Heterogeneity of X-linked recessive (Spino)cerebellar ataxia with or without spastic diplegia

Author:

Apak Selçuk,Yüksel Memnune,Özmen Meral,Saka Nurçin,Darendeliler Feyza,Neuhäuser Gerhard

Publisher

Wiley

Subject

Genetics(clinical)

Reference27 articles.

1. A case of ataxic diplegia, mental retardation, congenital nystagmus and abnormal auditory brain stem responses showing only waves I and II

2. (1982): “The Genetics of Neurological Disorders.” Oxford: Oxford University Press.

3. (1966): Rezessiv X-chromosomal erbliche Ataxie. In (ed): “Humangenetik.” Vol. V/1. Stuttgart: Thieme, pp 237-298.

4. (1939): On hereditary ataxia and spastic paraplegia. In: “Treasury of Huma. Inheritance,” Vol. IV/3. London: Cambridge University Press, pp 141-281.

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1. Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia;Gene;2019-08

2. Spastic diplegia with nonperinatal asphyxia in pediatric population;International Physical Medicine & Rehabilitation Journal;2017-07-14

3. The Hereditary Ataxias;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. The Cerebellum and the Hereditary Ataxias;Swaiman's Pediatric Neurology;2012

5. Cerebral palsy: not always what it seems;Archives of Disease in Childhood;2001-11-01

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