Literature DB >> 34228376

Copy Number Variation in Parkinson's Disease: An Update from Sub-Saharan Africa.

Amica C Müller-Nedebock1,2, Morenikeji A Komolafe3, Michael B Fawale3, Jonathan A Carr2,4, Francois H van der Westhuizen5, Owen A Ross6,7, Soraya Bardien1,2.   

Abstract

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Year:  2021        PMID： 34228376      PMCID： PMC8530875          DOI： 10.1002/mds.28710

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   9.698


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  15 in total

1.  Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.

Authors:  Ekaterina Yonova-Doing; Masharip Atadzhanov; Marialuisa Quadri; Paul Kelly; Nyambura Shawa; Sheila T S Musonda; Erik J Simons; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati
Journal:  Parkinsonism Relat Disord       Date:  2012-03-24       Impact factor: 4.891

2.  Clinical findings and genetic screening for copy number variation mutations in a cohort of South African patients with Parkinson's disease.

Authors:  Anna Cecelia Mahne; Jonathan A Carr; Soraya Bardien; Clara Maria Schutte
Journal:  S Afr Med J       Date:  2016-05-11

Review 3.  The contribution of CNVs to the most common aging-related neurodegenerative diseases.

Authors:  Giulia Gentile; Valentina La Cognata; Sebastiano Cavallaro
Journal:  Aging Clin Exp Res       Date:  2020-02-06       Impact factor: 3.636

4.  PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa.

Authors:  M C J Dekker; J M Suleiman; D Bhwana; W P Howlett; S M Rashid; R van Minkelen; B C Hamel
Journal:  Parkinsonism Relat Disord       Date:  2020-02-29       Impact factor: 4.891

5.  Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.

Authors:  William L Haylett; Rowena J Keyser; Melissa C du Plessis; Celia van der Merwe; Janine Blanckenberg; Debbie Lombard; Jonathan Carr; Soraya Bardien
Journal:  Parkinsonism Relat Disord       Date:  2011-10-12       Impact factor: 4.891

6.  Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease.

Authors:  Mie Rizig; Oluwadamilola O Ojo; Alkyoni Athanasiou-Fragkouli; Osigwe P Agabi; Olajumoke O Oshinaike; Henry Houlden; Njideka U Okubadejo
Journal:  Neurobiol Aging       Date:  2020-10-01       Impact factor: 4.673

7.  Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease.

Authors:  Nicola du Toit; Riaan van Coller; David G Anderson; Jonathan Carr; Soraya Bardien
Journal:  Neurogenetics       Date:  2019-09-06       Impact factor: 2.660

8.  A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease.

Authors:  Li Shu; Yuan Zhang; Qiying Sun; Hongxu Pan; Beisha Tang
Journal:  Front Aging Neurosci       Date:  2019-01-30       Impact factor: 5.750

9.  Early-Onset Parkinson Disease Screening in Patients From Nigeria.

Authors:  Lukasz M Milanowski; Olajumoke Oshinaike; Benjamin J Broadway; Jennifer A Lindemann; Alexandra I Soto-Beasley; Ronald L Walton; Rana Hanna Al-Shaikh; Audrey J Strongosky; Fabienne C Fiesel; Owen A Ross; Wolfdieter Springer; Shamsideen Abayomi Ogun; Zbigniew K Wszolek
Journal:  Front Neurol       Date:  2021-01-14       Impact factor: 4.003

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504
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  1 in total

1.  Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Authors:  Nikita Simone Pillay; Owen A Ross; Alan Christoffels; Soraya Bardien
Journal:  Front Genet       Date:  2022-03-01       Impact factor: 4.599
  1 in total

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