Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum

[1]  A. Singleton,et al.  SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia , 2008, Neurology.

[2]  F. Pasquier,et al.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. , 2008, Brain : a journal of neurology.

[3]  A. Durr,et al.  Hereditary spastic paraplegias: an update , 2007, Current opinion in neurology.

[4]  J. Winkler,et al.  Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia , 2007, Annals of neurology.

[5]  K. Xia,et al.  [Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum]. , 2007, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

[6]  J. Gécz,et al.  Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation , 2007, Nature Genetics.

[7]  N. Bresolin,et al.  SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation , 2007, Neurogenetics.

[8]  M. Nair,et al.  Hereditary spastic paraplegia with a thin corpus callosum , 2007, Pediatric Radiology.

[9]  M. Ruberg,et al.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum , 2007, Nature Genetics.

[10]  U. Bogdahn,et al.  Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature , 2006, Clinical Neurology and Neurosurgery.

[11]  J Kassubek,et al.  The Spastic Paraplegia Rating Scale (SPRS) , 2006, Neurology.

[12]  E. Bertini,et al.  Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity , 2006, Neurogenetics.

[13]  S. Klebe,et al.  Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. , 2006, Archives of neurology.

[14]  C. Broeckhoven,et al.  A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy , 2006, Neurology.

[15]  J. Winkler,et al.  Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. , 2006, Neuropediatrics.

[16]  赵国华,et al.  Analysis on mutations of spastin, atlastin and paraplegin genes in Chinese patients with hereditary spastic paraplegia , 2005 .

[17]  Tang Bei-sha Clinical Features and Maspardin Gene Mutation Analysis of Hereditary Spastic Paraplegia with Thin Corpus Callosum , 2005 .

[18]  B. Tang,et al.  Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. , 2004, Chinese medical journal.

[19]  E. Rugarli,et al.  Hereditary spastic paraplegia: clinical genetic study of 15 families. , 2004, Archives of neurology.

[20]  L. Maquat Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics , 2004, Nature Reviews Molecular Cell Biology.

[21]  A. Rossi,et al.  Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum , 2004, Neurology.

[22]  H. Cross,et al.  Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. , 2003, American journal of human genetics.

[23]  Hereditary spastic paraplegia , 2006, Neurologic clinics.

[24]  C. McDermott,et al.  Hereditary spastic paraparesis: a review of new developments , 2000, Journal of neurology, neurosurgery, and psychiatry.

[25]  H. Utsumi,et al.  Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13–15 , 2000, Annals of neurology.

[26]  J. Prud'homme,et al.  Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. , 1999, Archives of neurology.

[27]  E. Hoffman,et al.  Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 , 1999, Neurology.

[28]  M. Senda,et al.  Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan , 1998, Neurology.

[29]  A. Ballabio,et al.  A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. , 1998, American journal of human genetics.

[30]  A. Nakamura,et al.  Familial spastic paraplegia with mental impairment and thin corpus callosum , 1995, Journal of the Neurological Sciences.

[31]  R. Stevenson,et al.  X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene , 1994, Nature Genetics.

[32]  J. Weissenbach,et al.  Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q , 1993, Nature genetics.

[33]  A. Harding Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. , 1981, Journal of neurology, neurosurgery, and psychiatry.