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1

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy

Kevelam, Sietske H., van Engelen, Baziel G.M., van Berkel, Carola G.M., Küsters, Benno, van der Knaap, Marjo S.

Journal:

Year:

2014

Language:

english

File:

PDF, 151 KB

english, 2014

2

Detecting Hydrogen Bonding by NMR Relaxation of the Acceptor Nuclei

Alessandro Bagno, Sébastien Gerard, Jan Kevelam, Enzo Menna, Gianfranco Scorrano

Journal:

Chemistry - A European Journal

Year:

2000

Language:

english

File:

PDF, 173 KB

english, 2000

3

Model for the interparticle surface separation in concentrated mono- and polydisperse suspensions

A. C. Hoffmann, J. Kevelam

Journal:

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999

4

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

Sietske H.G. Kevelam, Jeske J.T. van Harssel, Bert van der Zwaag, Hubertus J.M. Smeets, Aimee D.C. Paulussen, Klaske D. Lichtenbelt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

5

Kinetics of oxidative polymerization of 1,8-nonadiyne

Hendrik J. Kevelam, Klaas P. de Jong, Herman C. Meinders, Gerrit Challa

Journal:

Macromolecular Chemistry and Physics

Year:

1975

Language:

english

File:

PDF, 526 KB

english, 1975

6

Aggregation Numbers of Hydrophobic Microdomains Formed from Poly(dimethyldiallylammonium-co-methyl-n-dodecyldiallylammonium) Salts in Aqueous Solutions

Jan Kevelam, Jan B.F.N. Engberts

Journal:

Journal of Colloid and Interface Science

Year:

1996

Language:

english

File:

PDF, 115 KB

english, 1996

7

Aggregation Behavior of Mono-endcapped Hydrophobically Modified Poly(sodium acrylate)s in Aqueous Solution

Jaap E. Klijn, Jan Kevelam, Jan B.F.N. Engberts

Journal:

Journal of Colloid and Interface Science

Year:

2000

Language:

english

File:

PDF, 162 KB

english, 2000

8

A novel polycyclic triamine derivative of tridehydro[12]annulene and its nitroxides

J.H. van Roosmalen, E. Jones, H.J. Kevelam

Journal:

Tetrahedron Letters

Year:

1972

Language:

english

File:

PDF, 179 KB

english, 1972

9

Kinetik der oxidativen Polymerisation von 1,8-Nonadiin

H. J. Kevelam, K. P. de Jong, H. C. Meinders, G. Challa

Journal:

Colloid & Polymer Science

Year:

1977

Language:

german

File:

PDF, 133 KB

german, 1977

10

Formation and stability of micelles and vesicles

Jan BFN Engberts, Jan Kevelam

Journal:

Current Opinion in Colloid & Interface Science

Year:

1996

Language:

english

File:

PDF, 1.04 MB

english, 1996

11

Anchoring of hydrophobically modified poly(sodium acrylate)s into DDP vesicle bilayers: hydrophobic match and mismatch

Kevelam, J., Engberts, J. B. F. N., Blandamer, M. J., Briggs, B., Cullis, P. M.

Journal:

Colloid & Polymer Science

Year:

1998

Language:

english

File:

PDF, 145 KB

english, 1998

12

1FC3.5 Copy number variations in patients with electrical status epilepticus in sleep

S. Kevelam, F. Jansen, E. van Binsbergen, K.P.J. Braun, N. Verbeek, D. Lindhout, M. Poot, E. Brilstra

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

13

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

Sietske H. G. Kevelam, Marianna Bugiani…

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2013

Language:

english

File:

PDF, 57 KB

english, 2013

14

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L.-J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A.,

Journal:

Year:

2014

Language:

english

File:

PDF, 1.02 MB

english, 2014

15

Evidence for the “Cold Fusion” of Bilayer Membranes

Ravoo, Bart Jan, Kevelam, Jan, Weringa, Wilke D., Engberts, Jan B. F. N.

