![Brain Sciences | Free Full-Text | Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I Brain Sciences | Free Full-Text | Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I](https://pub.mdpi-res.com/brainsci/brainsci-08-00136/article_deploy/html/images/brainsci-08-00136-g002.png?1570293136)
Brain Sciences | Free Full-Text | Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I
![Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation | PNAS Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation | PNAS](https://www.pnas.org/cms/10.1073/pnas.0908457107/asset/e56c3e40-eea7-4c39-bd7e-71bff0768103/assets/graphic/pnas.0908457107fig02.jpeg)
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation | PNAS
![Troyer Syndrome Protein Spartin Is Mono-Ubiquitinated and Functions in EGF Receptor Trafficking | Molecular Biology of the Cell Troyer Syndrome Protein Spartin Is Mono-Ubiquitinated and Functions in EGF Receptor Trafficking | Molecular Biology of the Cell](https://www.molbiolcell.org/cms/10.1091/mbc.e06-09-0833/asset/images/medium/zmk0050780490003.jpeg)
Troyer Syndrome Protein Spartin Is Mono-Ubiquitinated and Functions in EGF Receptor Trafficking | Molecular Biology of the Cell
![Three cases of Troyer syndrome in two families of Filipino descent - Butler - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library Three cases of Troyer syndrome in two families of Filipino descent - Butler - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/b18ed558-c1c2-4ded-8709-9a378c802f0b/ajmga37658-fig-0002-m.jpg)
Three cases of Troyer syndrome in two families of Filipino descent - Butler - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
![Three cases of Troyer syndrome in two families of Filipino descent - Butler - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library Three cases of Troyer syndrome in two families of Filipino descent - Butler - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/72b91bd5-0239-4db6-baba-c0cf98e3ebca/ajmga37658-fig-0001-m.jpg)
Three cases of Troyer syndrome in two families of Filipino descent - Butler - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
![TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability - ScienceDirect TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S1090379815001774-gr2.jpg)