Literature DB >> 31028127

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss.

Derek P Narendra1, Risa Isonaka2, Diana Nguyen2, Alice B Schindler2, Angela D Kokkinis2, Debra Ehrlich2, Tanya M Bardakjian2, David S Goldstein2, Tsao-Wei Liang2, Pedro Gonzalez-Alegre2.   

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Year:  2019        PMID： 31028127      PMCID： PMC6556091          DOI： 10.1212/WNL.0000000000007614

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

Authors:  Shaghayegh Taghavi; Rita Chaouni; Abbas Tafakhori; Luis J Azcona; Saghar Ghasemi Firouzabadi; Mir Davood Omrani; Javad Jamshidi; Babak Emamalizadeh; Gholam Ali Shahidi; Mona Ahmadi; Seyed Amir Hassan Habibi; Azadeh Ahmadifard; Atena Fazeli; Marzieh Motallebi; Peyman Petramfar; Saeed Askarpour; Shiva Askarpour; Hossein Ali Shahmohammadibeni; Neda Shahmohammadibeni; Hajar Eftekhari; Amir Ehtesham Shafiei Zarneh; Saeed Mohammadihosseinabad; Mehdi Khorrami; Safa Najmi; Ahmad Chitsaz; Parasto Shokraeian; Hossein Ehsanbakhsh; Jalal Rezaeidian; Reza Ebrahimi Rad; Faranak Madadi; Monavvar Andarva; Elham Alehabib; Minoo Atakhorrami; Seyed Erfan Mortazavi; Zahra Azimzadeh; Mahdis Bayat; Amir Mohammad Besharati; Mohammad Ali Harati-Ghavi; Samareh Omidvari; Zahra Dehghani-Tafti; Faraz Mohammadi; Banafsheh Mohammad Hossein Pour; Hamid Noorollahi Moghaddam; Ehsan Esmaili Shandiz; Arman Habibi; Zahra Taherian-Esfahani; Hossein Darvish; Coro Paisán-Ruiz
Journal:  Mol Neurobiol       Date:  2017-05-13       Impact factor: 5.590

2.  DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.

Authors:  Ricardo Taipa; Conceição Pereira; Inês Reis; Isabel Alonso; António Bastos-Lima; Manuel Melo-Pires; Marina Magalhães
Journal:  Brain       Date:  2016-04-16       Impact factor: 13.501

3.  Alpha-Synuclein Deposition Within Sympathetic Noradrenergic Neurons Is Associated With Myocardial Noradrenergic Deficiency in Neurogenic Orthostatic Hypotension.

Authors:  Risa Isonaka; Avi Z Rosenberg; Patti Sullivan; Abraham Corrales; Courtney Holmes; Yehonatan Sharabi; David S Goldstein
Journal:  Hypertension       Date:  2019-04       Impact factor: 10.190

4.  Parkinsonism-associated protein DJ-1/Park7 is a major protein deglycase that repairs methylglyoxal- and glyoxal-glycated cysteine, arginine, and lysine residues.

Authors:  Gilbert Richarme; Mouadh Mihoub; Julien Dairou; Linh Chi Bui; Thibaut Leger; Aazdine Lamouri
Journal:  J Biol Chem       Date:  2014-11-21       Impact factor: 5.157

5.  DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Authors:  M Di Nottia; M Masciullo; D Verrigni; S Petrillo; A Modoni; V Rizzo; D Di Giuda; T Rizza; M Niceta; A Torraco; M Bianchi; M Santoro; A R Bentivoglio; E Bertini; F Piemonte; R Carrozzo; G Silvestri
Journal:  Clin Genet       Date:  2016-10-06       Impact factor: 4.438

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

Authors:  Vincenzo Bonifati; Patrizia Rizzu; Marijke J van Baren; Onno Schaap; Guido J Breedveld; Elmar Krieger; Marieke C J Dekker; Ferdinando Squitieri; Pablo Ibanez; Marijke Joosse; Jeroen W van Dongen; Nicola Vanacore; John C van Swieten; Alexis Brice; Giuseppe Meco; Cornelia M van Duijn; Ben A Oostra; Peter Heutink
Journal:  Science       Date:  2002-11-21       Impact factor: 47.728

7.  Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Authors:  Meike Kasten; Corinna Hartmann; Jennie Hampf; Susen Schaake; Ana Westenberger; Eva-Juliane Vollstedt; Alexander Balck; Aloysius Domingo; Franca Vulinovic; Marija Dulovic; Ingo Zorn; Harutyun Madoev; Hanna Zehnle; Christina M Lembeck; Leopold Schawe; Jennifer Reginold; Jana Huang; Inke R König; Lars Bertram; Connie Marras; Katja Lohmann; Christina M Lill; Christine Klein
Journal:  Mov Disord       Date:  2018-04-11       Impact factor: 10.338
  7 in total
  3 in total

1.  α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.

Authors:  Risa Isonaka; David S Goldstein; William Zhu; Esther Yoon; Debra Ehrlich; Alice B Schindler; Angela D Kokkinis; Marya S Sabir; Sonja W Scholz; Sara Bandres-Ciga; Cornelis Blauwendraat; Pedro Gonzalez-Alegre; Grisel Lopez; Ellen Sidransky; Derek P Narendra
Journal:  Mov Disord       Date:  2021-06-02       Impact factor: 9.698

2.  Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.

Authors:  Christine Y Kim; Thomas Wirth; Cécile Hubsch; Andrea H Németh; Volkan Okur; Mathieu Anheim; Nathalie Drouot; Christine Tranchant; Gabrielle Rudolf; Jamel Chelly; Katrina Tatton-Brown; Cornelis Blauwendraat; Jean Paul G Vonsattel; Etty Cortes; Roy N Alcalay; Wendy K Chung
Journal:  Ann Neurol       Date:  2020-08-22       Impact factor: 11.274

Review 3.  Olfactory Dysfunction in Familial and Sporadic Parkinson's Disease.

Authors:  Bruce A Chase; Katerina Markopoulou
Journal:  Front Neurol       Date:  2020-05-29       Impact factor: 4.003
  3 in total

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