(Q48714145)

English

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.

scientific article published in September 2000

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scholarly article

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. (English)

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Parkinson's disease

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

author name string

Yamamura Y

1

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Hattori N

2

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Matsumine H

3

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Kuzuhara S

4

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Mizuno Y

5

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

publication date

1 September 2000

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Brain and Development

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

22 Suppl 1

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

S87-91

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, pathologic and genetic studies on autosomal recessive early-onset parkinsonism with diurnal fluctuation

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Idiopathic dystonia-parkinsonism with marked diurnal fluctuation of symptoms

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Gro

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetic analysis of a novelParkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in theParkin gene in affected individuals

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Young-onset Parkinson's disease revisited--clinical features, natural history, and mortality

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Dopa-responsive dystonia: pathological and biochemical observations in a case.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial parkinsonism: Our experience and review

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2800%2900130-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0387-7604(00)00130-3

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

1 reference

Europe PubMed Central

14 February 2018

http://europepmc.org/abstract/MED/10984666

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