Journal:

Journal of Physical Chemistry B

Year:

1998

Language:

english

File:

PDF, 115 KB

english, 1998

16

Polymer−Surfactant Interactions Studied by Titration Microcalorimetry: Influence of Polymer Hydrophobicity, Electrostatic Forces, and Surfactant Aggregational State

Kevelam, Jan, van Breemen, Jan F. L., Blokzijl, Wilfried, Engberts, Jan B. F. N.

Journal:

Year:

1996

Language:

english

File:

PDF, 268 KB

english, 1996

17

Surface Potentials of Hydrophobic Microdomains in Aqueous Solutions of Poly(dimethyldiallylammonium- co-methyl-n-dodecyldiallylammonium salts) with Different Counterions. Evidence for the Existence of a Critical Aggregation Concentration

Kevelam, Jan, Engberts, Jan B. F. N.

Journal:

Year:

1995

Language:

english

File:

PDF, 641 KB

english, 1995

18

Rheology of Concentrated Dispersions of Sterically Stabilized Polydisperse Lamellar Droplets

Kevelam, Jan, Hoffmann, Alex C., Engberts, Jan B. F. N., Blokzijl, Wilfried, van de Pas, John, Versluis, Peter

Journal:

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

19

Microstructure of Dispersions of Lamellar Droplets Carrying Anchoring Hydrophobically Endcapped Poly(sodium acrylate)s as Novel Steric Stabilizers

Kevelam, Jan, Martinucci, Silvia, Engberts, Jan B. F. N., Blokzijl, Wilfried, van de Pas, John, Blonk, Han, Versluis, Peter, Visser, Antonie J. W. G.

Journal:

Year:

1999

Language:

english

File:

PDF, 343 KB

english, 1999

20

Thermodynamics of Micellization of Nonionic Saccharide-Based N -Acyl- N -alkylaldosylamine and N -Acyl- N -alkylamino-1-deoxyalditol Surfactants

Pestman, Jolanda M., Kevelam, Jan, Blandamer, Michael J., van Doren, Henk A., Kellogg, Richard M., Engberts, Jan B. F. N.

Journal:

Year:

1999

Language:

english

File:

PDF, 75 KB

english, 1999

21

Study of Self-Associating Amphiphilic Copolymers and Their Interaction with Surfactants

Faes, Herman, De Schryver, F. C., Sein, Arjen, Bijma, Koos, Kevelam, Jan, Engberts, J. B. F. N.

Journal:

Year:

1996

Language:

english

File:

PDF, 125 KB

english, 1996

22

Titration microcalorimetry of adsorption processes in aqueous systems Interaction of sodium dodecylsulfate and sodium decylsulfate with poly(N-vinylpyrrolidone)

Blandamer, Michael J., Briggs, Barbara, Cullis, Paul M., Irlam, Keith D., Engberts, Jan B. F. N., Kevelam, Jan

Journal:

Journal of the Chemical Society Faraday Transactions

Year:

1998

Language:

english

File:

PDF, 324 KB

english, 1998

23

Titration microcalorimetry of micelle formation in aqueous solutions containing alkylpolyoxyethylene glycol ethers, C12H25(OCH2CH2)mOH where m = 3, 4 and 5, and octadecyltrimethylammonium bromide

Blandamer, Michael J., Briggs, Barbara, Cullis, Paul M., N. Engberts, Jan B. F., Kevelam, Jan

Journal:

Physical Chemistry Chemical Physics

Year:

2000

Language:

english

File:

PDF, 109 KB

english, 2000

24

Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep

Kevelam, S. H. G., Jansen, F. E., Binsbergen, E. v., Braun, K. P. J., Verbeek, N. E., Lindhout, D., Poot, M., Brilstra, E. H.

