| Title : A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face - Miyake_2021_Clin.Genet__ |
| Author(s) : Miyake N , Silva S , Troncoso M , Okamoto N , Andachi Y , Kato M , Iwabuchi C , Hirose M , Fujita A , Uchiyama Y , Matsumoto N |
| Ref : Clin Genet , : , 2021 |
| Abstract : |
| PubMedSearch : Miyake_2021_Clin.Genet__ |
| PubMedID: 34866177 |
| Gene_locus related to this paper: human-ABHD16A |
| Title : Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling - Guo_2021_Nat.Commun_12_2046 |
| Author(s) : Guo L , Iida A , Bhavani GS , Gowrishankar K , Wang Z , Xue JY , Wang J , Miyake N , Matsumoto N , Hasegawa T , Iizuka Y , Matsuda M , Nakashima T , Takechi M , Iseki S , Yambe S , Nishimura G , Koseki H , Shukunami C , Girisha KM , Ikegawa S |
| Ref : Nat Commun , 12 :2046 , 2021 |
| Abstract : |
| PubMedSearch : Guo_2021_Nat.Commun_12_2046 |
| PubMedID: 33824347 |
| Gene_locus related to this paper: human-TMEM53 |
| Title : The second point mutation in PREPL: a case report and literature review - Silva_2018_J.Hum.Genet_63_677 |
| Author(s) : Silva S , Miyake N , Tapia C , Matsumoto N |
| Ref : J Hum Genet , 63 :677 , 2018 |
| Abstract : |
| PubMedSearch : Silva_2018_J.Hum.Genet_63_677 |
| PubMedID: 29483676 |
| Gene_locus related to this paper: human-PREPL |
| Title : [Preheparin lipoprotein lipase mass and apolipoproteinC-III ratio helps identify postprandial triglyceride metabolic marker] - Miyake_2007_Rinsho.Byori_55_1019 |
| Author(s) : Miyake N , Miyake K , Higurashi H , Ohsaka A |
| Ref : Rinsho Byori , 55 :1019 , 2007 |
| Abstract : |
| PubMedSearch : Miyake_2007_Rinsho.Byori_55_1019 |
| PubMedID: 18154034 |