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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

183 related items for PubMed ID: 6886703

  • 21.
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  • 23. Hereditary cerebellar atrophy (Holmes type) with optic atrophy: a clinico-pathological study of four generations in a family.
    Budka H, Seemann D, Danielczyk W.
    Arch Psychiatr Nervenkr (1970); 1979 Apr 12; 226(4):311-8. PubMed ID: 454144
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  • 24.
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  • 25. Autosomal recessive non-progressive ataxia with an early childhood debut.
    Kvistad PH, Dahl A, Skre H.
    Acta Neurol Scand; 1985 Apr 12; 71(4):295-302. PubMed ID: 4003033
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  • 31. A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Okawa S, Sugawara M, Watanabe S, Imota T, Toyoshima I.
    J Neurol Neurosurg Psychiatry; 2006 Feb 12; 77(2):280-2. PubMed ID: 16421146
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  • 33. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
    Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK, Genomics England Research Consortium, Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H.
    Genet Med; 2022 Oct 12; 24(10):2079-2090. PubMed ID: 35986737
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  • 34. [Congenital autosomal-recessive familial spastic paraplegia].
    Badalian LO, Umakhanov RU, Temin PA, Arhipov BA, Bulaeva NV, Sakidebirov GM.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1991 Oct 12; 91(8):97-9. PubMed ID: 1661531
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  • 35. Distribution of cerebello-olivary degeneration in idiopathic late cortical cerebellar atrophy: clinicopathological study of four autopsy cases.
    Ota S, Tsuchiya K, Anno M, Niizato K, Akiyama H.
    Neuropathology; 2008 Feb 12; 28(1):43-50. PubMed ID: 18181834
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  • 36. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
    Gücüyener K, Ozgül K, Paternotte C, Erdem H, Prud'homme JF, Ozgüç M, Topaloğlu H.
    Neuropediatrics; 2001 Jun 12; 32(3):142-6. PubMed ID: 11521210
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  • 37. [Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].
    Ben Hamida M, Chaabouni H, Madani S, Boussen S, Samoud S, Letaief F, Mrabet A, Hentati F, Miladi N.
    J Genet Hum; 1986 Aug 12; 34(3-4):267-74. PubMed ID: 3760830
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  • 38. Joseph disease: an autosomal dominant motor system degeneration.
    Rosenberg RN.
    Adv Neurol; 1984 Aug 12; 41():179-93. PubMed ID: 6388271
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  • 39. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
    Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.
    Eur J Hum Genet; 2016 Jul 12; 24(7):1016-21. PubMed ID: 26626314
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  • 40. Recessively inherited 'pure' spastic paraplegia: case study.
    de Coo IF, Gabreëls FJ, Renier WO, Colon EJ, ter Haar BG.
    Clin Neurol Neurosurg; 1982 Jul 12; 84(4):247-53. PubMed ID: 6301736
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