Publications:
DB,
Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia
U, van der Knaap MS, Heutink P, John SW. Mutations in Col4a1 cause
perinatal cerebral hemorrhage and porencephaly. Science.
2005 May 20;308(5725):1167-71.
Aguglia
U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina
D, Quattrone A, Heutink P. Suggestive evidence for linkage to
chromosome 13qter for autosomal dominant type 1 porencephaly.
Neurology . 2004 May 11;62(9):1613-5.
Bonifati
V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker
MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N,
van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink
P. Mutations in the DJ-1 gene associated with autosomal recessive
early-onset parkinsonism. Science . 2003 Jan
10;299(5604):256-9.
Njajou
OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH,
Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM,
Heutink P. A mutation in SLC11A3 is associated with autosomal
dominant hemochromatosis. Nat Genet . 2001 Jul;28(3):213-4.
Hutton
M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown
S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln
S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters
E, van Baren 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 JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary
D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D,
Lynch T, Heutink P. Association of missense and 5'-splice-site
mutations in tau with the inherited dementia FTDP-17. Nature
. 1998 Jun 18;393(6686):702-5.
|