BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

883 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [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; 18(1):117. PubMed ID: 30119649
    [TBL] [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; 130(Pt 1):120-33. PubMed ID: 17003072
    [TBL] [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; 110(1-2):139-44. PubMed ID: 23791309
    [TBL] [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; 31(7):1168-72. PubMed ID: 27366019
    [TBL] [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; 22(21):4349-56. PubMed ID: 23773996
    [TBL] [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; 55(3):1249-1259. PubMed ID: 27792009
    [TBL] [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; 34(1):49-57. PubMed ID: 23711246
    [TBL] [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; 18(1):51. PubMed ID: 28472934
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
    Cuisset JM; Sukno S; Trauffler A; Latour P; Dobbelaere D; Michaud L; Vallée L
    J Med Case Rep; 2016 Sep; 10(1):241. PubMed ID: 27599728
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome].
    Hamatani M; Jingami N; Uemura K; Nakasone N; Kinoshita H; Yamakado H; Ninomiya H; Takahashi R
    Rinsho Shinkeigaku; 2016 Jun; 56(6):424-9. PubMed ID: 27181747
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 18(9):583-5. PubMed ID: 19267177
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
    Xiong H; Higaki K; Wei CJ; Bao XH; Zhang YH; Fu N; Qin J; Adachi K; Kumura Y; Ninomiya H; Nanba E; Wu XR
    Gene; 2012 May; 498(2):332-5. PubMed ID: 22326530
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 98(4):284-288. PubMed ID: 29397615
    [No 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; 9():140. PubMed ID: 25236789
    [TBL] [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; 10(1):143. PubMed ID: 27250337
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 75(3-4):113-23. PubMed ID: 26910362
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis.
    Kumagai T; Terashima H; Uchida H; Fukuda A; Kasahara M; Kosuga M; Okuyama T; Tsunoda T; Inui A; Fujisawa T; Narita A; Eto Y; Kubota M
    Brain Dev; 2019 May; 41(5):460-464. PubMed ID: 30737051
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 45.