Journal:

Journal of Child Neurology

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

25

OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures

Kevelam, S.H., Taube, J.R., van Spaendonk, R.M.L., Bertini, E., Tarnopolsky, M., Tonduti, D., Bernard, G., Catsman-Berrevoets, C.E., van Karnebeek, C.D.M., Østergaard, J.R., Friederich, R.L., Fawzi, M

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 89 KB

english, 2015

26

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Kevelam, S. H., Rodenburg, R. J., Wolf, N. I., Ferreira, P., Lunsing, R. J., Nijtmans, L. G., Mitchell, A., Arroyo, H. A., Rating, D., Vanderver, A., van Berkel, C. G. M., Abbink, T. E. M., Heutink, P

Journal:

Year:

2013

Language:

english

File:

PDF, 622 KB

english, 2013

27

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

van der Knaap, M. S., Kevelam, S. H.

Journal:

Year:

2014

Language:

english

File:

PDF, 129 KB

english, 2014

28

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, S. H., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blaser, S., Prasad, C., Haberle, J., Baric, I., Bakker, I. M. C., Postma, N. L., Kanhai, W. A., Wolf, N. I., Abbink, T. E. M., Waisfisz, Q

Journal:

Year:

2013

Language:

english

File:

PDF, 870 KB

english, 2013

29

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

van de Pol, Laura, Wolf, Nicole, van Weissenbruch, Mirjam, Stam, Cornelie, Weiss, Janneke, Waisfisz, Quinten, Kevelam, Sietske, Bugiani, Mariana, van de Kamp, Jiddeke, van der Knaap, Marjo

Journal:

Neuropediatrics

Year:

2015

Language:

english

File:

PDF, 607 KB

english, 2015

30

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

Kevelam, Sietske, Klouwer, Femke, Fock, Johanna, Salomons, Gajja, Bugiani, Marianna, van der Knaap, Marjo

Journal:

Neuropediatrics

Year:

2015

Language:

english

File:

PDF, 188 KB

english, 2015

31

Recessive ITPA mutations cause an early infantile encephalopathy

Kevelam, Sietske H., Bierau, Jörgen, Salvarinova, Ramona, Agrawal, Shakti, Honzik, Tomas, Visser, Dennis, Weiss, Marjan M., Salomons, Gajja S., Abbink, Truus E. M., Waisfisz, Quinten, van der Knaap, M

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 420 KB

english, 2015

32

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, Sietske H., Taube, Jennifer R., van Spaendonk, Rosalina M. L., Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A.

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 852 KB

english, 2015

33

Acute intermittent porphyria-related leukoencephalopathy

Kevelam, Sietske H., Neeleman, Rochus A., Waisfisz, Quinten, Friesema, Edith C.H., Langendonk, Janneke G., van der Knaap, Marjo S.

Journal:

Year:

2016

Language:

english

File:

PDF, 492 KB

english, 2016

34

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, Sietske, Steenweg, Marjan, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole, van der Knaap, Marjo

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 170 KB

english, 2016

35

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

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, Marj

Journal:

Year:

2016

Language:

english

File:

PDF, 1.41 MB

english, 2016

36

Author response: Acute intermittent porphyria-related leukoencephalopathy

van der Knaap, Marjo S., Kevelam, Sietske H.

Journal:

Year:

2017

Language:

english

File:

PDF, 320 KB

english, 2017

37

Author response: Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

van der Knaap, Marjo S., Bugiani, Marianna, Kevelam, Sietske H.

Journal:

Year:

2017

Language:

english

File:

PDF, 186 KB

english, 2017

38

ChemInform Abstract: EIN NEUES POLYCYCLISCHES TRIAMIN-DERIVAT VON TRIDEHYDRO(12)ANNULEN UND SEINE NITROXIDE

VAN ROOSMALEN, J. H., JONES, E., KEVELAM, H. J.

Journal:

Chemischer Informationsdienst

Year:

1972

File:

PDF, 198 KB

1972

39

ChemInform Abstract: EIN NEUES POLYCYCLISCHES TRIAMIN-DERIVAT VON TRIDEHYDRO(12)ANNULEN UND SEINE NITROXIDE

VAN ROOSMALEN, J. H., JONES, E., KEVELAM, H. J.

Journal:

Chemischer Informationsdienst

Year:

1972

File:

PDF, 198 KB

1972

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