(Q39429427)

11 September 2017

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

1 reference

11 September 2017

6

Øivind Nilssen

1 reference

11 September 2017

5

Dag Malm

1 reference

PubMed ID

22161967

Hilde Monica Frostad Riise Stensland

11 September 2017

series ordinal

1

object named as

Hilde Monica Frostad Riise Stensland

1 reference

11 September 2017

2

Helle Bagterp Klenow

1 reference

11 September 2017

Lam Van Nguyen

3

1 reference

PubMed ID

22161967

11 September 2017

Gaute Martin Hansen

series ordinal

4

1 reference

11 September 2017

23 January 2012

1 reference

11 September 2017

1 reference

11 September 2017

33

1 reference

11 September 2017

3

1 reference

11 September 2017

511-520

1 reference

alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis

11 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Purification and characterization of recombinant human lysosomal alpha-mannosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Spectrum of mutations in alpha-mannosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Biochemical studies on a case of feline mannosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Early onset alpha-mannosidosis with slow progression in three Hispanic males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Mannosidosis: Tissue culture studies in relation to prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Mannosidosis. Clinical and biochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Bone marrow transplantation in the treatment of alpha-mannosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

Mannosidosis: clinical, fine-structural and biochemical findings in three cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Isolation and characterization of the gene encoding the mouse broad specificity lysosomal alpha-mannosidase1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Mannosidosis in two brothers: prolonged survival in the severe phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Synthesis of lysosomal alpha-mannosidase in normal and mannosidosis fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Sisters with alpha-mannosidosis and systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22005

7 January 2021

Identifiers

DOI

10.1002/HUMU.22005

1 reference

11 September 2017

1 reference

PubMed ID

22161967