Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome von Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud

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Recessive ITPA mutations cause an early infantile encephalopathy von 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, Marjo S.

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Novel (ovario) leukodystrophy related to AARS2 mutations von Dallabona, Cristina, Diodato, Daria, Kevelam, Sietske H, Haack, Tobias B, Wong, Lee-Jun, Salomons, Gajja S, Baruffini, Enrico, Melchionda, Laura, Mariotti, Caterina, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Chapman, Kim, Colley, Alison, Rocha, Helena, Őunap, Katrin, Schiffmann, Raphael, Salsano, Ettore, Savoiardo, Mario, Hamilton, Eline M, Abbink, Truus E M, Wolf, Nicole I, Ferrero, Ileana, Lamperti, Costanza, Zeviani, Massimo, Vanderver, Adeline, Ghezzi, Daniele, van der Knaap, Marjo S

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

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Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep von Kevelam, Sietske H.G., Jansen, Floor E., Binsbergen, Ellen van, Braun, Kees P.J., Verbeek, Nienke E., Lindhout, Dick, Poot, Martin, Brilstra, Eva H.

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Author response: Acute intermittent porphyria-related leukoencephalopathy von van der Knaap, Marjo S, Kevelam, Sietske H

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Author response: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) von van der Knaap, Marjo S, Bugiani, Marianna, Kevelam, Sietske H

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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern von KEVELAM, Sietske H, RODENBURG, Richard J, BERKEL, Carola G. M. Van, ABBINK, Truus E. M, HEUTINK, Peter, VAN DER KNAAP, Marjo S, WOLF, Nicole I, FERREIRA, Patrick, LUNSING, Roelineke J, NIJTMANS, Leo G, MITCHELL, Anne, ARROYO, Hugo A, RATING, Dietz, VANDERVER, Adeline

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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy von KEVELAM, Sietske H, BUGIANI, Marianna, KANHAI, Warsha A, WOLF, Nicole I, ABBINK, Truus E. M, WAISFISZ, Quinten, HEUTINK, Peter, DER KNAAP, Marjo S. Van, SALOMONS, Gajja S, FEIGENBAUM, Annette, BLASER, Susan, PRASAD, Chitra, HÄBERLE, Johannes, BARIC, Ivo, BAKKER, Ingrid M. C, POSTMA, Nienke L

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Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease von van der Knaap, Marjo S, Kevelam, Sietske H

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Acute intermittent porphyria-related leukoencephalopathy von Kevelam, Sietske H, Neeleman, Rochus A, Waisfisz, Quinten, Friesema, Edith C.H, Langendonk, Janneke G, van der Knaap, Marjo S

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 von Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.

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LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy von Kevelam, Sietske H., van Engelen, Baziel G.M., van Berkel, Carola G.M., Küsters, Benno, van der Knaap, Marjo S.

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Altered PLP1 splicing causes hypomyelination of early myelinating structures von Kevelam, Sietske H., Taube, Jennifer R., Spaendonk, Rosalina M. L., Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A., Bernard, Geneviève, Catsman‐Berrevoets, Coriene E., Karnebeek, Clara D. M., Østergaard, John R., Friederich, Richard L., Fawzi Elsaid, Mahmoud, Schieving, Jolanda H., Tarailo‐Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E., Berkel, Carola G. M., Waisfisz, Quinten, Abbink, Truus E. M., Knaap, Marjo S., Hobson, Grace M., Wolf, Nicole I.

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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy von Kevelam, Sietske H, Bugiani, Marianna, Salomons, Gajja S, Feigenbaum, Annette, Blaser, Susan, Prasad, Chitra, Häberle, Johannes, Barić, Ivo, Bakker, Ingrid M C, Postma, Nienke L, Kanhai, Warsha A, Wolf, Nicole I, Abbink, Truus E M, Waisfisz, Quinten, Heutink, Peter, van der Knaap, Marjo S

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Gain of glycosylation in integrin alpha 3 causes lung disease and nephrotic syndrome von Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud

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Gain of glycosylation in integrin [alpha]3 causes lung disease and nephrotic syndrome von Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud

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A Patient With a Mild Holoprosencephaly Spectrum Phenotype and Heterotaxy and a 1.3 Mb Deletion Encompassing GL12 von KEVELAM, Sietske H. G, VAN HARSSEL, Jeske J. T, DER ZWAAG, Bert Van, SMEETS, Hubertus J. M, PAULUSSEN, Aimee D. C, LICHTENBEIT, Klaske D

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2 von Kevelam, Sietske HG, van Harssel, Jeske JT, van der Zwaag, Bert, Smeets, Hubertus JM, Paulussen, Aimee DC, Lichtenbelt, Klaske D

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Altered PLP 1 splicing causes hypomyelination of early myelinating structures von Kevelam, Sietske H, Taube, Jennifer R, Rosalina M. L. van Spaendonk, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Coriene E. Catsman‐Berrevoets, Clara D. M. van Karnebeek, Østergaard, John R, Friederich, Richard L, Mahmoud Fawzi Elsaid, Schieving, Jolanda H, Maja Tarailo‐Graovac, Orcesi, Simona, Steenweg, Marjan E, Carola G. M. van Berkel, Waisfisz, Quinten, Abbink, Truus E M, Marjo S. van der Knaap, Hobson, Grace M, Wolf, Nicole I

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