195 related articles for article (PubMed ID: 32482919)
1. Novel compound heterozygous mutation in
Costanzo MC; Nicotera AG; Vinci M; Vitello A; Fiumara A; Calì F; Musumeci SA
J Genet; 2020; 99():. PubMed ID: 32482919
[TBL] [Abstract][Full Text] [Related]
2. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B; Baruteau J; Rahim AA; Gissen P
Int J Mol Sci; 2020 Jul; 21(14):. PubMed ID: 32709131
[TBL] [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. 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]
5. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C; Zhao M; Zhang X; Hao J; Huo Q; Sun J; Xing J; Zhang Y; Zhao J; Huang H
BMC Infect Dis; 2024 Jan; 24(1):145. PubMed ID: 38291356
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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]
8. Niemann-Pick type C disease: Case report and review of the literature.
Liu C; Li J; Xu T; Song M; Luo H
Neuro Endocrinol Lett; 2023 Apr; 44(2):101-104. PubMed ID: 37182232
[TBL] [Abstract][Full Text] [Related]
9. Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
Brogden G; Shammas H; Walters F; Maalouf K; Das AM; Naim HY; Rizk S
Int J Mol Sci; 2020 Mar; 21(6):. PubMed ID: 32204338
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Fancello T; Dardis A; Rosano C; Tarugi P; Tappino B; Zampieri S; Pinotti E; Corsolini F; Fecarotta S; D'Amico A; Di Rocco M; Uziel G; Calandra S; Bembi B; Filocamo M
Neurogenetics; 2009 Jul; 10(3):229-39. PubMed ID: 19252935
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
Sitarska D; Ługowska A
Metab Brain Dis; 2019 Oct; 34(5):1253-1260. PubMed ID: 31197681
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Familial Alzheimer's disease associated with heterozygous
Lopergolo D; Bianchi S; Gallus GN; Locci S; Pucci B; Leoni V; Gasparini D; Tardelli E; Chincarini A; Sestini S; Santorelli FM; Zetterberg H; De Stefano N; Mignarri A
J Med Genet; 2024 Mar; 61(4):332-339. PubMed ID: 37989569
[TBL] [Abstract][Full Text] [Related]
18. New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L; Cebolla JJ; Aldámiz-Echevarría L; de la Vega Á; Stanescu S; Lahoz C; Irún P; Giraldo P
Mol Biol Rep; 2020 Mar; 47(3):2085-2095. PubMed ID: 32060698
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]