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Journal Abstract Search

282 related items for PubMed ID: 17977780

  • 1. Familial Behr syndrome-like phenotype with autosomal dominant inheritance.
    Felicio AC, Godeiro-Junior C, Alberto LG, Pinto AP, Sallum JM, Teive HG, Barsottini OG.
    Parkinsonism Relat Disord; 2008; 14(4):370-2. PubMed ID: 17977780
    [Abstract] [Full Text] [Related]

  • 2. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
    Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH.
    Am J Med Genet; 2002 May 08; 114(4):450-7. PubMed ID: 11992570
    [Abstract] [Full Text] [Related]

  • 3.
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  • 4. Behr syndrome variant with tremor treated by VIM stimulation.
    Schramm P, Scheihing M, Rasche D, Tronnier VM.
    Acta Neurochir (Wien); 2005 Jun 08; 147(6):679-83; discussion 683. PubMed ID: 15770348
    [Abstract] [Full Text] [Related]

  • 5. [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 08; 164(4):363-8. PubMed ID: 18439928
    [Abstract] [Full Text] [Related]

  • 6. Molecular genetic basis of primary inherited optic neuropathies.
    Votruba M.
    Eye (Lond); 2004 Nov 08; 18(11):1126-32. PubMed ID: 15534598
    [Abstract] [Full Text] [Related]

  • 7. [Dominant infantile optic nerve atrophy].
    Szedélyová L, Vaisová Z.
    Cesk Oftalmol; 1989 Nov 08; 45(6):440-4. PubMed ID: 2605661
    [Abstract] [Full Text] [Related]

  • 8. [A Japanese family with probably autosomal dominant adult-onset leukodystrophy].
    Asahara H, Yoshimura T, Sada S, Furuya H, Kobayashi T.
    Rinsho Shinkeigaku; 1996 Aug 08; 36(8):968-72. PubMed ID: 8958750
    [Abstract] [Full Text] [Related]

  • 9. Hereditary optic neuropathies.
    Newman NJ, Biousse V.
    Eye (Lond); 2004 Nov 08; 18(11):1144-60. PubMed ID: 15534600
    [Abstract] [Full Text] [Related]

  • 10.
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  • 11. Dominant form of vanishing white matter-like leukoencephalopathy.
    Labauge P, Fogli A, Castelnovo G, Le Bayon A, Horzinski L, Nicoli F, Cozzone P, Pagès M, Briere C, Marty-Double C, Delhaume O, Gelot A, Boespflug-Tanguy O, Rodriguez D.
    Ann Neurol; 2005 Oct 08; 58(4):634-9. PubMed ID: 16047349
    [Abstract] [Full Text] [Related]

  • 12. A hereditary moyamoya syndrome with multisystemic manifestations.
    Hervé D, Touraine P, Verloes A, Miskinyte S, Krivosic V, Logeart D, Alili N, Laredo JD, Gaudric A, Houdart E, Metzger JP, Tournier-Lasserve E, Woimant F.
    Neurology; 2010 Jul 20; 75(3):259-64. PubMed ID: 20644152
    [Abstract] [Full Text] [Related]

  • 13. Optic atrophy, hearing loss, and peripheral neuropathy.
    Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM.
    Am J Med Genet; 1989 May 20; 33(1):61-5. PubMed ID: 2665489
    [Abstract] [Full Text] [Related]

  • 14. MRI abnormalities in Behr syndrome.
    Marzan KA, Barron TF.
    Pediatr Neurol; 1994 May 20; 10(3):247-8. PubMed ID: 8060430
    [Abstract] [Full Text] [Related]

  • 15. A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.
    Higuchi Y, Hongou M, Ozawa K, Kokawa H, Masaki M.
    Pediatr Neurol; 2005 May 20; 32(5):358-60. PubMed ID: 15866440
    [Abstract] [Full Text] [Related]

  • 16. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.
    Hammar B, Björck E, Lagerstedt K, Dellby A, Fagerholm P.
    Acta Ophthalmol; 2008 Nov 20; 86(7):758-63. PubMed ID: 18778339
    [Abstract] [Full Text] [Related]

  • 17. [Hereditary optic atrophies].
    Francois J.
    J Genet Hum; 1976 Sep 20; 24(3):183-200. PubMed ID: 1003172
    [Abstract] [Full Text] [Related]

  • 18. Behr syndrome with homozygous C19ORF12 mutation.
    Kleffner I, Wessling C, Gess B, Korsukewitz C, Allkemper T, Schirmacher A, Young P, Senderek J, Husstedt IW.
    J Neurol Sci; 2015 Oct 15; 357(1-2):115-8. PubMed ID: 26187298
    [Abstract] [Full Text] [Related]

  • 19. [Familial episodic ataxia type 2. Clinical and genetic study of one family].
    Suárez-Cuervo A, Salas-Puig J, Alvarez V, Coto E, Fernández JM, Lahoz CH.
    Neurologia; 1998 Oct 15; 13(8):382-7. PubMed ID: 9859670
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant childhood onset slowly progressive leukodystrophy--a Japanese family with spastic paraparesis, ataxia, mental deterioration, and skeletal abnormality.
    Nomoto N, Iwasaki Y, Arasaki K, Fujioka T, Kurihara T, Wakata N.
    J Neurol Sci; 2004 Jun 15; 221(1-2):35-9. PubMed ID: 15178211
    [Abstract] [Full Text] [Related]

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