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Journal Abstract Search

329 related items for PubMed ID: 11521210

  • 21. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
    Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM.
    Neurology; 2004 Jan 13; 62(1):103-6. PubMed ID: 14718707
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  • 22. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
    Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.
    Eur J Neurol; 2013 Jan 13; 20(1):138-46. PubMed ID: 22816526
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  • 23. Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC.
    J Neuroophthalmol; 2014 Dec 13; 34(4):369-71. PubMed ID: 25237835
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  • 24. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.
    Neurol Neurochir Pol; 2017 Dec 13; 51(6):481-485. PubMed ID: 28843771
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  • 25. Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.
    Terracciano A, Foulds NC, Ditchfield A, Bunyan DJ, Crolla JA, Huang S, Santorelli FM, Hammans SR.
    Neurology; 2010 Apr 06; 74(14):1152-4. PubMed ID: 20368637
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  • 26. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
    Richter AM, Ozgul RK, Poisson VC, Topaloglu H.
    Neurogenetics; 2004 Sep 06; 5(3):165-70. PubMed ID: 15156359
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  • 27. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
    Hara K, Onodera O, Endo M, Kondo H, Shiota H, Miki K, Tanimoto N, Kimura T, Nishizawa M.
    Mov Disord; 2005 Mar 06; 20(3):380-2. PubMed ID: 15486997
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  • 31. Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.
    Brain; 2018 Apr 01; 141(4):989-999. PubMed ID: 29538656
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  • 33. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
    Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F.
    Neurology; 2000 Apr 11; 54(7):1408-14. PubMed ID: 10751248
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  • 37. [Clinical and molecular genetic analysis of 4 Swiss families with the pure form of hereditary spastic spinal paralysis].
    von Fellenberg J, Paternotte C, Prud'homme JF, Weissenbach J, Hazan J, Burgunder JM.
    Schweiz Med Wochenschr; 1998 Jun 27; 128(26):1043-50. PubMed ID: 9700778
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  • 38. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
    Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A.
    Nat Genet; 2000 Feb 27; 24(2):120-5. PubMed ID: 10655055
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