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在“Elsevier电子期刊”中，命中：81条，耗时：0.0289852 秒

在所有数据库中总计命中：148条

1.Mthfr as a modifier of the retinal phenotype of Crb1^rd8/rd8 mice

作者：Shanu Markand^a ; ^b ; Alan Saul^b ; ^c ; Amany Tawfik^a ; ^b ; Xuezhi Cui^a ; ^b ; Rima Rozen^d ; Sylvia B. Smith^a ; ^b ; ^c ; ^{sbsmith@gru.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：CRB1 ; Homocysteine ; Retina ; rd8 ; MTHFR ; Mouse ; LCA ; RP

刊名：Experimental Eye Research

出版年：2016

2.Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism

作者：Mari Akiyama^a ; ¹ ; Tomoyuki Akiyama^a ; ¹ ; ^{takiyama@okayama-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Kaoruko Kanamaru^b ; Mutsuko Kuribayashi^b ; Hiroko Tada^c ; Tsugumi Shiokawa^c ; Soichiro Toda^d ; Katsumi Imai^e ; Yu Kobayashi^f ; Jun Tohyama^f ; Takafumi Sakakibara^g ; Harumi Yoshinaga^a ; ^h ; Katsuhiro Kobayashi^a ; ^h

关键词：5MTHF ; 5-methyltetrahydrofolate ; CFD ; cerebral folate deficiency ; CSF ; cerebrospinal fluid ; FRα ; folate receptor alpha ; MTHFR ; methylenetetrahydrofolate reductase

刊名：Clinica Chimica Acta

出版年：2016

3.Glutamatergic synapse protein composition of wild-type mice is sensitive to in utero MTHFR genotype and the timing of neonatal vigabatrin exposure

作者：Chava Zuckerman^a ; ^b ; Elinor Blumkin^a ; ^b ; Osnat Melamed^a ; ^b ; Hava M. Golan^a ; ^b ; ^{havag@bgu.ac.il" class="auth_mail" title="E-mail the corresponding author}

关键词：AED ; antiepileptic drugs ; AMPA ; a-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid ; CaMKII ; Calcium/calmodulin-dependent kinase II ; Dab1 ; Disabled-1 ; EPM ; elevated plus maze ; FMRP ; Fragile X mental retardation 1 protein ; GluR1 ; AMPA receptor subunit 1 ; GluR2 ; AMPA receptor subunit 2 ; GVG ; Vigabatrin ; KCC2 ; K+-Cl- transporter ; MTHFR ; Methylenetetrahydrofolate reductase ; NLG1 ; Neuroligin 1 ; NKCC1 ; Na+-K+-2Cl ; co-transporter ; NMDA ; N-methyl-di-aspartate ; NR2A ; NMDA receptor subunit 2A ; NR2B ; NMDA

刊名：European Neuropsychopharmacology

出版年：2015

4.Risk Factors for Thrombosis Development in Mexican Patients

作者：Cé ; sar Zavala-Herná ; ndez¹ ; Edgar Herná ; ndez-Zamora² ; ^{edgarhz1969@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Carlos Martí ; nez-Murillo³ ; Abraham Majluf-Cruz⁴ ; Jorge Vela-Ojeda⁵ ; ⁶ ; Jaime Garcí ; a-Chá ; vez⁶ ; Elba Reyes-Maldonado⁵ ; ^{elbareyesm@gmail.com" class="auth_mail" title="E-mail the corresponding author}

刊名：Annals of Vascular Surgery

出版年：2015

5.High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

作者：Mehmet Karaca ; Burcu Hismi ; Riza Koksal Ozgul ; Sefayet Karaca ; Didem Yucel Yilmaz ; Turgay Coskun ; Hatice Serap Sivri ; Aysegul Tokatli ; Ali Dursun

