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Brain, ISSN 0006-8950, 04/2015, Volume 138, Issue 4, pp. e339 - e339
Journal Article
Brain Sciences, ISSN 2076-3425, 03/2019, Volume 9, Issue 3, p. 72
In this Special Issue we bring together papers demonstrating the need for both detailed genomic and phenotypic studies to aid our scientific and clinical... 
Parkinson's disease | Next-generation sequencing | Disease | Phenotyping | Conflicts of interest | Glucosylceramidase | Hypothalamus | Mutation | Gene expression | Movement disorders | n/a
Journal Article
Kidney International, ISSN 0085-2538, 10/2018, Volume 94, Issue 4, pp. 826 - 827
Journal Article
Brain sciences, ISSN 2076-3425, 03/2019, Volume 9, Issue 3
In this Special Issue we bring together papers demonstrating the need for both detailed genomic and phenotypic studies to aid our scientific and clinical... 
Journal Article
Current Drug Targets, ISSN 1389-4501, 08/2012, Volume 13, Issue 9, pp. 1204 - 1206
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging.... 
Journal Article
CURRENT DRUG TARGETS, ISSN 1389-4501, 08/2012, Volume 13, Issue 9, pp. 1204 - 1206
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging.... 
PARKINSONISM | MITOCHONDRIAL | c19orf2 | NBIA | PLA2G6 | DEFICIENCY | FA2H | MULTIPLE-SCLEROSIS | P-TYPE ATPASE | DISEASE | ATP13A2 MUTATIONS | PHARMACOLOGY & PHARMACY | KUFOR-RAKEB SYNDROME | DYSFUNCTION | SPECTRUM
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2014, Volume 111, Issue 7, pp. 2626 - 2631
Journal Article
Movement Disorders, ISSN 0885-3185, 09/2019, Volume 34, Issue 9, pp. 1365 - 1373
Background Five to 25% of patients with PD carry glucocerebrosidase gene mutations, and 10% to 30% of glucocerebrosidase carriers will develop PD by age 80.... 
Parkinson's | Gaucher | cognition | olfaction | depression | prodromal | glucocerebrosidase | Confidence intervals | Basal ganglia | Parkinson's disease | Cognitive ability | Olfaction | Central nervous system diseases | Glucosylceramidase | Diagnosis | Mutation | Movement disorders
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2012, Volume 83, Issue 8, pp. 853 - 854
Journal Article
Gait & Posture, ISSN 0966-6362, 02/2018, Volume 60, pp. 154 - 163
Journal Article
Current drug targets, 08/2012, Volume 13, Issue 9, p. 1204
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging.... 
Brain - metabolism | Group VI Phospholipases A2 - genetics | Humans | Neurodegenerative Diseases - genetics | Mutation | Iron - metabolism
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2018, Volume 176, Issue 10, pp. 2215 - 2225
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects... 
22q11 deletion syndrome | psychosocial | quality of life | systematic review | DIAGNOSIS | PARENTS | ILLNESS | DEVELOPMENTAL-DISABILITIES | CHILDREN | EXPERIENCES | GENETICS & HEREDITY | INTELLECTUAL DISABILITIES | HEALTH-CARE | STRESS | CARDIO-FACIAL SYNDROME | Literature reviews | Systematic review | Diagnosis | Clonal deletion | Morbidity | Original
Journal Article
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