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Journal Abstract Search

308 related items for PubMed ID: 17383133

  • 21. Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
    Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.
    Neuropediatrics; 2007 Jun; 38(3):143-7. PubMed ID: 17985264
    [Abstract] [Full Text] [Related]

  • 22. TRH therapy in a patient with juvenile Alexander disease.
    Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M.
    Brain Dev; 2006 Nov; 28(10):663-7. PubMed ID: 16774812
    [Abstract] [Full Text] [Related]

  • 23. Alexander's disease in a neurologically normal child: a case report.
    Guthrie SO, Burton EM, Knowles P, Marshall R.
    Pediatr Radiol; 2003 Jan; 33(1):47-9. PubMed ID: 12497239
    [Abstract] [Full Text] [Related]

  • 24. Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype.
    Moser HW.
    Ann Neurol; 2005 Mar; 57(3):307-8. PubMed ID: 15732119
    [No Abstract] [Full Text] [Related]

  • 25. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
    Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.
    Brain; 2008 Sep; 131(Pt 9):2321-31. PubMed ID: 18684770
    [Abstract] [Full Text] [Related]

  • 26. Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.
    Yoshida T, Sasayama H, Mizuta I, Okamoto Y, Yoshida M, Riku Y, Hayashi Y, Yonezu T, Takata Y, Ohnari K, Okuda S, Aiba I, Nakagawa M.
    Acta Neurol Scand; 2011 Aug; 124(2):104-8. PubMed ID: 20849398
    [Abstract] [Full Text] [Related]

  • 27. Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.
    Kyllerman M, Rosengren L, Wiklund LM, Holmberg E.
    Neuropediatrics; 2005 Oct; 36(5):319-23. PubMed ID: 16217707
    [Abstract] [Full Text] [Related]

  • 28. Early cerebral images of Alexander disease: report of one case.
    Huang YT, Chen CC, Chiu PC, Lai PH, Hsieh KS.
    Acta Paediatr Taiwan; 2004 Oct; 45(1):52-5. PubMed ID: 15264709
    [Abstract] [Full Text] [Related]

  • 29. Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.
    Shiihara T, Sawaishi Y, Adachi M, Kato M, Hayasaka K.
    J Neurol Sci; 2004 Oct 15; 225(1-2):125-7. PubMed ID: 15465095
    [Abstract] [Full Text] [Related]

  • 30. Alexander disease.
    Zafeiriou DI, Dragoumi P, Vargiami E.
    J Pediatr; 2013 Mar 15; 162(3):648. PubMed ID: 23149175
    [No Abstract] [Full Text] [Related]

  • 31. Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
    Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.
    Acta Neuropathol; 2007 Nov 15; 114(5):543-5. PubMed ID: 17805552
    [No Abstract] [Full Text] [Related]

  • 32. Alexander disease with mild dorsal brainstem atrophy and infantile spasms.
    Torisu H, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, Sawaishi Y, Hara T.
    Brain Dev; 2013 May 15; 35(5):441-4. PubMed ID: 22818990
    [Abstract] [Full Text] [Related]

  • 33. Adult Alexander's disease without leukoencephalopathy.
    Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C, Matsubara Y, Mascalchi M.
    Ann Neurol; 2005 Nov 15; 58(5):813-4. PubMed ID: 16240361
    [No Abstract] [Full Text] [Related]

  • 34. Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.
    Meins M, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.
    Neuropediatrics; 2002 Aug 15; 33(4):194-8. PubMed ID: 12368989
    [Abstract] [Full Text] [Related]

  • 35. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
    van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS.
    Neurology; 2006 Feb 28; 66(4):494-8. PubMed ID: 16505300
    [Abstract] [Full Text] [Related]

  • 36. A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.
    Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, Kim DK, Ki CS, Kim JW.
    J Korean Med Sci; 2006 Oct 28; 21(5):954-7. PubMed ID: 17043438
    [Abstract] [Full Text] [Related]

  • 37. Acute onset of adult Alexander disease.
    Schmidt H, Kretzschmar B, Lingor P, Pauli S, Schramm P, Otto M, Ohlenbusch A, Brockmann K.
    J Neurol Sci; 2013 Aug 15; 331(1-2):152-4. PubMed ID: 23706596
    [Abstract] [Full Text] [Related]

  • 38. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.
    Bassuk AG, Joshi A, Burton BK, Larsen MB, Burrowes DM, Stack C.
    Neurology; 2003 Oct 14; 61(7):1014-5. PubMed ID: 14557587
    [No Abstract] [Full Text] [Related]

  • 39. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.
    Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L.
    Eur J Paediatr Neurol; 2014 Jul 14; 18(4):495-501. PubMed ID: 24742911
    [Abstract] [Full Text] [Related]

  • 40. Alexander's disease: clinical, pathologic, and genetic features.
    Johnson AB, Brenner M.
    J Child Neurol; 2003 Sep 14; 18(9):625-32. PubMed ID: 14572141
    [Abstract] [Full Text] [Related]

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