A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. (Q31859176)

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3 November 2019

title

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia (English)

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3 November 2019

1 reference

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parkinsonian syndrome

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inferred from title

author

Nicolas Pineda Trujillo

1

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3 November 2019

David A. Pineda

6

1 reference

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3 November 2019

author name string

L G Carvajal-Carmona

2

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3 November 2019

O Buriticá

3

1 reference

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3 November 2019

S Moreno

4

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3 November 2019

C Uribe

5

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3 November 2019

M Toro

7

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3 November 2019

F García

8

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3 November 2019

W Arias

9

1 reference

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3 November 2019

G Bedoya

10

1 reference

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3 November 2019

F Lopera

11

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3 November 2019

A Ruiz-Linares

12

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3 November 2019

language of work or name

English

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publication date

1 February 2001

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3 November 2019

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3 November 2019

volume

298

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3 November 2019

issue

2

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3 November 2019

page(s)

87-90

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

3 November 2019

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1 reference

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7 January 2021

The genetics of Parkinson's disease

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7 January 2021

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

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7 January 2021

Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia

1 reference

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7 January 2021

Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.

1 reference

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7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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7 January 2021

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

1 reference

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7 January 2021

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

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7 January 2021

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

1 reference

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7 January 2021

Etiology and pathogenesis of Parkinson's disease

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease

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7 January 2021

Familial juvenile parkinsonism: clinical and pathologic study in a family.

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7 January 2021

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7 January 2021

Population choice in mapping genes for complex diseases

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