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Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2016, Volume 18, Issue 3, pp. 239 - 248
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2009, Volume 40, Issue 4, pp. 245 - 252
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1348 - 1354
Aminoacyl‐transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl‐tRNA synthetase (AARS)... 
microcephaly | hypomyelination | transfer RNA | aminoacylation defect | AARS | MARIE-TOOTH-DISEASE | NEUROPATHY | AARS MUTATION | ATROPHY | GENETICS & HEREDITY | MEDICINE | BINDING | Spastic Paraplegia, Hereditary - genetics | Lennox Gastaut Syndrome - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Infant | Electroencephalography | Amino Acid Sequence - genetics | Spasms, Infantile - genetics | Aminoacylation - genetics | Lennox Gastaut Syndrome - genetics | Charcot-Marie-Tooth Disease - genetics | Alanine-tRNA Ligase - genetics | Microcephaly - pathology | Female | Protein Biosynthesis - genetics | Spasms, Infantile - complications | Spastic Paraplegia, Hereditary - pathology | Siblings | Microcephaly - diagnostic imaging | Spasms, Infantile - diagnostic imaging | Charcot-Marie-Tooth Disease - pathology | Mutation - genetics | Whole Exome Sequencing | Spasms, Infantile - pathology | Lennox Gastaut Syndrome - pathology | Spastic Paraplegia, Hereditary - complications | Lennox Gastaut Syndrome - complications | Medical research | Career development | Nervous system diseases | Neurosciences | Ligases | Encephalopathy | Epilepsy | Medicine, Experimental | Amino acids | Protein biosynthesis | Transfer RNA | Aminoacylation | tRNA | Spasticity | Microcephaly | Ribonucleic acid--RNA | Neurological diseases | Microencephaly | Alanine-tRNA ligase | Charcot-Marie-Tooth disease | Mutation | Index Medicus
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
Journal Article
Frontiers in Bioscience, ISSN 1093-9946, 2006, Volume 11, Issue 2, pp. 1854 - 1860
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Journal Article