Autosomal Recessive Spastic Ataxia of Charlovoix-Saguenay. A new pathogenic mutation

被引:0
|
作者
Flanigan, Moira
Safarpour, Yasaman [2 ]
Wiszniewski, Wojciech [1 ]
Chahin, Nizar
Safarpour, Delaram [3 ]
机构
[1] Oregon Hlth & Sci Univ, Mol & Med Genet, Portland, OR 97201 USA
[2] Univ Calif Irvine, Nephrol, Irvine, CA USA
[3] Oregon Hlth & Sci Univ, Parkinson Ctr, Portland, OR 97201 USA
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P1.8-014
引用
收藏
页数:2
相关论文
共 50 条
  • [1] AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
    BOUCHARD, JP
    BARBEAU, A
    BOUCHARD, R
    BOUCHARD, RW
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1978, 5 (01) : 61 - 69
  • [2] Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Bouchard, JP
    Richter, A
    Mathieu, J
    Brunet, D
    Hudson, TJ
    Morgan, K
    Melançon, SB
    NEUROMUSCULAR DISORDERS, 1998, 8 (07) : 474 - 479
  • [3] Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Takiyama, Yoshihisa
    NEUROPATHOLOGY, 2006, 26 (04) : 368 - 375
  • [4] Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Van Damme, Philip
    Demaerel, Philippe
    Spileers, Werner
    Robberecht, Wim
    NEUROLOGY, 2009, 72 (20) : 1790 - 1790
  • [5] A new family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
    Palmio, J.
    Penttila, S.
    Moilanen, J.
    Karppa, M.
    Udd, B.
    NEUROMUSCULAR DISORDERS, 2015, 25 : S223 - S223
  • [6] Autosomal recessive spastic ataxia of Charlevoix-Saguenay: An overview
    Bouhlal, Yosr
    Amouri, Rim
    El Euch-Fayeche, Ghada
    Hentati, Faycal
    PARKINSONISM & RELATED DISORDERS, 2011, 17 (06) : 418 - 422
  • [7] Novel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay
    Petrov, Igor
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 (06): : 963 - 965
  • [8] Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Shah, Christopher T.
    Ward, Tyson S.
    Matsumoto, Julie A.
    Shildkrot, Yevgeniy
    JOURNAL OF AAPOS, 2016, 20 (01): : 81 - 83
  • [9] Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
    Karuvath, Rosmi Hassan
    Patwari, Sriram
    Chadaga, Harsha
    RADIOLOGY, 2021, 300 (03) : 730 - 732
  • [10] New Practical Definitions for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
    Pilliod, Julie
    Moutton, Sebastien
    Lavie, Julie
    Maurat, Elise
    Hubert, Christophe
    Bellance, Nadege
    Anheim, Mathieu
    Forlani, Sylvie
    Mochel, Fanny
    N'Guyen, Karine
    Thauvin-Robinet, Christel
    Verny, Christophe
    Milea, Dan
    Lesca, Gaetan
    Koenig, Michel
    Rodriguez, Diana
    Houcinat, Nada
    Van-Gils, Julien
    Durand, Christelle M.
    Guichet, Agnes
    Barth, Magalie
    Bonneau, Dominique
    Convers, Philippe
    Maillart, Elisabeth
    Guyant-Marechal, Lucie
    Hannequin, Didier
    Fromager, Guillaume
    Afenjar, Alexandra
    Chantot-Bastaraud, Sandra
    Valence, Stephanie
    Charles, Perrine
    Berquin, Patrick
    Rooryck, Caroline
    Bouron, Julie
    Brice, Alexis
    Lacombe, Didier
    Rossignol, Rodrigue
    Stevanin, Giovanni
    Benard, Giovanni
    Burglen, Lydie
    Durr, Alexandra
    Goizet, Cyril
    Coupry, Isabelle
    ANNALS OF NEUROLOGY, 2015, 78 (06) : 871 - 886