(Q46236219)

20 December 2017

title

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease (English)

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20 December 2017

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Cécile Cazeneuve

1

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20 December 2017

Channkanira Sân

2

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20 December 2017

Salah A Ibrahim

3

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20 December 2017

Maowia M Mukhtar

4

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20 December 2017

Musa M Kheir

5

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20 December 2017

Eric Leguern

6

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20 December 2017

Alexis Brice

7

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20 December 2017

Mustafa A Salih

8

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20 December 2017

publication date

12 February 2009

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20 December 2017

published in

Neurogenetics

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20 December 2017

volume

10

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20 December 2017

issue

3

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20 December 2017

page(s)

265-270

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20 December 2017

https://scigraph.springernature.com/pub.10.1007/s10048-009-0174-4

exact match

0 references

cites work

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

1 reference

12 December 2020

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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12 December 2020

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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12 December 2020

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

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12 December 2020

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.

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12 December 2020

Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1

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12 December 2020

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

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12 December 2020

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

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12 December 2020

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

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12 December 2020

PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies

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12 December 2020

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

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12 December 2020

PINK1 mutations and parkinsonism

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12 December 2020

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study

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12 December 2020

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

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12 December 2020

Parkinson's disease in Arabs: a systematic review

1 reference

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

12 December 2020

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease

1 reference

12 December 2020

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

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12 December 2020

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

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12 December 2020

10.1007/S10048-009-0174-4

Identifiers

DOI

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20 December 2017

PubMed ID

19214605

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20 December 2017