrift: Archives of Neurology
Start- en eindpagina: 1191 - 1194

Titel: N-acetylaspartylglutamate in CNS hypomyelination.
Auteur(s): Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 74 - 77

Titel: Correspondence on "spinal cord calcification in an early-onset progressive leukoencephalopathy".
Auteur(s): van Berge L, van Berkel CG, Scheper GC, van der Knaap MS.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 1057 - 1057

Titel: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell type-dependent splicing of mtAspRS mRNA.
Auteur(s): van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC.
Tijdschrift: Biochemical Journal
Start- en eindpagina: 0 - 0

Titel: Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.
Auteur(s): Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, Pereira Vilanova LC, Scheper GC, Van der Knaap MS.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 1425 - 1428

Titel: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
Auteur(s): Mierzewska H, van der Knaap MS, Scheper GC, Bekiesinska-Figatowska M, Szczepanik E, Jurkiewicz E.
Tijdschrift: Brain & Development
Start- en eindpagina: 713 - 717

Titel: Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.
Auteur(s): Steenweg ME, Pouwels PJ, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS.
Tijdschrift: Brain
Start- en eindpagina: 3333 - 3341

Titel: Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate.
Auteur(s): Sharma S, Sankhyan N, Kumar A, Scheper GC, van der Knaap MS, Gulati S.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 773 - 776

Titel: A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
Auteur(s): Messmer M, Florentz C, Schwenzer H, Scheper GC, van der Knaap MS, Marechal-Drouard L, Sissler M.
Tijdschrift: Biochemical Journal
Start- en eindpagina: 441 - 446

Titel: An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Auteur(s): Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS.
Tijdschrift: Human Mutation
Start- en eindpagina: 380 - 390

Titel: Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.
Auteur(s): Scheper GC, van Berkel CG, Leisle L, de Groot KE, Errami A, Jentsch TJ, Van der Knaap MS.
Tijdschrift: Genetic Testing and Molecular Biomarkers
Start- en eindpagina: 255 - 257

Titel: Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Auteur(s): Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS.
Tijdschrift: Brain
Start- en eindpagina: 3342 - 3354

Titel: Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Auteur(s): Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, Estévez R.
Tijdschrift: Neurobiology of Disease
Start- en eindpagina: 228 - 238

Titel: Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Auteur(s): López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R.
Tijdschrift: Human Molecular Genetics
Start- en eindpagina: 3266 - 3277

Titel: Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
Auteur(s): van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 834 - 837

Titel: Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Auteur(s): López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 422 - 432

Titel: Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Auteur(s): Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.
Tijdschrift: Molecular Genetics and Metabolism
Start- en eindpagina: 637 - 643

Titel: A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
Auteur(s): Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P.
Tijdschrift: European Journal of Pediatric Neurology
Start- en eindpagina: 182 - 187

Titel: Quantitative MR imaging and spectroscopy in congenital cytomegalovirus infection and periventricular leukomalacia suggests a comparable neuropathological substrate of the cerebral white matter lesions.
Auteur(s): Van der Voorn JP, Pouwels PJ, Vermeulen RJ, Barkhof F, van der Knaap MS.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 168 - 173

Titel: Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Auteur(s): Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA.
Tijdschrift: Journal of Inherited Metabolic Diseases
Start- en eindpagina: 713 - 719

Titel: Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
Auteur(s): Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS.
Tijdschrift: Brain
Start- en eindpagina: 2971 - 2982

Titel: Hypomyelination versus delayed myelination.
Auteur(s): van der Knaap MS, Wolf NI.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 115 - 0

Titel: IDH2 Mutations in patients with D-2-hydroxyglutaric aciduria.
Auteur(s): Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS.
Tijdschrift: Science
Start- en eindpagina: 336 - 0

Titel: Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Auteur(s): Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 115 - 122

Titel: An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Auteur(s): Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS.
Tijdschrift: Human Mutation
Start- en eindpagina: 380 - 390

Titel: Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene.
Auteur(s): Lin J, Faria EC, Da Rocha AJ, Masruha MR, Vilanova LC, Scheper GC, Van der Knaap MS.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 1425 - 1428

Titel: X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.
Auteur(s): Anand G, Maheshwari N, Roberts D, Padeniya A, Hamilton-Ayers M, van der Knaap M, Fratter C, Jayawant S.
Tijdschrift: Developmental Medicine and Child Neurology
Start- en eindpagina: 677 - 679

Titel: A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
Auteur(s): Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P.
Tijdschrift: European Journal of Pediatric Neurology
Start- en eindpagina: 182 - 187

Titel: Vanishing white matter disease.
Auteur(s): van der Knaap MS, Pronk JC, Scheper GC.
Tijdschrift: Lancet Neurology
Start- en eindpagina: 413 - 423

Titel: An MRI-based approach to the diagnosis of white matter disorders.
Auteur(s): Schiffmann R, van der Knaap MS.
Tijdschrift: Neurology
Start- en eindpagina: 750 - 759

Titel: L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Auteur(s): Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS.
Tijdschrift: Radiology
Start- en eindpagina: 856 - 865

