Screening for the FMR1 premutation in Greek patients with late-onset cerebellar ataxia

被引：0
|
作者：
Seferiadi, Maria [1 ]
Kartanou, Chrisoula [1 ]
Sofocleous, Christalena [2 ,3 ]
Traeger-Synodinos, Joanne [2 ]
Karadima, Georgia [1 ]
Koutsis, George [1 ]
机构：
[1] Natl & Kapodistrian Univ Athens, Neurogenet Unit, Dept Neurol 1, Sch Med,Eginit Hosp, Athens, Greece
[2] Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Med Genet Lab, Athens, Greece
[3] Aghia Sophia Childrens Hosp, Res Univ Inst Study Genet & Malignant Dis Childho, Athens, Greece
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.057.B
引用
收藏
页码：277 / 278
页数：2
相关论文
共 50 条
  • [31] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
    Mai Tsuchiya
    Haitian Nan
    Kishin Koh
    Yuta Ichinose
    Lihua Gao
    Keisuke Shimozono
    Takanori Hata
    Yeon-Jeong Kim
    Toshihisa Ohtsuka
    Andrea Cortese
    Yoshihisa Takiyama
    Journal of Human Genetics, 2020, 65 : 1143 - 1147
  • [32] Dystonia in FMR1 premutation carriers
    Vaughan, C. L.
    Ouyang, B.
    Goetz, C. G.
    Berry-Kravis, E. M.
    Hagerman, R. J.
    Leehey, M. A.
    Hall, D. A.
    MOVEMENT DISORDERS, 2012, 27 : S369 - S369
  • [33] Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS
    Hailee Rogers
    Jeanelle Ariza
    Angela Monterrubio
    Paul Hagerman
    Verónica Martínez-Cerdeño
    The Cerebellum, 2016, 15 : 641 - 644
  • [34] Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia
    Loreto Martorell
    Mireia Tondo
    Ferrán Garcia-Fructuoso
    Montserrat Naudo
    Cayetano Alegre
    Josep Gamez
    Jordi Genovés
    Pilar Poo
    Clinical Rheumatology, 2012, 31 : 1611 - 1615
  • [35] Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia
    Martorell, Loreto
    Tondo, Mireia
    Garcia-Fructuoso, Ferran
    Naudo, Montserrat
    Alegre, Cayetano
    Gamez, Josep
    Genoves, Jordi
    Poo, Pilar
    CLINICAL RHEUMATOLOGY, 2012, 31 (11) : 1611 - 1615
  • [36] Unraveling the Missing Heritability in Late-Onset Cerebellar Ataxia
    Bonnet, Celine
    MOVEMENT DISORDERS, 2023, 38 (06) : 957 - 958
  • [37] Cerebellar Autoantibodies in sporadic late-onset spinocerebellar ataxia
    van de Warrenburg, BPC
    Verbeek, MM
    Otte-Holler, I
    Smitt, PAES
    Kremer, BPH
    NEUROLOGY, 2004, 62 (07) : A47 - A48
  • [38] Antineuronal antibodies in sporadic late-onset cerebellar ataxia
    K. Bürk
    M. Wick
    G. Roth
    P. Decker
    R. Voltz
    Journal of Neurology, 2010, 257 : 59 - 62
  • [39] LATE-ONSET FAMILIAL PERIODIC CEREBELLAR-ATAXIA
    POZA, JJ
    MASSO, JFM
    AMATO, E
    MOVEMENT DISORDERS, 1995, 10 (02) : 224 - 225
  • [40] Antineuronal antibodies in sporadic late-onset cerebellar ataxia
    Buerk, K.
    Wick, M.
    Roth, G.
    Decker, P.
    Voltz, R.
    JOURNAL OF NEUROLOGY, 2010, 257 (01) : 59 - 62
12345