关键词：AdoMet ; S-adenosyl-l-methionine ; AT ; right atrial thrombosis ; CBS ; cystathionine beta-synthase ; CVST ; cerebral venous sinus thrombosis ; dHPLC ; denaturating high-performance liquid chromatography ; DVT ; deep vein thrombosis ; F ; female ; Hcy ; homocysteine ; KS ; kyphoscoliosis ; LE ; lens ectopia ; LTS ; left transverse sinus ; M ; male ; MA ; megaloblastic anemia ; MF ; marfanoid features ; MR ; malar rash ; MTHFR ; methylenetetrahydrofolate reductase ; MTR ; methionine synthase ; MTRR ; methionine synthase reductase

刊名：Gene

出版年：25 January, 2014

6.Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice

作者：Tamar Levav-Rabkin ; Elinor Blumkin ; Dalia Galron ; Hava M. Golan

关键词：Recognition memory ; Open-field ; Exploration ; Reflex development ; Mthfr deficiency ; Sex-dependent behavior

刊名：Behavioural Brain Research

出版年：2011

7.Homocysteine and migraine. A narrative review

作者：Giuseppe Lippi^a ; ^{glippi@ao.pr.it" class="auth_mail} ; ^{ulippi@tin.it" class="auth_mail} ; Camilla Mattiuzzi^b ; Tiziana Meschi^c ; Gianfranco Cervellin^d ; Loris Borghi^c

关键词：CBS ; cystathionine beta synthase ; CPS1 ; carbamoyl-phosphate synthase 1 ; CUBN ; cubilin ; DPEP1 ; dipeptidase 1 ; FUT 2 ; fucosyltransferase 2 ; GABA ; gamma-amino butyric acid ; GTPB10 ; GTP-binding protein 10 ; HIS ; International Headache Society ; HNF1A ; hepatocyte nuclear factor-1伪 ; MMACHC ; methylmalonic aciduria (cobalamin deficiency) CblC type with homocystinuria ; MS ; methionine synthase ; MTHFR ; methylenetetrahydrofolate reductase ; MTR ; 5-methyltetrahydrofolate-homocysteine methyltransferase ; MUT ; met

刊名：Clinica Chimica Acta

出版年：10 June 2014

8.A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews

作者：Shay Ben-Shachar^a ; Tal Zvi^a ; Arndt Rolfs^b ; ^c ; Andrea Breda Klobus^c ; Yuval Yaron^a ; ^d ; Anat Bar-Shira^a ; Avi Orr-Urtreger^a ; ^d ; ^{aviorr@tasmc.health.gov.il}

关键词：MTHFR ; Founder mutation ; Bukhara

刊名：Molecular Genetics and Metabolism

出版年：2012

9.Folate deficiency enhances the inflammatory response of macrophages

作者：Andreas F. Kolb ; ^{a.kolb@abdn.ac.uk} ; Linda Petrie

关键词：ANOVA ; analysis of variance ; CBS ; cystathionine-¦Â-synthase ; DMEM ; Dulbecco's modified Eagle's medium ; Dnmt ; DNA methyl-transferase ; FCS ; foetal calf serum ; IL ; interleukin ; MCP ; monocyte chemotactic protein 1 ; LPS ; lipopolysaccharide ; MTHFR ; methylene-te

刊名：Molecular Immunology

出版年：2013

10.Homocysteine contribution to DNA damage in cystathionine 尾-synthase-deficient patients

作者：Camila Simioni Vanzin^a ; ^b ; ^{cami_vanzin@hotmail.com" class="auth_mail} ; Vanusa Manfredini^c ; Ana Eveline Marinho^c ; Giovana Brondani Biancini^a ; ^b ; Graziela Schmitt Ribas^b ; Marion Deon^b ; Angela Terezinha de Souza Wyse^a ; Moacir Wajner^a ; ^b ; Carmen Regla Vargas^a ; ^b ;

关键词：CAT ; catalase ; CBS ; cystathionine 尾-synthase ; DI ; damage index ; Hcy ; homocysteine ; LC&ndash ; MS/MS ; liquid chromatography electrospray tandem mass spectrometry ; MTHFR ; methylenetetrahydrofolate reductase ; ROS ; reactive oxygen species ; SAH ; S-adenosylhomocysteine ; SOD ; superoxide dismutase ; SPSS ; Statistical Package for the Social Sciences ; tHcy ; total homocysteine

刊名：Gene

出版年：15 April, 2014

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