Literature DB >> 30713982

Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication.

Simona Petrucci1,2, Gina Ferrazzano3, Monia Ginevrino1,4, Manuela Tolve5, Isabella Berardelli2, Alfredo Berardelli2,3, Giovanni Fabbrini2,3, Enza Maria Valente1,4.   

Abstract

Entities:  

Keywords:  Park2; Parkin; duplication; early onset Parkinson disease; phenotype

Year:  2017        PMID： 30713982      PMCID： PMC6353389          DOI： 10.1002/mdc3.12531

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.

Authors:  W C Nichols; N Pankratz; S K Uniacke; M W Pauciulo; C Halter; A Rudolph; P M Conneally; T Foroud
Journal:  J Med Genet       Date:  2002-07       Impact factor: 6.318

2.  Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

Authors:  Magali Periquet; Morwena Latouche; Ebba Lohmann; Nina Rawal; Giuseppe De Michele; Sylvain Ricard; Hélio Teive; Valérie Fraix; Marie Vidailhet; David Nicholl; Paolo Barone; Nick W Wood; Salmo Raskin; Jean-François Deleuze; Yves Agid; Alexandra Dürr; Alexis Brice
Journal:  Brain       Date:  2003-06       Impact factor: 13.501

3.  Isolated limb dystonia as presenting feature of Parkin disease.

Authors:  Antonio E Elia; Francesca Del Sorbo; Luigi M Romito; Chiara Barzaghi; Barbara Garavaglia; Alberto Albanese
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-03-21       Impact factor: 10.154

Review 4.  Next-generation phenotyping using the parkin example: time to catch up with genetics.

Authors:  Anne Grünewald; Meike Kasten; Andreas Ziegler; Christine Klein
Journal:  JAMA Neurol       Date:  2013-09-01       Impact factor: 18.302

5.  Parkinson Disease Genetics: A "Continuum" from Mendelian to Multifactorial Inheritance.

Authors:  S Petrucci; F Consoli; E M Valente
Journal:  Curr Mol Med       Date:  2014       Impact factor: 2.222

6.  Analysis of exon dosage using MLPA in South African Parkinson's disease patients.

Authors:  Rowena J Keyser; Debbie Lombard; Rene Veikondis; Jonathan Carr; Soraya Bardien
Journal:  Neurogenetics       Date:  2009-12-15       Impact factor: 2.660

7.  Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Authors:  J Brooks; J Ding; J Simon-Sanchez; C Paisan-Ruiz; A B Singleton; S W Scholz
Journal:  J Med Genet       Date:  2009-04-06       Impact factor: 6.318

8.  Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Authors:  Karen Nuytemans; Bram Meeus; David Crosiers; Nathalie Brouwers; Dirk Goossens; Sebastiaan Engelborghs; Philippe Pals; Barbara Pickut; Marleen Van den Broeck; Ellen Corsmit; Patrick Cras; Peter P De Deyn; Jurgen Del-Favero; Christine Van Broeckhoven; Jessie Theuns
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

9.  Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Authors:  Hao Deng; Wei-Dong Le; Christine B Hunter; William G Ondo; Yi Guo; Wen-Jie Xie; Joseph Jankovic
Journal:  Arch Neurol       Date:  2006-02

10.  Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease.

Authors:  Brianada Koentjoro; Jin-Sung Park; Carolyn M Sue
Journal:  Sci Rep       Date:  2017-03-10       Impact factor: 4.379
  10 in total

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