Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 139

Similar articles for PubMed (Select 9634529)

1.

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, Dobson MJ, Neumann PE.

Am J Hum Genet. 1998 Jul;63(1):52-4.

2.

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A.

Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.

3.

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J.

PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013.

4.

Type a niemann-pick disease. Description of three cases with delayed myelination.

D'Amico A, Sibilio M, Caranci F, Bartiromo F, Taurisano R, Balivo F, Melis D, Parenti G, Cirillo S, Elefante R, Brunetti A.

Neuroradiol J. 2008 Jun 3;21(3):309-15. Epub 2008 Jun 3.

PMID:
24256898
5.

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

Kluenemann HH, Nutt JG, Davis MY, Bird TD.

J Neurol Sci. 2013 Dec 15;335(1-2):219-20. doi: 10.1016/j.jns.2013.08.033. Epub 2013 Sep 3.

PMID:
24035292
6.

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F.

Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22.

PMID:
23618813
7.

[Clinical and genetic special features of Niemann-Pick disease, type C].

Zakharova EIu, Mikhaĭlova SV, Proshliakova TIu, Rudenskaia GE.

Vestn Ross Akad Med Nauk. 2012;(12):60-5. Review. Russian.

PMID:
23530428
8.

New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.

Fusco C, Russo A, Galla D, Hladnik U, Frattini D, Giustina ED.

J Child Neurol. 2013 Dec;28(12):1694-7. doi: 10.1177/0883073812462765. Epub 2012 Oct 30.

PMID:
23112236
9.

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1.

Ordonez MP, Roberts EA, Kidwell CU, Yuan SH, Plaisted WC, Goldstein LS.

Hum Mol Genet. 2012 Jun 15;21(12):2651-62. doi: 10.1093/hmg/dds090. Epub 2012 Mar 21.

10.

The Niemann-Pick C1 gene interacts with a high-fat diet and modifying genes to promote weight gain.

Jelinek D, Heidenreich RA, Garver WS.

Am J Med Genet A. 2011 Sep;155A(9):2317-9. doi: 10.1002/ajmg.a.34135. Epub 2011 Aug 3. No abstract available.

PMID:
21815257
11.

An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.

Goez HR, Jacob FD, Fealey RD, Patterson MC, Ramaswamy V, Persad R, Johnson ES, Yager JY.

J Child Neurol. 2011 Apr;26(4):518-21. doi: 10.1177/0883073810383983. Epub 2011 Jan 27.

PMID:
21273508
12.

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group.

Clin Genet. 2011 Jul;80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6.

PMID:
20718790
13.

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.

Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D.

Hum Mutat. 2009 Nov;30(11):E993-E1001. doi: 10.1002/humu.21119.

PMID:
19718781
14.

Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells.

Karten B, Peake KB, Vance JE.

Biochim Biophys Acta. 2009 Jul;1791(7):659-70. doi: 10.1016/j.bbalip.2009.01.025. Epub 2009 Feb 11. Review.

PMID:
19416638
15.

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A.

Hum Mutat. 2009 Jul;30(7):1117-22. doi: 10.1002/humu.21018.

16.

The clinical spectrum of fetal Niemann-Pick type C.

Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal R, Sury V, Meir K, Nadjari M, Hermann G, Iancu TC, Shalev SA, Zeigler M.

Am J Med Genet A. 2009 Mar;149A(3):446-50. doi: 10.1002/ajmg.a.32642.

PMID:
19206179
17.

Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease.

Vite CH, Ding W, Bryan C, O'Donnell P, Cullen K, Aleman D, Haskins ME, Van Winkle T.

Pediatr Res. 2008 Nov;64(5):544-9. doi: 10.1203/PDR.0b013e318184d2ce.

18.

Clear cell chondrosarcoma in association with niemann-pick disease.

Srikanth KN, Kulkarni A, Davies AM, Sumathi VP, Grimer RJ.

Sarcoma. 2005;9(1-2):33-6. doi: 10.1080/13577140500090030.

19.

Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.

Gelsthorpe ME, Baumann N, Millard E, Gale SE, Langmade SJ, Schaffer JE, Ory DS.

J Biol Chem. 2008 Mar 28;283(13):8229-36. doi: 10.1074/jbc.M708735200. Epub 2008 Jan 23.

20.

[Annexins in Niemann-Pick type C disease].

Buszewska ME, Strzelecka-Kiliszek A, Tylki-Szymańska A, Bandorowicz-Pikuła J.

Postepy Biochem. 2007;53(2):169-73. Review. Polish.

PMID:
17969878
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk