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Parkinsonism and Related Disorders, ISSN 1353-8020, 04/2019, Volume 61, pp. 101 - 105
The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset... 
Age of onset | Huntington's disease | Late-onset Huntington's disease | CLINICAL NEUROLOGY | AGE | FEATURES | Genetic research | Medical genetics
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 12/2005, Volume 280, Issue 48, pp. 39914 - 39924
The CATERPILLER (CLR, also NOD and NLR) proteins share structural similarities with the nucleotide binding domain ( NBD)leucine- rich repeat (LRR) superfamily... 
ENDOTOXIN-TOLERANT CELLS | CROHNS-DISEASE | AUTOINFLAMMATORY DISORDERS | HOST RECOGNITION | NEGATIVE REGULATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | BACTERIAL PEPTIDOGLYCAN | NF-KAPPA-B | CIAS1 MUTATIONS | CUTTING EDGE | FAMILY | Protein Kinases - metabolism | Tumor Necrosis Factor-alpha - metabolism | Phosphorylation | Immunoprecipitation | Luciferases - metabolism | Humans | Transcriptional Activation | Interleukin-1 Receptor-Associated Kinases | Monocytes - metabolism | NF-kappa B - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Transfection | Retroviridae - genetics | Antigens, Differentiation - metabolism | Toll-Like Receptors - metabolism | Caspases - chemistry | Mycobacterium tuberculosis - metabolism | Genes, Reporter | RNA - metabolism | Protein Structure, Tertiary | Cell Line | Promoter Regions, Genetic | Cytokines - metabolism | Enzyme-Linked Immunosorbent Assay | Signal Transduction | Nuclear Pore Complex Proteins - metabolism | TNF Receptor-Associated Factor 2 - metabolism | Inflammation | Cytoskeletal Proteins - chemistry | Myeloid Differentiation Factor 88 | Reverse Transcriptase Polymerase Chain Reaction | Plasmids - metabolism | Pyrin | Amino Acid Motifs | Transcription Factor RelA - metabolism | TNF Receptor-Associated Factor 6 - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Intracellular Signaling Peptides and Proteins - physiology | RNA-Binding Proteins - metabolism | Receptors, Immunologic - metabolism | RNA, Small Interfering - metabolism
Journal Article
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, Víctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and Currò, Aurora and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Elizabeth and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and ... and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
We delineate a -related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in (28... 
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Life Sciences | Genetics | Human genetics | Report
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