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17 Possible Causes for Mutation in the SYNE1 Gene, Mutation in the WWOX Gene

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] Mutations in the SYNE1 gene cause ARCA1 .[ghr.nlm.nih.gov] Gene Human Gene Mutation Database (HGMD) SYNE1 SNPedia medical, phenotypic, and genealogical associations of SNPs for SYNE1 SNP Genotyping and Copy Number Assay Products[genecards.org]

  • Autosomal Recessive Spinocerebellar Ataxia

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Mutations in the SYNE1 gene cause ARCA1 .[ghr.nlm.nih.gov] […] cause of autosomal recessive cerebellar ataxia. [3] Cause [ edit ] ARCA1 is caused by the mutated SYNE1 gene that is vital for the synthesis of Syne-1 protein in the Purkinje[en.wikipedia.org]

  • Autosomal Dominant Spastic Paraplegia Type 8

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] This form of the CMD is caused by mutations of the SYNE1 gene. ADDITIONAL RARE FORMS OF CMDS WITH OR WITHOUT A KNOWN GENETIC DEFECT.[rarediseases.org]

  • Autosomal Dominant Spastic Paraplegia Type 13

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] This form of the CMD is caused by mutations of the SYNE1 gene. ADDITIONAL RARE FORMS OF CMDS WITH OR WITHOUT A KNOWN GENETIC DEFECT.[rarediseases.org]

  • Autosomal Dominant Spastic Paraplegia Type 19

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] This form of the CMD is caused by mutations of the SYNE1 gene. ADDITIONAL RARE FORMS OF CMDS WITH OR WITHOUT A KNOWN GENETIC DEFECT.[rarediseases.org]

  • Autosomal Recessive Spastic Ataxia Type 2

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com] A single locus on chromosome 6q25.1-q25.2 has been mapped and mutations in the SYNE1 gene have been associated with the disease.[wjgnet.com]

  • Autosomal Recessive Spastic Paraplegia Type 61

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com] A single locus on chromosome 6q25.1-q25.2 has been mapped and mutations in the SYNE1 gene have been associated with the disease.[wjgnet.com]

  • Autosomal Recessive Spastic Paraplegia Type 53

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com] […] to the SYNE1 gene (6q25.2), which codes for nesprin-1, a nuclear membrane protein involved in linking the nucleoskeleton to the cytoskeleton.[elsevier.es]

  • Autosomal Recessive Spastic Paraplegia Type 44

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com] A single locus on chromosome 6q25.1-q25.2 has been mapped and mutations in the SYNE1 gene have been associated with the disease.[wjgnet.com]

  • Autosomal Recessive Spastic Paraplegia Type 48

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] […] to the SYNE1 gene (6q25.2), which codes for nesprin-1, a nuclear membrane protein involved in linking the nucleoskeleton to the cytoskeleton.[elsevier.es] […] hypointensities in the pons ( Fig. 1 C and D); diffusion tensor imaging reveals alterations to the pontocerebellar fibres. 42,43 Recessive cerebellar ataxias ARCA1 is caused by mutations[elsevier.es]

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