These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
104 related articles for article (PubMed ID: 30150100)
1. Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration. Poisson A; Chatron N; Labalme A; Till M; Broussolle E; Sanlaville D; Demily C; Lesca G Biol Psychiatry; 2019 Feb; 85(4):e17-e19. PubMed ID: 30150100 [No Abstract] [Full Text] [Related]
2. Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes. Brugman F; Scheffer H; Schelhaas HJ; Nillesen WM; Wokke JH; van de Warrenburg BP; van den Berg LH J Neurol; 2009 May; 256(5):824-6. PubMed ID: 19252810 [No Abstract] [Full Text] [Related]
3. [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. Ito D; Suzuki N Rinsho Shinkeigaku; 2007 Jun; 47(6):329-35. PubMed ID: 17633104 [TBL] [Abstract][Full Text] [Related]
4. Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease. Ruiz-Riquelme A; Sánchez-Iglesias S; Rábano A; Guillén-Navarro E; Domingo-Jiménez R; Ramos A; Rosa I; Senra A; Nilsson P; García Á; Araújo-Vilar D; Requena JR Neurobiol Dis; 2015 Nov; 83():44-53. PubMed ID: 26282322 [TBL] [Abstract][Full Text] [Related]
5. Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. Alaei MR; Talebi S; Ghofrani M; Taghizadeh M; Keramatipour M Iran Biomed J; 2016 Nov; 20(5):295-301. PubMed ID: 27452399 [TBL] [Abstract][Full Text] [Related]
6. Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations. Mori E; Fujikura J; Noguchi M; Nakao K; Matsubara M; Sone M; Taura D; Kusakabe T; Ebihara K; Tanaka T; Hosoda K; Takahashi K; Asaka I; Inagaki N; Nakao K Metabolism; 2016 Apr; 65(4):543-56. PubMed ID: 26975546 [TBL] [Abstract][Full Text] [Related]
7. A new seipin-associated neurodegenerative syndrome. Guillén-Navarro E; Sánchez-Iglesias S; Domingo-Jiménez R; Victoria B; Ruiz-Riquelme A; Rábano A; Loidi L; Beiras A; González-Méndez B; Ramos A; López-González V; Ballesta-Martínez MJ; Garrido-Pumar M; Aguiar P; Ruibal A; Requena JR; Araújo-Vilar D J Med Genet; 2013 Jun; 50(6):401-9. PubMed ID: 23564749 [TBL] [Abstract][Full Text] [Related]
8. N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. Yagi T; Ito D; Nihei Y; Ishihara T; Suzuki N Hum Mol Genet; 2011 Oct; 20(19):3831-40. PubMed ID: 21750110 [TBL] [Abstract][Full Text] [Related]
9. Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ito D; Suzuki N Ann Neurol; 2007 Mar; 61(3):237-50. PubMed ID: 17387721 [TBL] [Abstract][Full Text] [Related]
10. Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene. Wu YR; Hung SI; Chang YC; Chen ST; Lin YL; Chung WH J Neurol Neurosurg Psychiatry; 2009 Oct; 80(10):1180-1. PubMed ID: 19762912 [No Abstract] [Full Text] [Related]
11. Seipin ablation in mice results in severe generalized lipodystrophy. Cui X; Wang Y; Tang Y; Liu Y; Zhao L; Deng J; Xu G; Peng X; Ju S; Liu G; Yang H Hum Mol Genet; 2011 Aug; 20(15):3022-30. PubMed ID: 21551454 [TBL] [Abstract][Full Text] [Related]
12. Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy. Cui X; Wang Y; Meng L; Fei W; Deng J; Xu G; Peng X; Ju S; Zhang L; Liu G; Zhao L; Yang H Am J Physiol Endocrinol Metab; 2012 Mar; 302(6):E705-13. PubMed ID: 22234369 [TBL] [Abstract][Full Text] [Related]
13. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Ito D; Suzuki N Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819 [TBL] [Abstract][Full Text] [Related]
14. RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype. Okamoto N; Takata A; Miyake N; Matsumoto N Congenit Anom (Kyoto); 2019 Nov; 59(6):195-196. PubMed ID: 30761613 [No Abstract] [Full Text] [Related]
15. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Irobi J; Van den Bergh P; Merlini L; Verellen C; Van Maldergem L; Dierick I; Verpoorten N; Jordanova A; Windpassinger C; De Vriendt E; Van Gerwen V; Auer-Grumbach M; Wagner K; Timmerman V; De Jonghe P Brain; 2004 Sep; 127(Pt 9):2124-30. PubMed ID: 15242882 [TBL] [Abstract][Full Text] [Related]
16. Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Ebihara C; Ebihara K; Aizawa-Abe M; Mashimo T; Tomita T; Zhao M; Gumbilai V; Kusakabe T; Yamamoto Y; Aotani D; Yamamoto-Kataoka S; Sakai T; Hosoda K; Serikawa T; Nakao K Hum Mol Genet; 2015 Aug; 24(15):4238-49. PubMed ID: 25934999 [TBL] [Abstract][Full Text] [Related]
17. Membrane topology of the human seipin protein. Lundin C; Nordström R; Wagner K; Windpassinger C; Andersson H; von Heijne G; Nilsson I FEBS Lett; 2006 Apr; 580(9):2281-4. PubMed ID: 16574104 [TBL] [Abstract][Full Text] [Related]
18. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. Luigetti M; Fabrizi GM; Madia F; Ferrarini M; Conte A; Delgrande A; Tonali PA; Sabatelli M Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400 [TBL] [Abstract][Full Text] [Related]
19. Cracking the mystery of autism spectrum disorder. EBioMedicine; 2020 Feb; 52():102691. PubMed ID: 32089274 [No Abstract] [Full Text] [Related]
20. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. Opri R; Fabrizi GM; Cantalupo G; Ferrarini M; Simonati A; Dalla Bernardina B; Darra F Seizure; 2016 Nov; 42():1-6. PubMed ID: 27632409 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]