Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Source :

• Human Mutation [ 1059-7794 ] ; 2013-10.

English descriptors

• KwdEn :
  • Blackstone, Brain iron accumulation, Brain iron deposits, Brazilian families, Brazilian family, Centre hospitalier universitaire, Clinical center, Coding region, Cognitive decline, Common origin, Exome sequencing, Extrapyramidal features, Functional importance, Globus pallidus, Hereditary, Hereditary spastic paraplegia, Hereditary spastic paraplegias, Human mutation, Hydrophobic domain, Intramural sequencing center, Iron deposition, Malian, Malian family, Membrane domain, Motor neuropathy, Mutation, National institute, National institutes, Nbia, Nbia patient, Nbia variants, Optic atrophy, Paraplegia, Phenotypic differences, Progressive spasticity, Psychiatric features, Recessive, Sequencing, Spastic, Spastic paraplegia, Spastic paraplegias, Subcellular distribution, Subcellular localization, Undiagnosed diseases program, Vision loss, Wiley periodicals.
• Teeft :
  • Blackstone, Brain iron accumulation, Brain iron deposits, Brazilian families, Brazilian family, Centre hospitalier universitaire, Clinical center, Coding region, Cognitive decline, Common origin, Exome sequencing, Extrapyramidal features, Functional importance, Globus pallidus, Hereditary, Hereditary spastic paraplegia, Hereditary spastic paraplegias, Human mutation, Hydrophobic domain, Intramural sequencing center, Iron deposition, Malian, Malian family, Membrane domain, Motor neuropathy, Mutation, National institute, National institutes, Nbia, Nbia patient, Nbia variants, Optic atrophy, Paraplegia, Phenotypic differences, Progressive spasticity, Psychiatric features, Recessive, Sequencing, Spastic, Spastic paraplegia, Spastic paraplegias, Subcellular distribution, Subcellular localization, Undiagnosed diseases program, Vision loss, Wiley periodicals.

Abstract

• https://api.istex.fr/document/43CA973D7BC48C824DDECBC285B20C7EF6D52FD7/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819934

Affiliations:

• Australie, Brésil, France, Japon, Mali, États-Unis
• Maryland, Michigan, Nouvelle-Galles du Sud, Région de Kantō, Île-de-France
• Paris, Sydney, Tokyo
• Université de Sydney, Université de Tokyo

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 000C65
• to stream Istex, to step Curation: 000C65
• to stream Istex, to step Checkpoint: 000360
• to stream Pmc, to step Corpus: 002117
• to stream Pmc, to step Curation: 001F71
• to stream Pmc, to step Checkpoint: 001A84
• to stream Ncbi, to step Merge: 001362
• to stream Ncbi, to step Curation: 001362
• to stream Ncbi, to step Checkpoint: 001362
• to stream Main, to step Merge: 004B74
• to stream Main, to step Curation: 004A50

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