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    Results: 1 to 20 of 41

    1.

    Diversity of ARSACS mutations in French-Canadians.

    Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.

    Can J Neurol Sci. 2013 Jan;40(1):61-6.

    PMID:
    23250129
    [PubMed - indexed for MEDLINE]
    2.

    The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.

    Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM.

    J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3. No abstract available.

    PMID:
    23123642
    [PubMed - indexed for MEDLINE]
    3.

    Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

    Garcia-Martin E, Pablo LE, Gazulla J, Polo V, Ferreras A, Larrosa JM.

    Br J Ophthalmol. 2013 Feb;97(2):238-41. doi: 10.1136/bjophthalmol-2012-302309. Epub 2012 Oct 17. No abstract available.

    PMID:
    23077228
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

    Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N.

    Intern Med. 2012;51(16):2221-6. Epub 2012 Aug 15.

    PMID:
    22892508
    [PubMed - indexed for MEDLINE]
    Free Article
    5.

    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;20(1):138-46. doi: 10.1111/j.1468-1331.2012.03815.x. Epub 2012 Jul 21.

    PMID:
    22816526
    [PubMed - indexed for MEDLINE]
    6.

    Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

    Verhoeven WM, Egger JI, Ahmed AI, Kremer BP, Vermeer S, van de Warrenburg BP.

    Psychopathology. 2012;45(3):193-9. doi: 10.1159/000331319. Epub 2012 Mar 22.

    PMID:
    22441213
    [PubMed - indexed for MEDLINE]
    7.

    Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

    Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS.

    Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17.

    PMID:
    22307627
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.

    Pablo LE, Garcia-Martin E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marin MA.

    Mol Vis. 2011;17:1871-6. Epub 2011 Jul 13.

    PMID:
    21850161
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Other autosomal recessive and childhood ataxias.

    De Michele G, Filla A.

    Handb Clin Neurol. 2012;103:343-57. doi: 10.1016/B978-0-444-51892-7.00021-8. Review.

    PMID:
    21827899
    [PubMed - indexed for MEDLINE]
    10.

    Is the ataxia of Charlevoix-Saguenay a developmental disease?

    Gazulla J, Vela AC, Marín MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintoré M, Berciano J.

    Med Hypotheses. 2011 Sep;77(3):347-52. doi: 10.1016/j.mehy.2011.05.011. Epub 2011 Jun 12.

    PMID:
    21665375
    [PubMed - indexed for MEDLINE]
    11.

    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.

    Pedroso JL, Braga-Neto P, Abrahão A, Rivero RL, Abdalla C, Abdala N, Barsottini OG.

    Arq Neuropsiquiatr. 2011;69(2B):288-91.

    PMID:
    21625752
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

    Desserre J, Devos D, Sautière BG, Debruyne P, Santorelli FM, Vuillaume I, Defoort-Dhellemmes S.

    Cerebellum. 2011 Dec;10(4):758-62. doi: 10.1007/s12311-011-0286-x.

    PMID:
    21597885
    [PubMed - indexed for MEDLINE]
    13.

    Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

    Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K.

    J Biol Chem. 2011 Jun 10;286(23):20407-12. doi: 10.1074/jbc.M111.232884. Epub 2011 Apr 20.

    PMID:
    21507954
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

    Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.

    Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30. Review.

    PMID:
    21450511
    [PubMed - indexed for MEDLINE]
    15.

    Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

    Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C.

    Eur J Neurol. 2011 Sep;18(9):1187-90. doi: 10.1111/j.1468-1331.2010.03335.x. Epub 2011 Jan 25.

    PMID:
    21410841
    [PubMed - indexed for MEDLINE]
    16.

    Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec.

    Gerwig M, Krüger S, Kreuz FR, Kreis S, Gizewski ER, Timmann D.

    Neurology. 2010 Dec 7;75(23):2133. doi: 10.1212/WNL.0b013e318200d7f8. No abstract available.

    PMID:
    21135390
    [PubMed - indexed for MEDLINE]
    17.

    Mutations in SACS cause atypical and late-onset forms of ARSACS.

    Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P.

    Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c.

    PMID:
    20876471
    [PubMed - indexed for MEDLINE]
    18.

    Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

    Anesi L, de Gemmis P, Pandolfo M, Hladnik U.

    J Mol Neurosci. 2011 Mar;43(3):346-9. doi: 10.1007/s12031-010-9448-4. Epub 2010 Sep 18.

    PMID:
    20852969
    [PubMed - indexed for MEDLINE]
    19.

    Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

    H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M.

    J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27.

    PMID:
    20798953
    [PubMed - indexed for MEDLINE]
    20.

    A novel SACS gene mutation in a Tunisian family.

    Bouhlal Y, El Euch-Fayeche G, Hentati F, Amouri R.

    J Mol Neurosci. 2009 Nov;39(3):333-6. doi: 10.1007/s12031-009-9212-9. Epub 2009 Jun 16.

    PMID:
    19529988
    [PubMed - indexed for MEDLINE]

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