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Literature DB >> 14985393

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function.

P J Lockhart, S Lincoln, M Hulihan, J Kachergus, K Wilkes, G Bisceglio, D C Mash, M J Farrer.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2004 PMID： 14985393 PMCID： PMC1735689 DOI： 10.1136/jmg.2003.011106

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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22 in total

1. PINK1 mutation heterozygosity and the risk of Parkinson's disease.

Authors: M Toft; R Myhre; L Pielsticker; L R White; J O Aasly; M J Farrer
Journal: J Neurol Neurosurg Psychiatry Date: 2007-01 Impact factor: 10.154

Review 2. Synaptic protein alterations in Parkinson's disease.

Authors: Ilse S Pienaar; David Burn; Christopher Morris; David Dexter
Journal: Mol Neurobiol Date: 2011-12-29 Impact factor: 5.590

Review 3. Diagnosis and treatment of Parkinson disease: molecules to medicine.

Authors: Joseph M Savitt; Valina L Dawson; Ted M Dawson
Journal: J Clin Invest Date: 2006-07 Impact factor: 14.808

4. Mutations in DJ-1 are rare in familial Parkinson disease.

Authors: Nathan Pankratz; Michael W Pauciulo; Veronika E Elsaesser; Diane K Marek; Cheryl A Halter; Joanne Wojcieszek; Alice Rudolph; Clifford W Shults; Tatiana Foroud; William C Nichols
Journal: Neurosci Lett Date: 2006-09-25 Impact factor: 3.046

Review 5. The neuropathology of genetic Parkinson's disease.

Authors: Markos Poulopoulos; Oren A Levy; Roy N Alcalay
Journal: Mov Disord Date: 2012-03-26 Impact factor: 10.338

6. Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism.

Authors: A Krygowska-Wajs; J M Kachergus; M M Hulihan; M J Farrer; J A Searcy; J Booij; H W Berendse; E Ch Wolters; Z K Wszolek
Journal: J Neural Transm (Vienna) Date: 2005-03-23 Impact factor: 3.575

7. Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Authors: David J Amor; Sarah E M Stephenson; Mirna Mustapha; Martin A Mensah; Charlotte W Ockeloen; Wei Shern Lee; Rick M Tankard; Dean G Phelan; Marwan Shinawi; Arjan P M de Brouwer; Rolph Pfundt; Cari Dowling; Tomi L Toler; V Reid Sutton; Emanuele Agolini; Martina Rinelli; Rossella Capolino; Diego Martinelli; Giuseppe Zampino; Miroslav Dumić; William Reardon; Charles Shaw-Smith; Richard J Leventer; Martin B Delatycki; Tjitske Kleefstra; Stefan Mundlos; Geert Mortier; Melanie Bahlo; Nicola J Allen; Paul J Lockhart
Journal: Am J Hum Genet Date: 2019-04-11 Impact factor: 11.025