Literature DB >> 26195290

22q11.2 deletion syndrome presenting with early-onset Parkinson's disease.

Aliya F Rehman1, Radhika Dhamija1, Eli S Williams2, Matthew J Barrett1.   

Abstract

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Year:  2015        PMID： 26195290     DOI： 10.1002/mds.26305

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  9 in total

1.  Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome.

Authors:  Fradique Moreira; Ana Brás; Joana Ramos Lopes; Cristina Januário
Journal:  BMJ Case Rep       Date:  2018-03-22

Review 2.  Molecular genetics of 22q11.2 deletion syndrome.

Authors:  Bernice E Morrow; Donna M McDonald-McGinn; Beverly S Emanuel; Joris R Vermeesch; Peter J Scambler
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

Review 3.  New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Authors:  Andreas Puschmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-09       Impact factor: 5.081

Review 4.  Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.

Authors:  Valentina La Cognata; Giovanna Morello; Velia D'Agata; Sebastiano Cavallaro
Journal:  Hum Genet       Date:  2016-11-28       Impact factor: 4.132

5.  Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN.

Authors:  Eli S Williams; Matthew J Barrett; Radhika Dhamija; Lisa Toran; Chelsea Chambers; Mani S Mahadevan; Wendy L Golden
Journal:  Mol Genet Genomic Med       Date:  2018-03-25       Impact factor: 2.183

Review 6.  Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.

Authors:  Aintzane Urbizu; Katrin Beyer
Journal:  Int J Mol Sci       Date:  2020-07-02       Impact factor: 5.923

7.  A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia.

Authors:  Akiko Sumitomo; Kouta Horike; Kazuko Hirai; Nancy Butcher; Erik Boot; Takeshi Sakurai; Frederick C Nucifora; Anne S Bassett; Akira Sawa; Toshifumi Tomoda
Journal:  Sci Adv       Date:  2018-08-15       Impact factor: 14.136

8.  Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

Authors:  Nancy J Butcher; Daniele Merico; Mehdi Zarrei; Lucas Ogura; Christian R Marshall; Eva W C Chow; Anthony E Lang; Stephen W Scherer; Anne S Bassett
Journal:  PLoS One       Date:  2017-04-21       Impact factor: 3.240

9.  Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Authors:  Stefano Gambardella; Rosangela Ferese; Simona Scala; Stefania Carboni; Francesca Biagioni; Emiliano Giardina; Stefania Zampatti; Nicola Modugno; Francesco Fabbiano; Francesco Fornai; Diego Centonze; Stefano Ruggieri
Journal:  Parkinsons Dis       Date:  2018-06-21
  9 in total

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