Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia

(2012) Paul F. Worth et al.   MOVEMENT DISORDERS

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

(2012) R. Saunders-Pullman et al.   NEUROLOGY

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

(2011) Mijke M. M. Verhagen et al.   HUMAN MUTATION

Clinical spectrum of ataxia-telangiectasia in adulthood

(2009) M.M.M. Verhagen et al.   NEUROLOGY

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

(2008) Fatima Carrillo et al.   CEREBELLUM

Fertility defects revealing germline biallelic nonsenseNBNmutations

(2008) Mathilde Warcoin et al.   HUMAN MUTATION

Attenuated presentation of ataxia-telangiectasia with familial cancer history

(2008) C. Simonin et al.   JOURNAL OF NEUROLOGY