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Journal Abstract Search

602 related items for PubMed ID: 16550933

  • 1. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.
    Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F.
    Acta Myol; 2005 Oct; 24(2):155-61. PubMed ID: 16550933
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
    Hamza W, Ali Pacha L, Hamadouche T, Muller J, Drouot N, Ferrat F, Makri S, Chaouch M, Tazir M, Koenig M, Benhassine T.
    BMC Med Genet; 2015 Jun 12; 16():36. PubMed ID: 26068213
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive cerebellar ataxias.
    Palau F, Espinós C.
    Orphanet J Rare Dis; 2006 Nov 17; 1():47. PubMed ID: 17112370
    [Abstract] [Full Text] [Related]

  • 5. 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 17; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 6. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
    Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M.
    Neurogenetics; 2010 Feb 17; 11(1):1-12. PubMed ID: 19440741
    [Abstract] [Full Text] [Related]

  • 7. Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families.
    Marzouki N, Belal S, Benhamida C, Benlemlih M, Hentati F.
    Clin Genet; 2001 Apr 17; 59(4):257-62. PubMed ID: 11298681
    [Abstract] [Full Text] [Related]

  • 8. [Molecular genetics and familial ataxia].
    Koenig M, Sirugo G, Duclos F.
    Rev Neurol (Paris); 1993 Apr 17; 149(11):698-702. PubMed ID: 8091082
    [Abstract] [Full Text] [Related]

  • 9. Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed.
    Pedroso JL, Braga-Neto P, Ricarte IF, Albuquerque MV, Barsottini OG.
    Arq Neuropsiquiatr; 2013 Jun 17; 71(6):345-8. PubMed ID: 23828538
    [Abstract] [Full Text] [Related]

  • 10. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.
    Polo JM, Calleja J, Combarros O, Berciano J.
    Brain; 1991 Apr 17; 114 ( Pt 2)():855-66. PubMed ID: 2043954
    [Abstract] [Full Text] [Related]

  • 11. Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations.
    Chakravarty A, Mukherjee SC.
    Neurol India; 2003 Jun 17; 51(2):227-34. PubMed ID: 14571010
    [Abstract] [Full Text] [Related]

  • 12. Other autosomal recessive and childhood ataxias.
    De Michele G, Filla A.
    Handb Clin Neurol; 2012 Jun 17; 103():343-57. PubMed ID: 21827899
    [Abstract] [Full Text] [Related]

  • 13. Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.
    Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB.
    Am J Med Genet; 1996 Sep 06; 64(4):594-601. PubMed ID: 8870928
    [Abstract] [Full Text] [Related]

  • 14. [Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].
    Espinós-Armero C, González-Cabo P, Palau-Martínez F.
    Rev Neurol; 1996 Sep 06; 41(7):409-22. PubMed ID: 16193447
    [Abstract] [Full Text] [Related]

  • 15. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
    Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, Koenig M.
    Eur J Hum Genet; 2003 Oct 06; 11(10):770-8. PubMed ID: 14512967
    [Abstract] [Full Text] [Related]

  • 16. Rare forms of autosomal recessive neurodegenerative ataxia.
    Koenig M.
    Semin Pediatr Neurol; 2003 Sep 06; 10(3):183-92. PubMed ID: 14653406
    [Abstract] [Full Text] [Related]

  • 17. Prevalence and pattern of spinocerebellar degenerations in northeastern Libya.
    Sridharan R, Radhakrishnan K, Ashok PP, Mousa ME.
    Brain; 1985 Dec 06; 108 ( Pt 4)():831-43. PubMed ID: 4075075
    [Abstract] [Full Text] [Related]

  • 18. Ataxias with autosomal, X-chromosomal or maternal inheritance.
    Finsterer J.
    Can J Neurol Sci; 2009 Jul 06; 36(4):409-28. PubMed ID: 19650351
    [Abstract] [Full Text] [Related]

  • 19. A kindred with cerebellar ataxia and thermoanalgesia.
    Genis D, Ferrer I, Solé JV, Corral J, Volpini V, San Nicolás H, Gich J, Ramió-Torrentà L, Ferrándiz M, Puig J, Márquez F.
    J Neurol Neurosurg Psychiatry; 2009 May 06; 80(5):518-23. PubMed ID: 18710877
    [Abstract] [Full Text] [Related]

  • 20. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan 06; 78(1):13-22. PubMed ID: 24252062
    [Abstract] [Full Text] [Related]

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