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Journal Abstract Search

1335 related items for PubMed ID: 25238906

  • 1. [Niemann-Pick type C disease and psychosis: Two siblings].
    Maubert A, Hanon C, Metton JP.
    Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
    [Abstract] [Full Text] [Related]

  • 2. [Adult onset Niemann-Pick type C disease and psychosis: literature review].
    Maubert A, Hanon C, Metton JP.
    Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063
    [Abstract] [Full Text] [Related]

  • 3. [Psychiatric disorders in adult form of Niemann-Pick disease type C].
    Maubert A, Hanon C, Sedel F.
    Encephale; 2016 Jun; 42(3):208-13. PubMed ID: 26727648
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
    Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y.
    BMC Neurol; 2018 Aug 17; 18(1):117. PubMed ID: 30119649
    [Abstract] [Full Text] [Related]

  • 5. The adult form of Niemann-Pick disease type C.
    Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.
    Brain; 2007 Jan 17; 130(Pt 1):120-33. PubMed ID: 17003072
    [Abstract] [Full Text] [Related]

  • 6. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
    Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E.
    Mol Genet Metab; 2013 Jan 17; 110(1-2):139-44. PubMed ID: 23791309
    [Abstract] [Full Text] [Related]

  • 7. Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.
    Lee SY, Lee HJ, Kim SH, Jeong YJ, Jin HK, Bae JS, Cheon SM, Kim JW.
    J Korean Med Sci; 2016 Jul 17; 31(7):1168-72. PubMed ID: 27366019
    [Abstract] [Full Text] [Related]

  • 8. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
    Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.
    Hum Mol Genet; 2013 Nov 01; 22(21):4349-56. PubMed ID: 23773996
    [Abstract] [Full Text] [Related]

  • 9. Role of Niemann-Pick Type C Disease Mutations in Dementia.
    Cupidi C, Frangipane F, Gallo M, Clodomiro A, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SA, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Zampieri S, Romanello M, Dardis A, Maletta RG, Bruni AC.
    J Alzheimers Dis; 2017 Nov 01; 55(3):1249-1259. PubMed ID: 27792009
    [Abstract] [Full Text] [Related]

  • 10. Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.
    Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Nanba E, Hosokawa M, Enokido Y, Kouchi Z, Yoshida F, Shimada A.
    Neuropathology; 2014 Feb 01; 34(1):49-57. PubMed ID: 23711246
    [Abstract] [Full Text] [Related]

  • 11. Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
    Bountouvi E, Papadopoulou A, Vanier MT, Nyktari G, Kanellakis S, Michelakakis H, Dinopoulos A.
    BMC Med Genet; 2017 May 04; 18(1):51. PubMed ID: 28472934
    [Abstract] [Full Text] [Related]

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  • 14. Niemann-Pick disease type C1 presenting with psychosis in an adolescent male.
    Sandu S, Jackowski-Dohrmann S, Ladner A, Haberhausen M, Bachmann C.
    Eur Child Adolesc Psychiatry; 2009 Sep 04; 18(9):583-5. PubMed ID: 19267177
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  • 16. [Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].
    Ren SC, Tian ZX, Deng YX, Wang YJ, Wu XJ, Zhang YZ, Gao BQ.
    Zhonghua Yi Xue Za Zhi; 2018 Jan 23; 98(4):284-288. PubMed ID: 29397615
    [Abstract] [Full Text] [Related]

  • 17. Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
    Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P.
    Orphanet J Rare Dis; 2014 Sep 19; 9():140. PubMed ID: 25236789
    [Abstract] [Full Text] [Related]

  • 18. Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.
    Degtyareva AV, Mikhailova SV, Zakharova EY, Tumanova EL, Puchkova AA.
    J Med Case Rep; 2016 Jun 01; 10(1):143. PubMed ID: 27250337
    [Abstract] [Full Text] [Related]

  • 19. Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
    Völkner C, Liedtke M, Untucht R, Hermann A, Frech MJ.
    Int J Mol Sci; 2021 Nov 10; 22(22):. PubMed ID: 34830064
    [Abstract] [Full Text] [Related]

  • 20. Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
    Chamova T, Kirov A, Guergueltcheva V, Todorov T, Bojinova V, Zhelyazkova S, Samuel J, Radionova M, Sarafov S, Cherninkova S, Krastev S, Todorova A, Tournev I.
    Eur Neurol; 2016 Nov 10; 75(3-4):113-23. PubMed ID: 26910362
    [Abstract] [Full Text] [Related]

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