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258篇 您的检索式:期刊名="Neurogenetics"
    题名 作者 年代 出处 被引量
1A novel missenseATP1A2 mutation in a Finnish family with familial hemiplegicmigraine type 2显示文摘Kaunisto MA Harno H Vanmolkot KR 2004Neurogenetics2004,5,2:1
2Heterogeneous dysregulation of microRNAs across the autism spectrum显示文摘Abu-Elneel K Liu T Gazzaniga FS 2008Neurogenetics2008,9,3:1
3Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlysseneephaly显示文摘Guven A Gunduz A Bozoglu TM 2012Neurogenetics2012,13,3:1
4LRRK2 pathogenic substitutions in Parkinson's disease显示文摘Mata IF Kachergus JM Taylor JP 2005Neurogenetics2005,6,:1
5Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification 显示文摘Scarciolla O Stuppia L De Angelis M V at al 2006Neurogenetics2006,7,4:1
6A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease显示文摘Cécile Cazeneuve Channkanira San Salah A. Ibrahim Maowia M. Mukhtar Musa M. Kheir Eric LeGuern Alexis Brice Mustafa A. Salih 2009neurogenetics2009,,3:1
7A common missense variant in the LRRK2 gene,Gly2385Arg,associated with Parkinson's disease risk in Taiwan显示文摘Di Fonzo A Wu-Chou YH Lu CS 2006Neurogenetics2006,7,3:1
8Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease显示文摘Jung Mi Choi Myoung Soo Woo Hyeo-Il Ma Suk Yun Kang Young-Hee Sung Seok Woo Yong Sun Ju Chung Joong-Seok Kim Hae-won Shin Chul Hyoung Lyoo Phil Hyu Lee Jong Sam Baik Sang-Jin Kim Mee Young Park Young Ho Sohn Jin-Ho Kim Jae Woo Kim Myung Sik Lee Myoung Cho 2008Neurogenetics2008,,4:1
9Molecular cell biology of Charcot- Marie-Tooth disease显示文摘Berger P Young P Suter U 2002Neurogenetics2002,4,1:1
10Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes 显示文摘Stogmann E Lichtner P Baumgartner C 2006Neurogenetics2006,7,4:1
11Mean genes and the biology of aggression显示文摘Balaban E 1996J Neurogenet1996,11,1:1
12Mutation in KIF5A can also cause adult-on- set hereditary spastic paraplegia 显示文摘Blair MA Ma S Hedera P 2006Neurogenetics2006,7,47:1
13Association analysis of 5-HT-TLPR variants,5-HT2a receptor gene 102T/C polymorph-ism andmigraine显示文摘Juhasz G Zsombok T Laszik A 2003J Neurogenet2003,17,23:1
14Mitochondrial serine pro- tease HTRA2 gene mutation in Asians with coexistent es- sential tremor and Parkinson disease 显示文摘Chao YX Ng EY Foo JN 2015Neurogenetics2015,16,3:1
15Lrrk2 pathogenic substitutions in Parkinson's disease显示文摘Mata IF Kachergus JM Taylor JP 2005Neurogenetics2005,6,4:1
16A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan显示文摘Alessio Fonzo Yah-Huei Wu-Chou Chin-Song Lu Marina Doeselaar Erik J. Simons Christan F. Rohé Hsiu-Chen Chang Rou-Shayn Chen Yi-Hsin Weng Nicola Vanacore Guido J. Breedveld Ben A. Oostra Vincenzo Bonifati 2006Neurogenetics2006,,3:1
17Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family显示文摘Miura S Shibata H Kida H 2011Neurogenetics2011,12,1:1
18The urokinase-plasminogen activator(PLAU) gene is not associated with late onset Alzheimer's disease显示文摘 Tedde A Cellini E 2005Neurogenetics2005,6,:1
19The selective phosphodiesterase 9 (PDE9) inhibitor PF-04447943 attenuates a seopolamine- induced deficit in a novel rodent attention task显示文摘VARDIGAN JD CONVERSO A HUTSON PH 2011J Neurogenet2011,25,4:1
20A LRRK2 G2019S Mutation Carrier from Turkey Shares the Japanese Haplotype 显示文摘Pirkevi C Lesage S Condroyer C 2009Neurogenetics(S1364-6745)2009,10,3:1
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