Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
|
28373276 |
2017 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Three families with mild PMM2-CDG and normal cognitive development.
|
28425223 |
2017 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
|
28373276 |
2017 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Three families with mild PMM2-CDG and normal cognitive development.
|
28425223 |
2017 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
|
26805780 |
2016 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
|
26805780 |
2016 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
|
26014514 |
2015 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
|
26488408 |
2015 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
|
26488408 |
2015 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
|
26014514 |
2015 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
|
24498599 |
2013 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
|
24498599 |
2013 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A new insight into PMM2 mutations in the French population.
|
15844218 |
2005 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A new insight into PMM2 mutations in the French population.
|
15844218 |
2005 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
|
11343337 |
2001 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
|
11343337 |
2001 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
|
10854097 |
2000 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
|
10854097 |
2000 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
|
10527672 |
1999 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
|
10602363 |
1999 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
|
10527672 |
1999 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
|
10602363 |
1999 |
Movement Disorders
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
|
9140401 |
1997 |
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
|
9140401 |
1997 |