Top 20 of alpha-Mannosidosis

Article title # Publications/# Citations

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study.

2004: CAndersson; CBalducci; TBeccari; JFogh; RLüllmann-Rauch; AOrlacchio; JPeng; DPRoces; ... PSaftig; OTollersrud; Kvon Figura;

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Large animal models and gene therapy.

2006: MCasal; MHaskins;

22

Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease.

1994: KDobrenis; MHuang; PAMarch; DASiegel; MAThrall; SUWalkley; SWurzelmann;

16

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice.

2008: CAndersson; JBlanz; RD'Hooge; JFogh; MLüdemann; RLüllmann-Rauch; JCMichalski; WMorelle; ... HReuterwall; PSaftig; SStroobants;

15

Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats.

1997: TBerg; ONilssen; DSiegel; OKTollersrud; SUWalkley;

13

The N-glycan glycoprotein deglycosylation complex (Gpd) from Capnocytophaga canimorsus deglycosylates human IgG.

2011: GRCornelis; PJenö; MMally; PManfredi; SMoes; FRenzi;

12

Alpha-mannosidosis.

2008: DMalm; ØNilssen;

10

Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement.

1991: HJBaker; MEHaskins; MCRattazzi; SUWalkley; JYWu;

10

Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis.

1997: TBerg; GEvjen; PHealy; ONilssen; URamachandran; OKTollersrud;

10

A human lysosomal alpha(1----6)-mannosidase active on the branched trimannosyl core of complex glycans.

1992: PFDaniel; RDe Gasperi; JEEvans; CDWarren; BWinchester;

9

Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis.

2005: DBalschun; TBeckers; RD'Hooge; RLüllmann-Rauch; KReiss; PSaftig; MSchwake; Kvon Figura;

9

Oligosaccharide transport: pumping waste from the ER into lysosomes.

1999: SEMoore;

9

Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis.

1999: TBeccari; RCoenen; DHartmann; RLüllmann-Rauch; AOrlacchio; PSaftig; SStinchi; Kvon Figura;

9

The substrate-specificity of human lysosomal alpha-D-mannosidase in relation to genetic alpha-mannosidosis.

1991: Sal Daher; PDaniel; RDe Gasperi; NHall; CDWarren; BWinchester;

9

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

1998: YGotoda; HKawai; TMatsumoto; YNishida; NWakamatsu;

8

alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

1997: TBerg; GEvjen; GMHansen; DMalm; ONilssen; URamachandran; HMRiise; OKTollersrud; LTranebjaerg;

7

Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis.

2001: KGBraund; KJDrobatz; JDGlickson; MEHaskins; JCMcGowan; CHVite; JHWolfe;

7

Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.

1998: AHAlkhayat; KHFriderici; WJKleijer; SAKraemer; JRLeipprandt; MMacek;

7

Selection in favor of lysosomal storage disorders?

1988: GBach; MZeigler; JZlotogora;

7

The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis.

1991: Sal Daher; PFDaniel; RdeGasperi; RWJeanloz; CDWarren; BGWinchester;

7