Matches in Nanopublications for { ?s ?p "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP357107.RAeLx8sE97wMCE6KIoe-1_F6V7z3MzYQeOno91MmfQ61Q130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357107.RAeLx8sE97wMCE6KIoe-1_F6V7z3MzYQeOno91MmfQ61Q130_provenance.
- assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357145.RABTjUQF8ggfaISVb0OXKqMFKAIpa71LOMuQYv4H999Hk130_provenance.
- NP357146.RAnO-5Crd-KZ88ZWPAt4L3f10krrSVeYJ1UrjxRGIq7yo130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357146.RAnO-5Crd-KZ88ZWPAt4L3f10krrSVeYJ1UrjxRGIq7yo130_provenance.
- NP790914.RAroQRvf-ECAYx1pJzBAkuizROX7hzgtZ6H3bOYt9CdEI130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP790914.RAroQRvf-ECAYx1pJzBAkuizROX7hzgtZ6H3bOYt9CdEI130_provenance.
- NP790908.RACWcjXwEovynT-pAKAqe4czGTYSc3tDFd_KODaWhg9ss130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP790908.RACWcjXwEovynT-pAKAqe4czGTYSc3tDFd_KODaWhg9ss130_provenance.
- NP372284.RAjvFupHH2qOz_U23KmNuzd5Ymd4UMYXT3DGsxXX4pm-E130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372284.RAjvFupHH2qOz_U23KmNuzd5Ymd4UMYXT3DGsxXX4pm-E130_provenance.
- NP372286.RAkxCCnQljtRauKJZVC-e4UqhTaAPJ8HjZYt_VeYH4Cn0130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372286.RAkxCCnQljtRauKJZVC-e4UqhTaAPJ8HjZYt_VeYH4Cn0130_provenance.
- NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372287.RAj134xgL8xHMmb-k7D54fuH5c0UF4htvAEgCPNHWo3c4130_provenance.
- NP372288.RAowpcaA4n6iMY5t7FBhjna9Kkda9fZjemo-pP-ooCe9w130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372288.RAowpcaA4n6iMY5t7FBhjna9Kkda9fZjemo-pP-ooCe9w130_provenance.
- NP357117.RAMDpgKYb77dz_1KWA2K9AbF78QCrozKWibmLfNiKv_bY130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357117.RAMDpgKYb77dz_1KWA2K9AbF78QCrozKWibmLfNiKv_bY130_provenance.
- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_provenance.
- NP372283.RANc0pMWIkeS0ikZWmTD-xGZOJe5Y2FVfxV0SvG3vIWjA130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372283.RANc0pMWIkeS0ikZWmTD-xGZOJe5Y2FVfxV0SvG3vIWjA130_provenance.
- NP372285.RA4zMaya5ThV8sHzvLKg2sO1Fg1E_4lUykI1TEsMpqLLA130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372285.RA4zMaya5ThV8sHzvLKg2sO1Fg1E_4lUykI1TEsMpqLLA130_provenance.
- NP372289.RA6C0sr_CnDddHGNNjH3HqoAhV5Dc_OgOcW6w8S7x2Itc130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372289.RA6C0sr_CnDddHGNNjH3HqoAhV5Dc_OgOcW6w8S7x2Itc130_provenance.