New Genetic Variants of Parotid Salivary Amylase

Autor: Pronk, J. C., Frants, R. R.

Publikováno v: Human Heredity, 1979 Jan 01. 29(3), 181-186.

Externí odkaz: https://www.jstor.org/stable/45101449

Vacuolating megalencephalic leukoencephalopathy:24 Year follow-up of two siblings

Autor: Pascual-Castroviejo, I., Van Der Knaap, M. S., Pronk, J. C., García-Segura, J. M., Gutiérrez-Molina, M., Pascual-Pascual, S. I.

Publikováno v: Pascual-Castroviejo, I, Van Der Knaap, M S, Pronk, J C, García-Segura, J M, Gutiérrez-Molina, M & Pascual-Pascual, S I 2005, ' Vacuolating megalencephalic leukoencephalopathy : 24 Year follow-up of two siblings ', Neurologia, vol. 20, no. 1, pp. 33-40 .

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder with a chronic progressive course. The gene, MLC1, has been localized on chromosome 22qtell and 26 different mutations have been described. We report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10172::e6123eab8d6e7830216d4c5d7887ebd8
https://research.vumc.nl/en/publications/81a88a7c-0670-4c63-a3f2-5427fc14f87f

Erratum:Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts (Human Genetics (2002) 110 (279-283))

Autor: Leegwater, P. A.J., Boor, P. K.I., Yuan, B. Q., Van Der Steen, J., Visser, A., Könst, A. A.M., Oudejans, C. B.M., Schutgens, R. B.H., Pronk, J. C., Van Der Knaap, M. S.

Publikováno v: Leegwater, P A J, Boor, P K I, Yuan, B Q, Van Der Steen, J, Visser, A, Könst, A A M, Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van Der Knaap, M S 2002, ' Erratum : Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts (Human Genetics (2002) 110 (279-283)) ', Human Genetics, vol. 111, no. 1, pp. 114 . https://doi.org/10.1007/s00439-002-0756-9
Human Genetics, 111(1). Springer Verlag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a405d496c5c1862d1f9a2d9e75a53690
https://research.vumc.nl/en/publications/c8f4b272-1b71-43a4-bb75-40cefdd7cba4

Association of WKL1/MLC1 with catatonic schizophrenia

Autor: Leegwater, P. A.J., Boor, P. K.I., Pronk, J. C., Van der Knaap, M. S., Meyer, J., Scherer, S. J., Mössner, R., Lesch, K. P.

Publikováno v: Leegwater, P A J, Boor, P K I, Pronk, J C, Van der Knaap, M S, Meyer, J, Scherer, S J, Mössner, R & Lesch, K P 2002, ' Association of WKL1/MLC1 with catatonic schizophrenia ', Molecular Psychiatry, vol. 7, no. 10, pp. 1037-1038 . https://doi.org/10.1038/sj.mp.4001142
Molecular Psychiatry, 7(10), 1037-1038. Nature Publishing Group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ae9993e4d96cb818f333ffc2a0d784
https://doi.org/10.1038/sj.mp.4001142

Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.

Autor: Gallo A, Rocca MA, Falini A, Scaglione C, Salvi F, Gambini A, Guerrini L, Mascalchi M, Pronk JC, van der Knaap MS, Filippi M, Gallo, A, Rocca, M A, Falini, A, Scaglione, C, Salvi, F, Gambini, A, Guerrini, L, Mascalchi, M, Pronk, J C

Publikováno v: Neurology; 2004 Jan 27, Vol. 62 Issue 2, p323-326, 4p