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PloS one, ISSN 1932-6203, 2012, Volume 7, Issue 1, p. e28936
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite... 
DOMAIN | POSTERIOR COLUMN ATAXIA | INTERACTING PROTEIN | MULTIDISCIPLINARY SCIENCES | C-MYC | SNIP1 | DEATH | TRANSFER-RNA | MUTATIONS | IDENTIFICATION | DISCOVERY | 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 | Haplotypes | Neurosciences | Disease | Genes | Business improvement districts | Mapping | Biology | Single-nucleotide polymorphism | Gene polymorphism | Population genetics | Gene sequencing | Coupling (molecular) | Databases | Enterprise zones | Lists | Children | Pathogens | Nuclear electric power generation | Pathogenicity | Medicine | Hospitals | DNA microarrays | Genotyping | Mutation | Gene mapping | Polymorphism
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2018, Volume 115, Issue 28, pp. E6640 - E6649
.... The strongest genetic risk factor for sporadic AD is the ε4 allele of Apolipoprotein E (ApoE4). Previous studies have shown that ApoE4 potentiates presymptomatic endosomal dysfunction and defective endocytic clearance of amyloid beta... 
Histone deacetylase | Trichostatin A | Amyloid beta | ApoE4 | exchanger | Na+/H+ exchanger | CHRISTIANSON SYNDROME | HUMAN BRAIN | trichostatin A | MULTIDISCIPLINARY SCIENCES | SPORADIC ALZHEIMERS-DISEASE | histone deacetylase | SYNAPTIC PLASTICITY | amyloid beta | APOLIPOPROTEIN-E | LYSOSOMAL DYSFUNCTION | DOWN-SYNDROME | A-BETA | GENE-EXPRESSION | PRECURSOR PROTEIN | Microcephaly - genetics | Epigenesis, Genetic | Humans | Astrocytes - pathology | Epilepsy - metabolism | Endosomes - metabolism | Alzheimer Disease - pathology | Intellectual Disability - metabolism | Amyloid beta-Peptides - genetics | Amyloid beta-Peptides - metabolism | Ataxia - drug therapy | Genetic Diseases, X-Linked - genetics | Ataxia - genetics | Ataxia - metabolism | Microcephaly - drug therapy | Ataxia - pathology | Ocular Motility Disorders - pathology | Tumor Suppressor Proteins - metabolism | Apolipoprotein E4 - metabolism | Endosomes - genetics | Histone Deacetylases - genetics | Ocular Motility Disorders - metabolism | Intellectual Disability - pathology | Alzheimer Disease - drug therapy | Receptors, LDL - metabolism | Mice, Knockout | Genetic Diseases, X-Linked - pathology | Epilepsy - drug therapy | Histone Deacetylase Inhibitors - pharmacology | Mice | Astrocytes - metabolism | Hydrogen-Ion Concentration | Apolipoprotein E4 - genetics | Ocular Motility Disorders - genetics | Intellectual Disability - genetics | Sodium-Hydrogen Exchangers - metabolism | Genetic Diseases, X-Linked - drug therapy | Microcephaly - pathology | Tumor Suppressor Proteins - genetics | Epilepsy - genetics | Sodium-Hydrogen Exchangers - genetics | Receptors, LDL - genetics | Microcephaly - metabolism | Histone Deacetylases - metabolism | Endosomes - pathology | Genetic Diseases, X-Linked - metabolism | Intellectual Disability - drug therapy | Ocular Motility Disorders - drug therapy | Animals | Alzheimer Disease - metabolism | Alzheimer Disease - genetics | Epilepsy - pathology | Physiological aspects | Epigenetic inheritance | Glycoproteins | Genetic aspects | Observations | Astrocytes | Biological Sciences | PNAS Plus | H+ exchanger | Na+
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in medicine, ISSN 1530-0366, 2018, Volume 21, Issue 2, pp. 398 - 408
Journal Article
by Marenholz, Ingo and Esparza-Gordillo, Jorge and Rüschendorf, Franz and Bauerfeind, Anja and Strachan, David P and Spycher, Ben D and Baurecht, Hansjörg and Margaritte-Jeannin, Patricia and Sääf, Annika and Kerkhof, Marjan and Ege, Markus and Baltic, Svetlana and Matheson, Melanie C and Li, Jin and Michel, Sven and Ang, Wei Q and McArdle, Wendy and Arnold, Andreas and Homuth, Georg and Demenais, Florence and Bouzigon, Emmanuelle and Söderhäll, Cilla and Pershagen, Göran and de Jongste, Johan C and Postma, Dirkje S and Braun-Fahrländer, Charlotte and Horak, Elisabeth and Ogorodova, Ludmila M and Puzyrev, Valery P and Bragina, Elena Yu and Hudson, Thomas J and Morin, Charles and Duffy, David L and Marks, Guy B and Robertson, Colin F and Montgomery, Grant W and Musk, Bill and Thompson, Philip J and Martin, Nicholas G and James, Alan and Sleiman, Patrick and Toskala, Elina and Rodriguez, Elke and Fölster-Holst, Regina and Franke, Andre and Lieb, Wolfgang and Gieger, Christian and Heinzmann, Andrea and Rietschel, Ernst and Keil, Thomas and Cichon, Sven and Nöthen, Markus M and Pennell, Craig E and Sly, Peter D and Schmidt, Carsten O and Matanovic, Anja and Schneider, Valentin and Heinig, Matthias and Hübner, Norbert and Holt, Patrick G and Lau, Susanne and Kabesch, Michael and Weidinger, Stefan and Hakonarson, Hakon and Ferreira, Manuel A. R and Laprise, Catherine and Freidin, Maxim B and Genuneit, Jon and Koppelman, Gerard H and Melén, Erik and Dizier, Marie- Hélène and Henderson, A John and Lee, Young Ae
Nature communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 8804
textabstractEczema often precedes the development of asthma in a disease course called the a 'atopic march'. To unravel the genes underlying this... 
CHROMOSOME 11Q13 | JUVENILE MYOCLONIC EPILEPSY | DERMATITIS | FOOD ALLERGY | GENOMEWIDE ASSOCIATION | MULTIDISCIPLINARY SCIENCES | RISK | FILAGGRIN MUTATIONS | BIRTH COHORT | HAY-FEVER | CHILDHOOD ASTHMA | Phenotypes | Interleukin 4 | Eczema | Chromosome 6 | Skin diseases | Chromosome 12 | Allergic diseases | Genomes | Children | Loci | Asthma | Atopy
Journal Article
American journal of human genetics, ISSN 0002-9297, 2016, Volume 99, Issue 3, pp. 695 - 703
Journal Article
Scientific reports, ISSN 2045-2322, 2017, Volume 7, Issue 1, pp. 8089 - 16
Journal Article
Journal Article