Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
Weis, Joachim, Voit, Thomas, Ebinger, Friedrich, Wolf, Nicole I, Senderek, Jan, Hendershot, Linda M, Brockington, Martin, Topaloglu, Haluk, Rudnik-Schöneborn, Sabine, Breitbach-Faller, Nico, Renault, Francis, Blaschek, Astrid, Lochmüller, Hanns, Zerres, Klaus, Moser, Markus, Smith, Janine, Quijano-Roy, Susana, Krieger, Michael, North, Kathryn, Bergmann, Carsten, Herrmann, Ralf, Schröder, J Michael, Stendel, Claudia, Harting, Inga, Muntoni, Francesco
Published in Nature genetics (01.12.2005)
Published in Nature genetics (01.12.2005)
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A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain
Shimomura, K, Hörster, F, de Wet, H, Flanagan, S E, Ellard, S, Hattersley, A T, Wolf, N I, Ashcroft, F, Ebinger, F
Published in Neurology (25.09.2007)
Published in Neurology (25.09.2007)
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MRI as diagnostic tool in early-onset peroxisomal disorders
van der Knaap, M S, Wassmer, E, Wolf, N I, Ferreira, P, Topçu, M, Wanders, R J A, Waterham, H R, Ferdinandusse, S
Published in Neurology (24.04.2012)
Published in Neurology (24.04.2012)
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P.004 Endocrine and growth abnormalities in 4H leukodystrophy patients with a molecular diagnosis
Pelletier, F, Mirchi, A, Cayami, FK, Tran, LT, Ulrick, N, Polychronakos, C, Vanderver, A, Wolf, NI, Bernard, G
Published in Canadian journal of neurological sciences (01.06.2016)
Published in Canadian journal of neurological sciences (01.06.2016)
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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Wortmann, Saskia B, van Hasselt, Peter M, Barić, Ivo, Burlina, Alberto, Darin, Niklas, Hörster, Friederike, Coker, Mahmut, Ucar, Sema Kalkan, Krumina, Zita, Naess, Karin, Ngu, Lock H, Pronicka, Ewa, Riordan, Gilian, Santer, Rene, Wassmer, Evangeline, Zschocke, Johannes, Schiff, Manuel, de Meirleir, Linda, Alowain, Mohammed A, Smeitink, Jan A M, Morava, Eva, Kozicz, Tamas, Wevers, Ron A, Wolf, Nicole I, Willemsen, Michel A
Published in Neuropediatrics (01.04.2015)
Published in Neuropediatrics (01.04.2015)
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Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I, Boycott, Kym M, Dyment, David A, Kernohan, Kristin D
Published in Neurology. Genetics (01.12.2018)
Published in Neurology. Genetics (01.12.2018)
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Epilepsy and inborn errors of metabolism in children
Wolf, N. I., García-Cazorla, A., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G
Published in Canadian journal of neurological sciences (01.06.2019)
Published in Canadian journal of neurological sciences (01.06.2019)
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Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy
Hoffmann, G. F., Schmitt, B., Windfuhr, M., Wagner, N., Strehl, H., Bagci, S., Franz, A. R., Mills, P. B., Clayton, P. T., Baumgartner, M. R., Steinmann, B., Bast, T., Wolf, N. I., Zschocke, J.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
Claes, Lieve, Ceulemans, Berten, Audenaert, Dominique, Smets, Katrien, Löfgren, Ann, Del-Favero, Jurgen, Ala-Mello, Sirpa, Basel-Vanagaite, Lina, Plecko, Barbara, Raskin, Salmo, Thiry, Paul, Wolf, Nicole I., Van Broeckhoven, Christine, De Jonghe, Peter
Published in Human mutation (01.06.2003)
Published in Human mutation (01.06.2003)
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Mental retardation and inborn errors of metabolism
García-Cazorla, A., Wolf, N. I., Serrano, M., Moog, U., Pérez-Dueñas, B., Póo, P., Pineda, M., Campistol, J., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
Wolf, N I, Harting, I, Boltshauser, E, Wiegand, G, Koch, M J, Schmitt-Mechelke, T, Martin, E, Zschocke, J, Uhlenberg, B, Hoffmann, G F, Weber, L, Ebinger, F, Rating, D
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease
Wolf, Nicole I., Sistermans, Erik A., Cundall, Maria, Hobson, Grace M., Davis-Williams, Angelique P., Palmer, Rodger, Stubbs, Paula, Davies, Sally, Endziniene, Milda, Wu, Yvonne, Chong, Wui K., Malcolm, Sue, Surtees, Robert, Garbern, James Y., Woodward, Karen J.
Published in Brain (London, England : 1878) (01.04.2005)
Published in Brain (London, England : 1878) (01.04.2005)
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Inborn errors of metabolism and motor disturbances in children
García-Cazorla, A, Wolf, N. I, Serrano, M, Pérez-Dueñas, B, Pineda, M, Campistol, J, Fernández-Alvarez, E, Colomer, J, DiMauro, S, Hoffmann, G. F
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood
Gramer, Gwendolyn, Wolf, Nicole I, Vater, Daniel, Bast, Thomas, Santer, René, Kamsteeg, Erik-Jan, Wevers, Ron A, Ebinger, Friedrich
Published in Neuropediatrics (01.06.2012)
Published in Neuropediatrics (01.06.2012)
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Syndactyly, tremor, and hypomyelination associated with oculodentodigital dysplasia
Ries, M, Moog, U, Karch, S, Seitz, A, Kohlhase, J, Pietz, J, Wolf, NI
Published in Neuropediatrics (28.03.2011)
Published in Neuropediatrics (28.03.2011)
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Conference Proceeding
Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain
Kölker, Stefan, Schwab, Marina, Hörster, Friederike, Sauer, Sven, Hinz, Angela, Wolf, Nicole I, Mayatepek, Ertan, Hoffmann, Georg F, Smeitink, Jan A M, Okun, Jürgen G
Published in The Journal of biological chemistry (28.11.2003)
Published in The Journal of biological chemistry (28.11.2003)
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Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers
Tonduti, Davide, Pichiecchio, Anna, Wolf, Nicole I, Ariaudo, Giada, van der Knaap, Marjo S, Bastianello, Stefano, Balottin, Umberto, Orcesi, Simona
Published in Neuropediatrics (01.08.2013)
Published in Neuropediatrics (01.08.2013)
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