검색어 : 통합검색[Neurogenetics]
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931
- Vincristine exacerbates asymptomatic Charcot-Marie-Tooth disease with a novel EGR2 mutation
- Nakamura, Tomonori; Hashiguchi, Akihiro; Suzuki, Shinsuke; Uozumi, Kimiharu; Tokunaga, Shoko; Takashima, Hiroshi; ; (Neurogenetics, v.13, 2012, pp.77-82)
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932
- Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
- Narain, Priyam; Padhi, Aditya K.; Dave, Upma; Mishra, Dibyakanti; Bhatia, Rohit; Vivekanandan, Perumal; Gomes, James; ; (Neurogenetics, v.20, 2019, pp.197-208)
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933
- Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis
- Lal, Dennis; Becker, Kerstin; Motameny, Susanne; Altmü ller, Janine; Thiele, Holger; Nü rnberg, Peter; Ahting, Uwe; Rolinski, Boris; Neubauer, Bernd A.; Hahn, Andreas; ; (Neurogenetics, v.14, 2013, pp.85-87)
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934
- Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
- Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; Derkinderen, Pascal; Defebvre, Luc; Damier, Philippe; Krystkowiak, Pierre; Pollak, Pierre; Leguern, Eric; San, Chan; Camuzat, Agnè s; Roze, Emmanuel; Vidailhet, Marie; Durr, Alexandra; Brice, Alexis; ; (Neurogenetics, v.12, 2011, pp.87-89)
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935
- Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams
- Peiwei Zhao,; Peng, Xuehua; Luo, Sukun; Huang, Yufeng; Tan, Li; Shao, Jianbo; He, Xuelian; ; (Neurogenetics, v.21, 2020, pp.97-104)
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936
- A novel heat shock protein alpha 8 (Hspa8) molecular network mediating responses to stress- and ethanol-related behaviors
- Urquhart, Kyle R.; Zhao, Yinghong; Baker, Jessica A.; Lu, Ye; Yan, Lei; Cook, Melloni N.; Jones, Byron C.; Hamre, Kristin M.; Lu; ; (Neurogenetics, v.17, 2016, pp.91-105)
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937
- Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
- Schuster, Jens; Sundblom, Jimmy; Thuresson, Ann-Charlotte; Hassin-Baer, Sharon; Klopstock, Thomas; Dichgans, Martin; Cohen, Oren S.; Raininko, Raili; Melberg, Atle; Dahl, Niklas; ; (Neurogenetics, v.12, 2011, pp.65-72)
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938
- Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
- Steinfeld, Hallie; Cho, Megan T.; Retterer, Kyle; Person, Rick; Schaefer, G. Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G.; van Gassen, Koen L.I.; Terhal, P.A.; Verhoeven, Virginie J.M.; van Slegtenhorst, Marjon A.; Monaghan, Kristin G.; Henderson, Lindsay B.; Chung, Wendy K.; ; (Neurogenetics, v.17, 2016, pp.159-164)
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939
- Up-regulation of SNCA gene expression: implications to synucleinopathies
- Tagliafierro, L.; Chiba-Falek, O.; ; (Neurogenetics, v.17, 2016, pp.145-157)
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940
- The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant
- McCarthy, Jeanette J.; Linnertz, Colton; Saucier, Laura; Burke, James R.; Hulette, Christine M.; Welsh-Bohmer, Kathleen A.; Chiba-Falek, Ornit; ; (Neurogenetics, v.12, 2011, pp.59-64)
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