Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

Author:

Matilla-Dueñas Antoni,Goold Robert,Giunti Paola

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference65 articles.

1. Zoghbi HY, Orr HT. Spinocerebellar ataxias. In: Scriver CR, Sly WS, Childs AL, Beaudet AL, Valle D, Kinzler KW, et al., editors, The metabolic and molecular basis of inherited disease. New York: McGraw Professionals, 2001. pp 5741–58.

2. Harding AE. Clinical features and classification of inherited ataxias. In: Harding AE, Deufel T, editors. Inherited ataxias. Vol. 61, New York: Raven, 1993. pp 1–14.

3. Matilla-Dueñas A, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006;129:1357–70.

4. Spadaro M, Giunti P, Lulli P, Frontali M, Jodice C, Cappellacci S, et al. HLA-linked spinocerebellar ataxia: A clinical and genetic study of large Italian kindreds. Acta Neurol Scand. 1992;85:257–65.

5. Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology. 1995;45:24–30.

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