Ataxie mit okulomotorischer Apraxie Typ 2: Charakterisierung des ...

Literaturverzeichnis 76
57 Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease.
Hum Genet. 1988; 78: 151-5.
58 Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, et
al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Brain. 2003; 126: 2761-72.
59 Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair
(Amst). 2004; 3: 1187-96.
60 Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and
genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996; 335:
1169-75.
61 Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T,
Abrahamsen TG. Alpha fetoprotein is increasing with age in ataxia-telangiectasia.
Eur J Paediatr Neurol. 2007; 11: 375-80.
62 Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al.
A method and server for predicting damaging missense mutations. Nat Methods. 7:
248-9.
63 Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, et
al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
N Engl J Med. 362: 1181-91.
64 Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, et
al. Mitochondrial DNA polymerase W748S mutation: a common cause of
autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005;
77: 430-41.
65 Van Goethem G, Lofgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven
C. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive
mutations in POLG and C10orf2/Twinkle. Hum Mutat. 2003; 22: 175-6.