Computational Analysis of Missense Mutations in Creatine Transporter Protein Associated with Creatine Deficiency Syndrome

被引:0
|
作者
Koirala, Mahesh [1 ]
Alexov, Emil [1 ]
机构
[1] Clemson Univ, Phys & Astron, Clemson, SC USA
关键词
D O I
暂无
中图分类号
Q6 [生物物理学];
学科分类号
071011 ;
摘要
961-Pos
引用
收藏
页码:197A / 197A
页数:1
相关论文
共 50 条
  • [31] Cardiac involvement in creatine deficiency syndrome
    Del Franco, A.
    Battini, R.
    Kusmic, C.
    Forini, F. S.
    L'Abbate, S.
    Masotti, S.
    Musetti, V.
    Borrelli, C.
    Barison, A.
    Emdin, M.
    Vergaro, G.
    EUROPEAN HEART JOURNAL, 2022, 43 : 2623 - 2623
  • [32] CREATINE DEFICIENCY SYNDROME: TUNISIAN EXPERIENCE
    Fehmi, N.
    Hatem, A.
    Ichraf, K.
    Sameh, K.
    Riadh, G.
    Najoua, K.
    Moncef, F.
    Naziha, K.
    Francoise, B. D. M.
    Gilbert, B.
    Naziha, K.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 134 - 135
  • [33] AN ATYPICAL FORM OF CREATINE DEFICIENCY SYNDROME
    Nasrallah, F.
    Hammami, M. B.
    Hadj, Taieb S.
    Khemir, S.
    Feki, M.
    Briand, G.
    Kaabachi, N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S99 - S99
  • [34] CREATINE DEFICIENCY SYNDROME: CASE REPORT
    Farshidi, S.
    Gaphari, S. R.
    Farokhi, B.
    Hooshmand, M.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S125 - S125
  • [35] CARDIAC INVOLVEMENT IN CREATINE DEFICIENCY SYNDROME
    Del Franco, A.
    Battini, R.
    Kusmic, C.
    Forini, F.
    L'Abbate, S.
    Masotti, S.
    Musetti, V.
    Barison, A.
    Emdin, M.
    Vergaro, G.
    EUROPEAN HEART JOURNAL SUPPLEMENTS, 2022, 24 (SUPPL C)
  • [36] Defining the Pathogenicity of Creatine Deficiency Syndrome
    Alcaide, Patricia
    Merinero, Begona
    Ruiz-Sala, Pedro
    Richard, Eva
    Navarrete, Rosa
    Arias, Angela
    Ribes, Antonia
    Artuch, Rafael
    Campistol, Jaume
    Ugarte, Magdalena
    Rodriguez-Pombo, Pilar
    HUMAN MUTATION, 2011, 32 (03) : 282 - 291
  • [37] Creatine Transporter Deficiency in Two Half-Brothers
    Ardon, Orly
    di San Filippo, Cristina Amat
    Salomons, Gajja S.
    Longo, Nicola
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 1979 - 1983
  • [38] CAREGIVER PERSPECTIVES ON THE HUMANISTIC BURDEN OF CREATINE TRANSPORTER DEFICIENCY
    Evins, A.
    Cimms, T.
    Blair, S.
    Whyte, J.
    Paulich, M.
    Hribal, E.
    Estrada, A.
    Evans, C.
    VALUE IN HEALTH, 2021, 24 : S204 - S204
  • [39] Novel translational phenotypes and biomarkers for creatine transporter deficiency
    Mazziotti, Raffaele
    Cacciante, Francesco
    Sagona, Giulia
    Lupori, Leonardo
    Gennaro, Mariangela
    Putignano, Elena
    Alessandri, Maria Grazia
    Ferrari, Annarita
    Battini, Roberta
    Cioni, Giovanni
    Pizzorusso, Tommaso
    Baroncelli, Laura
    BRAIN COMMUNICATIONS, 2020, 2 (02)
  • [40] Cerebral creatine transporter deficiency:: An infradiagnosed neurometabolic disease
    Campistol, J.
    Arias-Dimas, A.
    Poo, P.
    Pineda, M.
    Hoffman, M.
    Vilaseca, M. A.
    Artuch, R.
    Ribes, A.
    REVISTA DE NEUROLOGIA, 2007, 44 (06) : 343 - 347