The Experts below are selected from a list of 285 Experts worldwide ranked by ideXlab platform
Erik T. Te Beek - One of the best experts on this subject based on the ideXlab platform.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders. Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar Hypoplasia. The findings implicate tRNA processing in neurological disorders.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
Bwee-tien Poll-the - One of the best experts on this subject based on the ideXlab platform.
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Mutations of TSEN and CASK genes are prevalent in pontocerebellar Hypoplasias type 2 and 4
Brain, 2011Co-Authors: Yasmin Namavar, Frank Baas, Peter G. Barth, Bwee-tien Poll-theAbstract:Sir, Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments (Barth, 2000). Recently in two subtypes, PCH type 2 (associated with dyskinesia and/or dystonia and variable degrees of spasticity) and PCH type 4 (a more severe phenotype associated with perinatal symptoms, ventilator dependency and early death), mutations have been identified in three of the four different subunits of the transfer RNA-splicing endonuclease complex ( TSEN54 , TSEN34 and TSEN2 ) (Budde et al. , 2008). Mutations in the calcium/calmodulin-dependent serine protein kinase ( CASK ) gene have also been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar Hypoplasia (Najm et al. , 2008). Namavar et al. (2011) reported on a series of 169 patients affected with PCH and identified mutations in TSEN54 or RARS2 genes in 106 individuals. The authors display a strong correlation between TSEN54 mutations and a ‘dragonfly-like’ cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. They also show that homozygosity for the common …
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders. Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar Hypoplasia. The findings implicate tRNA processing in neurological disorders.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
Yasmin Namavar - One of the best experts on this subject based on the ideXlab platform.
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Mutations of TSEN and CASK genes are prevalent in pontocerebellar Hypoplasias type 2 and 4
Brain, 2011Co-Authors: Yasmin Namavar, Frank Baas, Peter G. Barth, Bwee-tien Poll-theAbstract:Sir, Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments (Barth, 2000). Recently in two subtypes, PCH type 2 (associated with dyskinesia and/or dystonia and variable degrees of spasticity) and PCH type 4 (a more severe phenotype associated with perinatal symptoms, ventilator dependency and early death), mutations have been identified in three of the four different subunits of the transfer RNA-splicing endonuclease complex ( TSEN54 , TSEN34 and TSEN2 ) (Budde et al. , 2008). Mutations in the calcium/calmodulin-dependent serine protein kinase ( CASK ) gene have also been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar Hypoplasia (Najm et al. , 2008). Namavar et al. (2011) reported on a series of 169 patients affected with PCH and identified mutations in TSEN54 or RARS2 genes in 106 individuals. The authors display a strong correlation between TSEN54 mutations and a ‘dragonfly-like’ cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. They also show that homozygosity for the common …
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders. Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar Hypoplasia. The findings implicate tRNA processing in neurological disorders.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
Birgit Budde - One of the best experts on this subject based on the ideXlab platform.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders. Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar Hypoplasia. The findings implicate tRNA processing in neurological disorders.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.
Peter G. Barth - One of the best experts on this subject based on the ideXlab platform.
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Mutations of TSEN and CASK genes are prevalent in pontocerebellar Hypoplasias type 2 and 4
Brain, 2011Co-Authors: Yasmin Namavar, Frank Baas, Peter G. Barth, Bwee-tien Poll-theAbstract:Sir, Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments (Barth, 2000). Recently in two subtypes, PCH type 2 (associated with dyskinesia and/or dystonia and variable degrees of spasticity) and PCH type 4 (a more severe phenotype associated with perinatal symptoms, ventilator dependency and early death), mutations have been identified in three of the four different subunits of the transfer RNA-splicing endonuclease complex ( TSEN54 , TSEN34 and TSEN2 ) (Budde et al. , 2008). Mutations in the calcium/calmodulin-dependent serine protein kinase ( CASK ) gene have also been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar Hypoplasia (Najm et al. , 2008). Namavar et al. (2011) reported on a series of 169 patients affected with PCH and identified mutations in TSEN54 or RARS2 genes in 106 individuals. The authors display a strong correlation between TSEN54 mutations and a ‘dragonfly-like’ cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. They also show that homozygosity for the common …
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders. Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar Hypoplasia. The findings implicate tRNA processing in neurological disorders.
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tRNA splicing endonuclease mutations cause pontocerebellar Hypoplasia
Nature Genetics, 2008Co-Authors: Birgit Budde, Yasmin Namavar, Fred Van Ruissen, Marian A. J. Weterman, Kees Fluiter, Bwee-tien Poll-the, Peter G. Barth, Christian Becker, Gudrun Nurnberg, Erik T. Te BeekAbstract:Pontocerebellar Hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or Hypoplasia of the cerebellum, Hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.