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Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 9
Genetic studies of the familial forms of Parkinson’s disease (PD) have identified a number of causative genes with an established role in its pathogenesis.... 
Alternative splicing | Animal models | Phenotypes | Parkinson's disease | Next-generation sequencing | Neurodegenerative diseases | Copy number | Movement disorders
Journal Article
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2016, Volume 20, Issue 6, pp. 542 - 544.e2
Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the... 
Ophthalmology | OPHTHALMOLOGY | PEDIATRICS | RETRACTION SYNDROME | STRABISMUS PHENOTYPE | CHN1 MUTATIONS | CRANIAL DYSINNERVATION DISORDER | Phenotype | Mutation | Duane Retraction Syndrome - genetics | Humans | Non-Fibrillar Collagens - genetics | Genetic aspects | Genetic disorders | Index Medicus
Journal Article
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 03/2019, Volume 9, Issue 1, pp. 3344 - 3344
Genetic studies of the familial forms of Parkinson's disease (PD) have identified a number of causative genes with an established role in its pathogenesis.... 
ONSET PARKINSONISM | BRAIN ARTERIOVENOUS-MALFORMATIONS | GENE | ALZHEIMERS-DISEASE | GENOMEWIDE ASSOCIATION | MULTIDISCIPLINARY SCIENCES | PINK1 MUTATIONS | JUVENILE PARKINSONISM | VPS35 MUTATIONS | ALPHA-SYNUCLEIN | LOCUS
Journal Article
Open Journal of Genetics, ISSN 2162-4453, 2011, Volume 1, Issue 3, pp. 70 - 77
MUTYH is a base excision repair glycosylase responsible for correcting the G:A mismatches that arise from replication of a damaged DNA, such impairment results... 
Journal Article
Advances in Biological Chemistry, ISSN 2162-2183, 2013, Volume 3, Issue 4, pp. 408 - 417
Journal Article