Titel: Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Auteur(s): Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 44 - 51

Titel: Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Auteur(s): Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.
Tijdschrift: Nature Genetics
Start- en eindpagina: 829 - 832

Titel: Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.
Auteur(s): Van der Voorn JP, Pouwels PJ, Salomons GS, Barkhof F, van der Knaap MS.
Tijdschrift: Neuroradiology
Start- en eindpagina: 669 - 675

Titel: AGC1 deficiency and cerebral hypomyelination.
Auteur(s): Wolf NI, van der Knaap MS.
Tijdschrift: New England Journal of Medicine
Start- en eindpagina: 1997 - 1998

Titel: Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC): a third confirmed case with literature review.
Auteur(s): Miles L, Degrauw TJ, Dinopoulos A, Cecil KM, van der Knaap MS, Bove KE.
Tijdschrift: Pediatric and developmental pathology
Start- en eindpagina: 180 - 186

Titel: Walking and periventricular leukomalacia: Locomotor characteristics and brain imaging (MRI).
Auteur(s): Ledebt A, Savelsbergh GJ, Sie LT, van der Knaap MS. Infant Behav Dev 2008; 31: 655-664
Tijdschrift: Infant behavior and development
Start- en eindpagina: 655 - 664

Titel: Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy.
Auteur(s): Mascalchi M, de Grandis D, Ginestroni A, Pratesi A, Della Nave R, Scheper GC, van der Knaap MS.
Tijdschrift: Neurology
Start- en eindpagina: 537 - 538

Titel: Non-eIF2B-related cystic leukoencephalopathy of unknown origin.
Auteur(s): Van der Knaap MS, Scheper GC.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 724 - 0

Titel: Positive genetic analysis provides the ultimate diagnostic confirmation.
Auteur(s): Van der Knaap MS, Scheper GC.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 485 - 486

Titel: Regulation of protein synthesis in lymphoblasts from vanishing white matter patients.
Auteur(s): Van Kollenburg B, Thomas AAM, Vermeulen G, Bertrand GAM, van Berkel CGM, Pronk JC, Proud CG, van der Knaap MS, Scheper GC.
Tijdschrift: Neurobiology of Disease
Start- en eindpagina: 496 - 504

Titel: Glia-Specific Activation of All Pathways of the Unfolded Protein Response in Vanishing White Matter Disease.
Auteur(s): Van Kollenbrug B, van Dijk J, Garbern, Thomas AAM, Scheper GC, Powers JM, van der Knaap MS.
Tijdschrift: Journal of Neuropathology and Experimental Neurology
Start- en eindpagina: 707 - 715

Titel: Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
Auteur(s): Timmons M, Tsokos M, Abu Asab M, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K.
Tijdschrift: Neurology
Start- en eindpagina: 2066 - 2069

Titel: Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
Auteur(s): Van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJM, Jakobs C, Barkhof F, Salomons GS.
Tijdschrift: Neurology
Start- en eindpagina: 494 - 498

Titel: Propensity for paternal inheritance of de novo mutations in Alexander disease.
Auteur(s): Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M.
Tijdschrift: Human Genetics
Start- en eindpagina: 137 - 144

Titel: Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate.
Auteur(s): Petzold GC, Bohner G, Klingebiel R, Amberger N, van der Knaap MS, Zschenderlein R.
Tijdschrift: Journal of Neurology, Neurosurgery and Psychiatry
Start- en eindpagina: 889 - 891

Titel: Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.
Auteur(s): Van der Knaap MS, Smit LME, Barkhof F, Pijnenburg YAL, Zweegman S, Niessen HWM, Imhof S, Heutink P.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 504 - 511

Titel: Microphthalmia and brain atrophy: a novel neurodegenerative disease.
Auteur(s): Kanavin OJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap, MS, Strømme P.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 719 - 723

Titel: Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8.
Auteur(s): Feenstra I, van Ravenswaaij CMA, van der Knaap MS, Willemsen MAAP'.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 83 - 87

Titel: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Auteur(s): Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C.
Tijdschrift: Nature Genetics
Start- en eindpagina: 1111 - 1113

Titel: Phenotypic characterization of Hypomyelination and Congenital Cataract (HCC).
Auteur(s): Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, UzielG, Bugiani M, Lamba LD, Costa V, SchenoneA, Rozemuller AJM, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 121 - 127

Titel: Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.
Auteur(s): Van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S.
Tijdschrift: Neurology
Start- en eindpagina: 166 - 171

Titel: Clinical and molecular phenotype of Aicardi-Goutières syndrome.
Auteur(s): Rice G, ...., van der Knaap MS, ...., Crow YJ.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 713 - 725

Titel: GLUT1 deficiency with delayed myelination responding to ketogenic diet.
Auteur(s): Klepper J, Engelbrecht V, Scheffer H, van der Knaap MS, Fiedler A.
Tijdschrift: Pediatric Neurology
Start- en eindpagina: 130 - 133

Titel: Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome.
Auteur(s): van Heteren JT, van der Knaap MS, Poll The BW, Kuijpers TW.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 269 - 275

