No mutations in CIZ1 in twelve adult‐onset primary cervical dystonia families
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[1] Anna Smith,et al. Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia , 2013, Movement disorders : official journal of the Movement Disorder Society.
[2] S. Schneider,et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. , 2012, American journal of human genetics.
[3] A. Lang,et al. Mutations in GNAL cause primary torsion dystonia , 2012, Nature Genetics.
[4] D. Maraganore,et al. Mutations in CIZ1 cause adult onset primary cervical dystonia , 2012, Annals of neurology.
[5] A. Broeks,et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study , 2012, Human mutation.
[6] M. Okun,et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites , 2012, Neurology.
[7] W. F. Abdo,et al. Clinical spectrum of ataxia-telangiectasia in adulthood , 2009, Neurology.
[8] D. Stoppa-Lyonnet,et al. Fertility defects revealing germline biallelic nonsense NBN mutations , 2009, Human mutation.
[9] S. Schneider,et al. Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia , 2009, The Cerebellum.
[10] L. Defebvre,et al. Attenuated presentation of ataxia-telangiectasia with familial cancer history , 2008, Journal of Neurology.
[11] Sara G. Becker-Catania,et al. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. , 2000, Molecular genetics and metabolism.
[12] K. Kessler,et al. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. , 1997, American journal of medical genetics.
[13] W. Weiner. Parkinson’s Disease and Movement Disorders , 2000, Current Clinical Practice.