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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 467 - 477
Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but... 
TRANSPORTER | MANGANESE | CIRRHOSIS | GENES | GENETICS & HEREDITY | IDENTIFICATION | ZNT-1 | EXPRESSION | ZINC | FAMILY | Manganese Poisoning - genetics | Zinc Transporter 8 | Humans | Middle Aged | Molecular Sequence Data | Male | Brain - metabolism | Cation Transport Proteins - metabolism | Membrane Transport Proteins - genetics | Chromosome Mapping - methods | Cation Transport Proteins - genetics | Female | Membrane Transport Proteins - metabolism | Parkinsonian Disorders - genetics | Tumor Cells, Cultured | Frameshift Mutation - genetics | Amino Acid Sequence | Genetic Predisposition to Disease | Liver - metabolism | Genes, Recessive | Hep G2 Cells | Immunohistochemistry - methods | Homozygote | Sequence Alignment - methods | Phenotype | Manganese - metabolism | Metabolic Diseases - metabolism | Metabolic Diseases - genetics | Aged | Manganese Poisoning - metabolism | Parkinsonism | Liver diseases | Gene mutations | Causes of | Genetic aspects | Dystonia | Research | Manganese compounds | Physiology | Mutation | Genomics | Neurological disorders | Index Medicus | Brain | Basal ganglia | Central nervous system diseases | Frameshift mutation | Nervous system | Cytosol | Fatty liver | Polycythemia | Substrate specificity | Chelation | Cations | Metabolic pathways | Gene mapping | steatosis | Movement disorders | Manganese
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, pp. e28936 - e28936
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite... 
POSTERIOR COLUMN ATAXIA | INTERACTING PROTEIN | TRANSCRIPTIONAL COACTIVATORS | BIOLOGY | C-MYC | STATUS-EPILEPTICUS | DEATH | TRANSFER-RNA | MUTATIONS | RETINITIS-PIGMENTOSA | ADAPTER MOLECULE | Seizures - genetics | Microtubule-Associated Proteins - genetics | CRADD Signaling Adaptor Protein | Humans | Child, Preschool | Infant | Amino Acyl-tRNA Synthetases | Receptors, Virus - genetics | Intellectual Disability - genetics | Amish - genetics | Ethnic Groups - genetics | Usher Syndromes - genetics | Membrane Transport Proteins - genetics | Chromosome Mapping - methods | Epilepsy - genetics | Parkinsonian Disorders - genetics | Nuclear Proteins - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Genetic Predisposition to Disease - genetics | Genetic Association Studies - methods | Dopamine Plasma Membrane Transport Proteins - genetics | Exome - genetics | Polymorphism, Single Nucleotide | Sequence Analysis, DNA - methods | Genetic aspects | Nucleotide sequencing | Single nucleotide polymorphisms | DNA sequencing | Neurosciences | Disease | Genes | Business improvement districts | Mapping | Biology | Single-nucleotide polymorphism | Gene polymorphism | Population genetics | Data bases | Gene sequencing | Coupling (molecular) | Enterprise zones | Lists | Children | Pathogens | Nuclear electric power generation | Pathogenicity | Medicine | Hospitals | DNA microarrays | Genotyping | Mutation | Gene mapping | Polymorphism | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 2007, Volume 68, Issue 12, pp. 916 - 922
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 3, pp. 274 - 282
Journal Article
by Lesage, Suzanne and Drouet, Valérie and Majounie, Elisa and Deramecourt, Vincent and Jacoupy, Maxime and Nicolas, Aude and Cormier-Dequaire, Florence and Hassoun, Sidi Mohamed and Pujol, Claire and Ciura, Sorana and Erpapazoglou, Zoi and Usenko, Tatiana and Maurage, Claude-Alain and Sahbatou, Mourad and Liebau, Stefan and Ding, Jinhui and Bilgic, Basar and Emre, Murat and Erginel-Unaltuna, Nihan and Guven, Gamze and Tison, François and Tranchant, Christine and Vidailhet, Marie and Corvol, Jean Christophe and Corvol, Jean-Christophe and Krack, Paul and Leutenegger, Anne-Louise and Nalls, Michael A and Hernandez, Dena G and Heutink, Peter and Gibbs, J. Raphael and Hardy, John and Wood, Nicholas W and Gasser, Thomas and Durr, Alexandra and Deleuze, Jean-François and Tazir, Meriem and Destée, Alain and Lohmann, Ebba and Kabashi, Edor and Singleton, Andrew B and Singleton, Andrew and Corti, Olga and Brice, Alexis and Agid, Yves and Anheim, Mathieu and Bonnet, Anne-Marie and Borg, Michel and Broussolle, Emmanuel and Damier, Philippe and Dürr, Alexandra and Durif, Frank and Durif, Franck and Klebe, Stephan and Martinez, María and Martinez, Maria and Pollak, Pierre and Rascol, Olivier and Vérin, Marc and Viallet, François and Arepalli, Sampath and Barker, Roger A and Ben-Shlomo, Yoav and Berg, Daniela and Bettella, Francesco and Bhatia, Kailash and de Bie, Rob M.A and Biffi, Alessandro and Bloem, Bastiaan R and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chen, Honglei and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Counsell, Carl and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Dong, Jing and Edkins, Sarah and Escott-Price, Valentina and Evans, Jonathan R and Foltynie, Thomas and Gao, Jianjun and Gardner, Michelle and Goate, Alison and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and ... and French Parkinson's Disease Genetics Study (PDG) and International Parkinson's Disease Genomics Consortium (IPDGC)
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 500 - 513
Journal Article
Neuron, ISSN 0896-6273, 11/2006, Volume 52, Issue 4, pp. 587 - 593
Mutations in underlie an autosomal-dominant, inherited form of Parkinson's disease (PD) that mimics the clinical features of the common “sporadic” form of PD.... 
HUMDISEASE | MOLNEURO | SIGNALING | AUTOSOMAL-DOMINANT PARKINSONISM | MECHANISM | TRANSCRIPTION | DISEASE | NEURONS | SYNUCLEIN | MUTATIONS | OUTGROWTH | PATHOLOGY | NEUROSCIENCES | Substantia Nigra - physiopathology | Substantia Nigra - pathology | Humans | Lysosomes - genetics | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | tau Proteins - metabolism | Apoptosis - genetics | Cell Shape - genetics | Substantia Nigra - metabolism | Nerve Degeneration - metabolism | Brain - metabolism | Parkinsonian Disorders - metabolism | Lysosomes - metabolism | tau Proteins - genetics | Lysosomes - pathology | Parkinsonian Disorders - genetics | Inclusion Bodies - metabolism | Animals, Newborn | Parkinsonian Disorders - physiopathology | Genetic Predisposition to Disease - genetics | Brain - physiopathology | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Rats | Neurites - metabolism | Mutation - genetics | Rats, Sprague-Dawley | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Neurites - pathology | Inclusion Bodies - genetics | Animals | Brain - pathology | Inclusion Bodies - pathology | Mice | Neurons | Genetic aspects | Parkinson's disease | Proteins | Pathology | Cell culture | Dopamine | Microscopy | Plasmids | Software | Mutation | Kinases | Polyclonal antibodies | Index Medicus
Journal Article
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 05/2016, Volume 7, Issue 1, pp. 11601 - 11601
Journal Article