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Journal Abstract Search

226 related items for PubMed ID: 27871429

  • 21. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
    Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I.
    Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
    [Abstract] [Full Text] [Related]

  • 22. 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. PubMed ID: 23250129
    [Abstract] [Full Text] [Related]

  • 23. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F.
    Arch Neurol; 2003 Jul; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 24. [Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review].
    Rudenskaya GE, Kadnikova VA, Ryzhkova OP.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2020 Jul; 120(2):85-91. PubMed ID: 32307416
    [Abstract] [Full Text] [Related]

  • 25. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.
    Ann Neurol; 2015 Dec; 78(6):871-86. PubMed ID: 26288984
    [Abstract] [Full Text] [Related]

  • 26. [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].
    Anheim M, Chaigne D, Fleury M, Santorelli FM, De Sèze J, Durr A, Brice A, Koenig M, Tranchant C.
    Rev Neurol (Paris); 2008 Apr; 164(4):363-8. PubMed ID: 18439928
    [Abstract] [Full Text] [Related]

  • 27. A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
    Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G.
    J Med Genet; 2020 Dec; 57(12):835-842. PubMed ID: 32179706
    [Abstract] [Full Text] [Related]

  • 28. Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
    Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S, Knierim E.
    J Med Genet; 2015 Sep; 52(9):607-11. PubMed ID: 26048982
    [Abstract] [Full Text] [Related]

  • 29. 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. PubMed ID: 21665375
    [Abstract] [Full Text] [Related]

  • 30. [Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].
    Zhang Q, Li H, Chen C, Luan Z, Xu X, Tang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar 10; 36(3):217-220. PubMed ID: 30835349
    [Abstract] [Full Text] [Related]

  • 31. [Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
    Li S, Chen Y, Yuan X, Wei Q, Ou R, Gu X, Shang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug 10; 35(4):507-510. PubMed ID: 30098244
    [Abstract] [Full Text] [Related]

  • 32. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
    Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J.
    Hum Genet; 2018 Dec 10; 137(11-12):911-919. PubMed ID: 30460542
    [Abstract] [Full Text] [Related]

  • 33. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
    Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.
    Eur J Med Genet; 2019 Dec 10; 62(12):103605. PubMed ID: 30572172
    [Abstract] [Full Text] [Related]

  • 34. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
    Criscuolo C, Saccà F, De Michele G, Mancini P, Combarros O, Infante J, Garcia A, Banfi S, Filla A, Berciano J.
    Mov Disord; 2005 Oct 10; 20(10):1358-61. PubMed ID: 16007637
    [Abstract] [Full Text] [Related]

  • 35. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Sánchez MG, Pérez JE, Pérez MR, Redondo AG.
    J Neurol Sci; 2015 Nov 15; 358(1-2):475-6. PubMed ID: 26344561
    [No Abstract] [Full Text] [Related]

  • 36. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
    Narayanan V, Rice SG, Olfers SS, Sivakumar K.
    J Child Neurol; 2011 Dec 15; 26(12):1585-9. PubMed ID: 21745802
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