BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 25349751)

  • 1. Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.
    Piña-Aguilar RE; Vera-Loaiza A; Chacón-Camacho OF; Zenteno JC; Nuñez-Orozco L; Santillán-Hernández Y
    Case Rep Neurol Med; 2014; 2014():785890. PubMed ID: 25349751
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. [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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.
    Dweikat I; Thaher O; Abosleem A; Zeer A; Mokh AA
    BMC Med Genomics; 2021 Sep; 14(1):228. PubMed ID: 34535129
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. [Niemann-Pick type C disease: clinical presentations in pediatric patients].
    Héron B; Ogier H
    Arch Pediatr; 2010 Jun; 17 Suppl 2():S45-9. PubMed ID: 20620895
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
    Cervera-Gaviria M; Alcántara-Ortigoza MA; González-Del Angel A; Moyers-Pérez P; Legorreta-Ramírez BG; Barrera-Carmona N; Cervera-Gaviria J
    BMC Neurol; 2016 Aug; 16(1):147. PubMed ID: 27549128
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.
    Pedroso JL; Fusão EF; Ladeia-Frota C; Arita JH; Barsottini OG; Masruha MR; Vilanova LC
    Neurology; 2012 Nov; 79(22):e189. PubMed ID: 23183285
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
    Kresojević N; Dobričić V; Lukić MJ; Tomić A; Petrović I; Dragašević N; Perović I; Marjanović A; Branković M; Janković M; Novaković I; Svetel M; Kostić VS
    J Neurol; 2022 Jun; 269(6):3167-3174. PubMed ID: 34993563
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genome sequencing in a case of Niemann-Pick type C.
    Dougherty M; Lazar J; Klein JC; Diaz K; Gobillot T; Grunblatt E; Hasle N; Lawrence D; Maurano M; Nelson M; Olson G; Srivatsan S; Shendure J; Keene CD; Bird T; Horwitz MS; Marshall DA
    Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001222. PubMed ID: 27900365
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].
    Grau AJ; Weisbrod M; Hund E; Harzer K
    Nervenarzt; 2003 Oct; 74(10):900-5. PubMed ID: 14551697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.
    Parihar J; Dash D; Aggarwal B; Kabra M; Rajan R; Vibha D; Singh RK; Bhatia R; Gupta N; Tripathi M
    Can J Neurol Sci; 2022 Nov; 49(6):804-808. PubMed ID: 34526163
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.
    Wu M; Ceponiene R; Bayram E; Litvan I
    Mov Disord Clin Pract; 2020 Nov; 7(8):961-964. PubMed ID: 33163568
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
    Millat G; Chikh K; Naureckiene S; Sleat DE; Fensom AH; Higaki K; Elleder M; Lobel P; Vanier MT
    Am J Hum Genet; 2001 Nov; 69(5):1013-21. PubMed ID: 11567215
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.