Titel: Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.
Auteur(s): Franzoni E, van der Knaap MS, Errani A, Chiara Colonnelli M, Bracceschi R, Malaspina E, Caterina Moscano F, Garone C, Sarajlija J, Zimmerman RA, Salomons GS, Bernardi B.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 1075 - 1080

Titel: A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
Auteur(s): Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, von Bokhoven H, van Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ.
Tijdschrift: Journal of Medical Genetics
Start- en eindpagina: 444 - 450

Titel: Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel.
Auteur(s): Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS.
Tijdschrift: European Journal of Pediatric Neurology
Start- en eindpagina: 81 - 89

Titel: Cerebellar leukoencephalopathy: most likely histiocytosis-related.
Auteur(s): van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjørnstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P.
Tijdschrift: Neurology
Start- en eindpagina: 1361 - 1367

Titel: Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Auteur(s): Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R.
Tijdschrift: Human Molecular Genetics
Start- en eindpagina: 3728 - 3739

Titel: Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Auteur(s): Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP.
Tijdschrift: Annals of Neurology
Start- en eindpagina: 473 - 481

Titel: Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings.
Auteur(s): Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, van der Knaap MS.
Tijdschrift: Journal of The Neurological Sciences
Start- en eindpagina: 118 - 122

Titel: Effectiveness of selective dorsal rhizotomy in 2 patients with progressive spasticity due to neurodegenerative disease.
Auteur(s): Grunt S, van der Knaap MS, van Ouwerkerk WJ, Strijers RL, Becher JG, Vermeulen RJ.
Tijdschrift: Journal of Child Neurology
Start- en eindpagina: 818 - 822

Titel: MR spectroscopy and serial magnsitic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
Auteur(s): Zafeiriou DI, Rodenburg RJT, Scheffer H, van den Heuvel LP, Pouwels PJW, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS.
Tijdschrift: Neuropediatrics
Start- en eindpagina: 172 - 175

Titel: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
Auteur(s): Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ.
Tijdschrift: American Journal of Medical Genetics A
Start- en eindpagina: 182 - 190

Titel: Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Auteur(s): Scheper GC, van der KT, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I, Smeitink JA, Florentz C, Van CR, Pronk JC, van der Knaap MS
Tijdschrift: Nature Genetics
Start- en eindpagina: 534 - 539

Titel: Translation matters: protein synthesis defects in inherited disease.
Auteur(s): Scheper GC, van der Knaap MS, Proud CG.
Tijdschrift: Nature Reviews Genetics
Start- en eindpagina: 711 - 723

Titel: MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Auteur(s): Boor I, Nagtegaal M, Kamphorst W, van d, V, Pronk JC, van HJ, Dinopoulos A, Bove KE, Pascual-Castroviejo I, Muntoni F, Estevez R, Scheper GC, van der Knaap MS.
Tijdschrift: Acta Neuropathologica
Start- en eindpagina: 403 - 410

Titel: Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Auteur(s): Boor PKI, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC.
Tijdschrift: Human Mutation
Start- en eindpagina: 505 - 512

Titel: Vanishing white matter disease: a review with focus on its genetics.
Auteur(s): Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS.
Tijdschrift: Mental Retardation and Developmental Disabilities Research Reviews
Start- en eindpagina: 123 - 128

Titel: Childhood white matter disorders: quantitative MR imaging and spectroscopy.
Auteur(s): van der Voorn JP, Pouwels PJ, Hart AA, Serrarens J, Willemsen MA, Kremer HP, Barkhof F, van der Knaap MS.
Tijdschrift: Radiology
Start- en eindpagina: 510 - 517

Titel: Defective translation initiation causes vanishing of cerebral white matter.
Auteur(s): Scheper GC, Proud CG, van der Knaap MS.
Tijdschrift: Trends in Molecular Medicine
Start- en eindpagina: 159 - 166

Titel: Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy.
Auteur(s): van der Voorn JP, Pouwels PJ, Powers JM, Kamphorst W, Martin JJ, Troost D, Spreeuwenberg MD, Barkhof F, van der Knaap MS.
Tijdschrift: American Journal of Neuroradiology
Start- en eindpagina: 481 - 498

Titel: Cerebral white matter abnormalities in 6p25 deletion syndrome.
Auteur(s): Van der Knaap MS, Kriek M, Overweg-Plandsoen WCG, Hansson KB, Madan K, Starreveld JS, Schotman-Schram P, Barkhof F, Lesnik Oberstein SAMJ.
Tijdschrift: American Journal of Neuroradiology
Start- en eindpagina: 586 - 588

Titel: Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.
Auteur(s): Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P.
Tijdschrift: American Journal of Neuroradiology
Start- en eindpagina: 301 - 305

Proefschrift
Dit item is dichtgeklapt
Dit item is opengeklapt

Titel: The principal mechanism underlying megalencephalic leukoencephalopathy with subcortical cysts
Auteur(s): M.C. Ridder
Publicatiedatum: 08-03-2013

Titel: Childhood white matter disorders
Auteur(s): M.E. Steenweg
Publicatiedatum: 14-04-2015

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