143 related articles for article (PubMed ID: 36608914)
1. Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
Hammerschmidt TG; Encarnação M; Lamberty Faverzani J; de Fátima Lopes F; Poswar de Oliveira F; Fischinger Moura de Sousa C; Ribeiro I; Alves S; Giugliani R; Regla Vargas C
Arch Biochem Biophys; 2023 Feb; 735():109510. PubMed ID: 36608914
[TBL] [Abstract][Full Text] [Related]
2. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
Hammerschmidt TG; de Oliveira Schmitt Ribas G; Saraiva-Pereira ML; Bonatto MP; Kessler RG; Souza FTS; Trapp F; Michelin-Tirelli K; Burin MG; Giugliani R; Vargas CR
Int J Dev Neurosci; 2018 May; 66():18-23. PubMed ID: 29197565
[TBL] [Abstract][Full Text] [Related]
3. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Sidhu R; Kell P; Dietzen DJ; Farhat NY; Do AND; Porter FD; Berry-Kravis E; Reunert J; Marquardt T; Giugliani R; Lourenço CM; Wang RY; Movsesyan N; Plummer E; Schaffer JE; Ory DS; Jiang X
Mol Genet Metab; 2020 Dec; 131(4):405-417. PubMed ID: 33257258
[TBL] [Abstract][Full Text] [Related]
4. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J; Fobker M; Kannenberg F; Du Chesne I; Plate M; Wellhausen J; Rust S; Marquardt T
EBioMedicine; 2016 Feb; 4():170-5. PubMed ID: 26981555
[TBL] [Abstract][Full Text] [Related]
5. Serum Markers of Neurodegeneration in Maple Syrup Urine Disease.
Scaini G; Tonon T; de Souza CFM; Schuk PF; Ferreira GC; Neto JS; Amorin T; Schwartz IVD; Streck EL
Mol Neurobiol; 2017 Sep; 54(7):5709-5719. PubMed ID: 27660262
[TBL] [Abstract][Full Text] [Related]
6. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J; Lotz-Havla AS; Polo G; Kannenberg F; Fobker M; Griese M; Mengel E; Muntau AC; Schnabel P; Sommerburg O; Borggraefe I; Dardis A; Burlina AP; Mall MA; Ciana G; Bembi B; Burlina AB; Marquardt T
JIMD Rep; 2015; 23():17-26. PubMed ID: 25772320
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
Degtyareva AV; Proshlyakova TY; Gautier MS; Degtyarev DN; Kamenets EA; Baydakova GV; Rebrikov DV; Zakharova EY
BMC Med Genet; 2019 Jul; 20(1):123. PubMed ID: 31296176
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.
Maceyka M; Milstien S; Spiegel S
FEBS J; 2013 Dec; 280(24):6367-72. PubMed ID: 23992240
[TBL] [Abstract][Full Text] [Related]
12. Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
Ribas GS; Souza HM; de Mari J; Deon M; Mescka C; Saraiva-Pereira ML; Kessler R; Trapp F; Michelin K; Burin M; Vargas CR; Giugliani R
Clin Chim Acta; 2016 Aug; 459():57-62. PubMed ID: 27234403
[No Abstract] [Full Text] [Related]
13. Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Agrawal N; Farhat NY; Sinaii N; Do AD; Xiao C; Berry-Kravis E; Bianconi S; Masvekar R; Bielekova B; Solomon B; Porter FD
Genet Med; 2023 Mar; 25(3):100349. PubMed ID: 36470574
[TBL] [Abstract][Full Text] [Related]
14. Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley NX; Giddens S; Farhat NM; Luke RA; Scott KEJ; Mohamed HO; Dang Do A; Berry-Kravis E; Cologna SM; Liu F; Porter FD
Mol Genet Metab; 2023 Nov; 140(3):107656. PubMed ID: 37517328
[TBL] [Abstract][Full Text] [Related]
15. A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.
Li W; Pergande MR; Crutchfield CA; Searle BC; Backlund PS; Picache JA; Burkert K; Yanjanin-Farhat NM; Blank PS; Toth CL; Wassif CA; Porter FD; Cologna SM
Proteomics; 2023 Jun; 23(11):e2200378. PubMed ID: 36638187
[TBL] [Abstract][Full Text] [Related]
16. Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann-Pick Type C1 mice.
Hovakimyan M; Maass F; Petersen J; Holzmann C; Witt M; Lukas J; Frech MJ; Hübner R; Rolfs A; Wree A
Neuroscience; 2013 Nov; 252():201-11. PubMed ID: 23948640
[TBL] [Abstract][Full Text] [Related]
17. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Mengel E; Bembi B; Del Toro M; Deodato F; Gautschi M; Grunewald S; Grønborg S; Héron B; Maier EM; Roubertie A; Santra S; Tylki-Szymanska A; Day S; Symonds T; Hudgens S; Patterson MC; Guldberg C; Ingemann L; Petersen NHT; Kirkegaard T; Í Dali C
Orphanet J Rare Dis; 2020 Nov; 15(1):328. PubMed ID: 33228797
[TBL] [Abstract][Full Text] [Related]
18. Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1.
Witt M; Thiemer R; Meyer A; Schmitt O; Wree A
Int J Mol Sci; 2018 Nov; 19(11):. PubMed ID: 30424529
[TBL] [Abstract][Full Text] [Related]
19. Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: a mouse model of Niemann-Pick type C1 disease.
Maass F; Petersen J; Hovakimyan M; Schmitt O; Witt M; Hawlitschka A; Lukas J; Rolfs A; Wree A
J Neurosci Res; 2015 Mar; 93(3):433-42. PubMed ID: 25400034
[TBL] [Abstract][Full Text] [Related]
20. Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1.
Cougnoux A; Yerger JC; Fellmeth M; Serra-Vinardell J; Navid F; Wassif CA; Cawley NX; Porter FD
Mol Genet Metab; 2021 Dec; 134(4):330-336. PubMed ID: 34802899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
