Homozygosity for c 6325T>G transition in the gene causes an atypical, late-onset variant form of ataxia-telangiectasia

Author： Silvestri Gabriella Masciullo Marcella Piane Maria Savio Camilla Modoni Anna Santoro Massimo Chessa Luciana

ISSN： 0340-5354

Source： Journal of Neurology, Vol.257, Iss.10, 2010-10, pp. : 1738-1740

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Association of MTHFR gene polymorphism C677T with susceptibility to late-onset alzheimer’s disease

By Wang Binbin Jin Feng Kan Rui Ji Shun Zhang Chuanfang Lu Zeping Zheng Chenguang Yang Ze Wang Li

Journal of Molecular Neuroscience, Vol. 27, Iss. 1, 2005-02 ,pp. : 23-27

Humana Press, Inc

Access to resources Recommend Favorite

Genetic association of BACE1 gene polymorphism C786G with late-onset Alzheimer’s disease in Chinese

By Kan Rui Wang Binbin Zhang Chuanfang Jin Feng Yang Ze Ji Shun Lu Zeping Zheng Chenguang Wang Li

Journal of Molecular Neuroscience, Vol. 25, Iss. 2, 2005-06 ,pp. : 127-131

Humana Press, Inc

Access to resources Recommend Favorite

Ataxia-Telangiectasia and Related Diseases

NeuroMolecular Medicine, Vol. 8, Iss. 4, 2006-12 ,pp. : 495-512

Humana Press, Inc

Access to resources Recommend Favorite

Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity

By Yano Hidetaka Nakaso Kazuhiro Yasui Kenichi Wakutani Yosuke Nakayasu Hiroyuki Kowa Hisanori Adachi Yoshiki Nakashima Kenji

Neurogenetics, Vol. 5, Iss. 2, 2004-06 ,pp. : 135-140

Springer Publishing Company

Access to resources Recommend Favorite

A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes

By Jimenez-Escrig Adriano

Brain, Vol. 128, Iss. 7, 2005-07 ,pp. : 1707-1715

Oxford University Press

Access to resources Recommend Favorite