180 related articles for article (PubMed ID: 34883004)
21. 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]
22. Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina.
Terada C; Mirarchi F; Marino R; Eiroa H; Berensztein E
Medicina (B Aires); 2022; 82(2):308-312. PubMed ID: 35417398
[TBL] [Abstract][Full Text] [Related]
23. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA; Cross JL; Iben J; Sanchez-Pulido L; Cougnoux A; Platt FM; Ory DS; Ponting CP; Bailey-Wilson JE; Biesecker LG; Porter FD
Genet Med; 2016 Jan; 18(1):41-8. PubMed ID: 25764212
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.
Park SW; Park JH; Moon HJ; Shin M; Moon JS; Ko JS
Korean J Gastroenterol; 2021 Oct; 78(4):240-244. PubMed ID: 34697279
[TBL] [Abstract][Full Text] [Related]
26. A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
Prabhu AV; Kang I; De Pace R; Wassif CA; Fujiwara H; Kell P; Jiang X; Ory DS; Bonifacino JS; Ward ME; Porter FD
BMC Biol; 2021 Oct; 19(1):218. PubMed ID: 34592985
[TBL] [Abstract][Full Text] [Related]
27. [Research advances in diagnosis and therapy of Niemann-Pick disease type C].
Ren SC; Gao BQ
Zhongguo Dang Dai Er Ke Za Zhi; 2015 May; 17(5):533-8. PubMed ID: 26014711
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Niemann-Pick type C disease: The atypical sphingolipidosis.
Newton J; Milstien S; Spiegel S
Adv Biol Regul; 2018 Dec; 70():82-88. PubMed ID: 30205942
[TBL] [Abstract][Full Text] [Related]
30. Treatment trials in Niemann-Pick type C disease.
Sitarska D; Tylki-Szymańska A; Ługowska A
Metab Brain Dis; 2021 Dec; 36(8):2215-2221. PubMed ID: 34596813
[TBL] [Abstract][Full Text] [Related]
31. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
Yang CC; Su YN; Chiou PC; Fietz MJ; Yu CL; Hwu WL; Lee MJ
J Neurol Neurosurg Psychiatry; 2005 Apr; 76(4):592-5. PubMed ID: 15774455
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. [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]
34. An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene.
Li R; Pradhan M; Xu M; Roeder A; Beers J; Zou J; Liu C; Porter FD; Zheng W
Stem Cell Res; 2020 Apr; 44():101737. PubMed ID: 32114296
[TBL] [Abstract][Full Text] [Related]
35. Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis; 2010 Jun; 5():16. PubMed ID: 20525256
[TBL] [Abstract][Full Text] [Related]
36. Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the
Liedtke M; Völkner C; Jürs AV; Peter F; Rabenstein M; Hermann A; Frech MJ
Int J Mol Sci; 2021 Apr; 22(8):. PubMed ID: 33924575
[TBL] [Abstract][Full Text] [Related]
37. The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.
Takamura A; Sakai N; Shinpoo M; Noguchi A; Takahashi T; Matsuda S; Yamamoto M; Narita A; Ohno K; Ohashi T; Ida H; Eto Y
Mol Genet Metab; 2013 Nov; 110(3):401-4. PubMed ID: 24001525
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
Topçu M; Aktas D; Öztoprak M; Mungan NÖ; Yuce A; Alikasifoglu M
Mol Diagn Ther; 2017 Dec; 21(6):643-651. PubMed ID: 28808920
[TBL] [Abstract][Full Text] [Related]
40. Quantitative, Label-Free Proteomics in the Symptomatic Niemann-Pick, Type C1 Mouse Model Using Standard Flow Liquid Chromatography and Thermal Focusing Electrospray Ionization.
Pergande MR; Nguyen TTA; Haney-Ball C; Davidson CD; Cologna SM
Proteomics; 2019 May; 19(9):e1800432. PubMed ID: 30888112
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
