Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients-Reference-Cited by-同舟云学术

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

Published:2013-02-27 Issue:11 Volume:21 Page:1312-1315
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

de Bot Susanne T,Burggraaff Rogier C,Herkert Johanna C,Schelhaas Helenius J,Post Bart,Diekstra Adinda,van Vliet Reinout O,van der Knaap Marjo S,Kamsteeg Erik-Jan,Scheffer Hans,van de Warrenburg Bart P,Verschuuren-Bemelmans Corien C,Kremer Hubertus PH

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201327.pdf

Reference12 articles.

1. Stevanin G, Azzedine H, Denora P et al: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008; 131: 772–784.

2. Riverol M, Samaranch L, Pascual B et al: Forceps minor region signal abnormality ‘ears of the lynx’: an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J Neuroimaging 2009; 19: 52–60.

3. Anheim M, Lagier-Tourenne C, Stevanin G et al: SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009; 256: 104–108.

4. Orlacchio A, Babalini C, Borreca A et al: SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010; 133: 591–598.

5. Orlen H, Melberg A, Raininko R et al: SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet 2009; 150B: 984–992.

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