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Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
Journal Article
Case reports in genetics, ISSN 2090-6544, 2018, Volume 2018, pp. 8635698 - 8
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, . It is usually classified... 
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 10/2017, Volume 8, p. 567
During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a... 
Life Sciences | Neurons and Cognition | Moroccan patients | consanguinity | Parkinson’s disease | chromosomal microarray analysis | next-generation sequencing gene panel
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2007, Volume 39, Issue 3, pp. 366 - 372
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1051 - 1064
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 1038 - 1046
Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or... 
ZEBRAFISH | PROTEIN | DISRUPTION | DISEASE | GENETICS & HEREDITY | CALPAIN SYSTEM | LONG-TERM POTENTIATION | SEQUENCING DATA | SYNAPTIC PLASTICITY | MISSENSE MUTATIONS | BRAIN | Causes of | Paraplegia | Genetic aspects | Gene mutations | Health aspects
Journal Article
Parkinson's Disease, ISSN 2090-8083, 2017, Volume 2017, pp. 1 - 7
Background. The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson’s disease (PD) identified to date. This mutation, reported in both... 
Journal Article
BioMed Research International, ISSN 2314-6133, 2016, Volume 2016, pp. 1 - 5
Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease. Ten of fifteen causative genes linked to familial... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2014, Volume 51, Issue 2, pp. 137 - 142
Journal Article
Journal Article