Authors:
HUTTON M
LENDON CL
RIZZU P
BAKER M
FROELICH S
HOULDEN H
PICKERINGBROWN S
CHAKRAVERTY S
ISAACS A
GROVER A
HACKETT J
ADAMSON J
LINCOLN S
DICKSON D
DAVIES P
PETERSEN RC
STEVENS M
DEGRAAFF E
WAUTERS E
VANBAREN J
HILLEBRAND M
JOOSSE M
KWON JM
NOWOTNY P
CHE LK
NORTON J
MORRIS JC
REED LA
TROJANOWSKI J
BASUN H
LANNFELT L
NEYSTAT M
FAHN S
DARK F
TANNENBERG T
DODD PR
HAYWARD N
KWOK JBJ
SCHOFIELD PR
ANDREADIS A
SNOWDEN J
CRAUFURD D
NEARY D
OWEN F
OOSTRA BA
HARDY J
GOATE A
VANSWIETEN J
MANN D
LYNCH T
HEUTINK P
Citation: M. Hutton et al., ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17, Nature, 393(6686), 1998, pp. 702-705
Authors:
KROOS MA
WAITFIELD AE
JOOSSE M
WINCHESTER B
REUSER AJJ
MACDERMOT KD
Citation: Ma. Kroos et al., A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Journal of inherited metabolic disease, 20(4), 1997, pp. 556-558
Authors:
HERMANS MMP
DEGRAAFF E
KROOS MA
MOHKAMSING S
EUSSEN BJ
JOOSSE M
WILLEMSEN R
KLEIJER WJ
OOSTRA BA
REUSER AJJ
Citation: Mmp. Hermans et al., THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Human molecular genetics, 3(12), 1994, pp. 2213-2218
Authors:
VANDERKRAAN M
KROOS MA
JOOSSE M
BIJVOET AGA
VERBEET MP
KLEIJER WJ
REUSER AJJ
Citation: M. Vanderkraan et al., DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II, Biochemical and biophysical research communications, 203(3), 1994, pp. 1535-1541