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Items: 1 to 20 of 27

1.

Intellectual functioning in alpha-mannosidosis.

Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L.

JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073. eCollection 2019 Nov.

2.

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A.

Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y.

3.

Alpha-Mannosidosis.

Malm D, Nilssen Ø.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Oct 11 [updated 2019 Jul 18].

4.

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L.

Am J Med Genet A. 2019 Sep;179(9):1756-1763. doi: 10.1002/ajmg.a.61273. Epub 2019 Jun 26.

PMID:
31241255
5.

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M.

J Inherit Metab Dis. 2019 Sep;42(5):975-983. doi: 10.1002/jimd.12138. Epub 2019 Jul 24.

PMID:
31222755
6.

Biochemical Characterization of a Lysosomal α-Mannosidase from the Starfish Asterias rubens.

Ajith Kumar A, Siva Kumar N.

Protein J. 2018 Aug;37(4):361-368. doi: 10.1007/s10930-018-9778-6.

PMID:
29882184
7.

Origin of α-mannosidase activity in CSF.

Tasegian A, Paciotti S, Ceccarini MR, Codini M, Moors T, Chiasserini D, Albi E, Winchester B, van de Berg WDJ, Parnetti L, Beccari T.

Int J Biochem Cell Biol. 2017 Jun;87:34-37. doi: 10.1016/j.biocel.2017.03.016. Epub 2017 Mar 27.

PMID:
28359775
8.

Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.

Riise Stensland HM, Klenow HB, Nguyen LV, Hansen GM, Malm D, Nilssen Ø.

Hum Mutat. 2016 Aug;37(8):827. doi: 10.1002/humu.23002. Epub 2016 May 12. No abstract available.

PMID:
27396955
9.

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM.

Orphanet J Rare Dis. 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x.

10.

The effects of swainsonine on the activity and expression of α-mannosidase in BRL-3A cells.

Lu H, Ma F, Wang H, Geng PS, Wang SS, Wang JG, Wu CC, Zhao BY.

Toxicon. 2015 Jun 1;99:44-50. doi: 10.1016/j.toxicon.2015.03.008. Epub 2015 Mar 19.

PMID:
25797317
11.

amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.

Riise Stensland HM, Frantzen G, Kuokkanen E, Buvang EK, Klenow HB, Heikinheimo P, Malm D, Nilssen Ø.

Hum Mutat. 2015 Jun;36(6):581-6. doi: 10.1002/humu.22787. Epub 2015 Apr 9.

PMID:
25762455
12.

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

Natiq A, Elalaoui SC, Miesch S, Bonnet C, Jonveaux P, Amzazi S, Sefiani A.

Mol Cytogenet. 2014 Jun 5;7:40. doi: 10.1186/1755-8166-7-40. eCollection 2014.

13.

Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.

Manichaikul A, Hoffman EA, Smolonska J, Gao W, Cho MH, Baumhauer H, Budoff M, Austin JH, Washko GR, Carr JJ, Kaufman JD, Pottinger T, Powell CA, Wijmenga C, Zanen P, Groen HJ, Postma DS, Wanner A, Rouhani FN, Brantly ML, Powell R, Smith BM, Rabinowitz D, Raffel LJ, Hinckley Stukovsky KD, Crapo JD, Beaty TH, Hokanson JE, Silverman EK, Dupuis J, O'Connor GT, Boezen HM, Rich SS, Barr RG.

Am J Respir Crit Care Med. 2014 Feb 15;189(4):408-18. doi: 10.1164/rccm.201306-1061OC.

14.

Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.

Wu X, Pan J, Guo Y, Guo C, Jiang W, Li R, Tang J, Ai Y.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):491-5. doi: 10.1515/jpem-2013-0307.

PMID:
24353136
15.

Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex.

De Marchis F, Bellucci M, Pompa A.

Plant Physiol. 2013 Apr;161(4):1769-82. doi: 10.1104/pp.113.214536. Epub 2013 Feb 28.

16.

Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

Riise Stensland HM, Klenow HB, Van Nguyen L, Hansen GM, Malm D, Nilssen Ø.

Hum Mutat. 2012 Mar;33(3):511-20. doi: 10.1002/humu.22005. Epub 2012 Jan 23. Erratum in: Hum Mutat. 2016 Aug;37(8):827.

PMID:
22161967
17.

Human α-mannosidase produced in transgenic tobacco plants is processed in human α-mannosidosis cell lines.

De Marchis F, Balducci C, Pompa A, Riise Stensland HM, Guaragno M, Pagiotti R, Menghini AR, Persichetti E, Beccari T, Bellucci M.

Plant Biotechnol J. 2011 Dec;9(9):1061-73. doi: 10.1111/j.1467-7652.2011.00630.x. Epub 2011 Jun 7.

18.

Human lysosomal α-D-mannosidase regulation in promyelocytic leukaemia cells.

Urbanelli L, Magini A, Ercolani L, Trivelli F, Polchi A, Tancini B, Emiliani C.

Biosci Rep. 2011 Dec;31(6):477-87. doi: 10.1042/BSR20110020.

PMID:
21521175
19.

Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

Kuokkanen E, Riise Stensland HM, Smith W, Kjeldsen Buvang E, Van Nguyen L, Nilssen Ø, Heikinheimo P.

Hum Mol Genet. 2011 Jul 1;20(13):2651-61. doi: 10.1093/hmg/ddr167. Epub 2011 Apr 19.

PMID:
21505070
20.

Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha.

Al Balwi M, Waffa E, Ibrahim AA.

Hum Genet. 2010 Jan;127(1):122. No abstract available.

PMID:
20108400

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