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Nature genetics, ISSN 1061-4036, 12/2012, Volume 44, Issue 12, pp. 1294 - 1301
Journal Article
Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 625 - 636
cerebral palsy | inborn errors of metabolism | spasticity | ataxia | dystonia | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - diagnostic imaging | Monosaccharide Transport Proteins - deficiency | Lesch-Nyhan Syndrome - therapy | Spastic Paraplegia, Hereditary - diagnosis | Humans | Movement Disorders - diagnosis | Folic Acid Deficiency - therapy | Lesch-Nyhan Syndrome - genetics | Cerebral Palsy - diagnosis | Multiple Carboxylase Deficiency - genetics | Carbohydrate Metabolism, Inborn Errors - therapy | Brain Diseases, Metabolic, Inborn - genetics | Dyskinesias - genetics | Folic Acid Deficiency - genetics | Multiple Carboxylase Deficiency - physiopathology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Monosaccharide Transport Proteins - genetics | Chorea - physiopathology | Creatine - genetics | Hyperargininemia - physiopathology | Dyskinesias - physiopathology | Dystonia - physiopathology | Pelizaeus-Merzbacher Disease - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Carbohydrate Metabolism, Inborn Errors - physiopathology | Magnetic Resonance Imaging | Hyperargininemia - diagnosis | Movement Disorders - physiopathology | Dyskinesias - diagnosis | Hyperargininemia - genetics | Ataxia Telangiectasia - genetics | Lesch-Nyhan Syndrome - diagnosis | Brain Diseases, Metabolic, Inborn - therapy | Muscle Spasticity - physiopathology | Movement Disorders - genetics | Multiple Carboxylase Deficiency - diagnosis | Multiple Carboxylase Deficiency - therapy | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Spastic Paraplegia, Hereditary - genetics | Cerebral Palsy - physiopathology | Lesch-Nyhan Syndrome - physiopathology | Mental Retardation, X-Linked - physiopathology | Carbohydrate Metabolism, Inborn Errors - genetics | Brain Diseases, Metabolic, Inborn - diagnosis | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - diagnosis | Hyperargininemia - therapy | Creatine - deficiency | Thyroid Nuclear Factor 1 - genetics | Pelizaeus-Merzbacher Disease - therapy | Spastic Paraplegia, Hereditary - physiopathology | Mental Retardation, X-Linked - therapy | Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - physiopathology | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Ataxia - physiopathology | Ataxia Telangiectasia - therapy | Diagnosis, Differential | Pelizaeus-Merzbacher Disease - genetics | Spastic Paraplegia, Hereditary - therapy | Brain Diseases, Metabolic, Inborn - physiopathology | Folic Acid Deficiency - physiopathology | Dyskinesias - therapy | Movement Disorders - therapy | Pelizaeus-Merzbacher Disease - physiopathology | Folic Acid Deficiency - diagnosis | Adenylyl Cyclases - genetics | Cerebral palsy | Development and progression | Medical genetics | Neuroimaging | Genetic counseling | Etiology | Chorea | Spasticity | Ataxia | Dystonia | Children | Paralysis | Neurodevelopmental disorders | Metabolic disorders | Index Medicus
Journal Article
by Cooper, Jason D and Simmonds, Matthew J and Walker, Neil M and Burren, Oliver and Brand, Oliver J and Guo, Hui and Wallace, Chris and Stevens, Helen and Coleman, Gillian and Franklyn, Jayne A and Todd, John A and Gough, Stephen C. L and Aerts, Jan and Ahmad, Tariq and Arbury, Hazel and Attwood, Anthony and Auton, Adam and Ball, Stephen G and Balmforth, Anthony J and Barnes, Chris and Barrett, Jeffrey C and Barroso, Inês and Barton, Anne and Bennett, Amanda J and Bhaskar, Sanjeev and Blaszczyk, Katarzyna and Bowes, John and Braund, Peter S and Bredin, Francesca and Breen, Gerome and Brown, Morris J and Bruce, Ian N and Bull, Jaswinder and Burton, John and Byrnes, Jake and Caesar, Sian and Cardin, Niall and Clee, Chris M and Coffey, Alison J and Connell, John M.C and Conrad, Donald F and Dominiczak, Anna F and Downes, Kate and Drummond, Hazel E and Dudakia, Darshna and Dunham, Andrew and Ebbs, Bernadette and Eccles, Diana and Edkins, Sarah and Edwards, Cathryn and Elliot, Anna and Emery, Paul and Evans, David M and Evans, Gareth and Eyre, Steve and Farmer, Anne and Nicol Ferrier, I and Flynn, Edward and Forbes, Alistair and Forty, Liz and Frayling, Timothy M and Freathy, Rachel M and Giannoulatou, Eleni and Gibbs, Polly and Gilbert, Paul and Gordon-Smith, Katherine and Gray, Emma and Green, Elaine and Groves, Chris J and Grozeva, Detelina and Gwilliam, Rhian and Hall, Anita and Hammond, Naomi and Hardy, Matt and Harrison, Pile and Hassanali, Neelam and Hebaishi, Husam and Hines, Sarah and Hinks, Anne and Hitman, Graham A and Hocking, Lynne and Holmes, Chris and Howard, Eleanor and Howard, Philip and Howson, Joanna M.M and Hughes, Debbie and Hunt, Sarah and Isaacs, John D and Jain, Mahim and Jewell, Derek P and Johnson, Toby and Jolley, Jennifer D and Jones, Ian R and Jones, Lisa A and Kirov, George and Langford, Cordelia F and Lango-Allen, Hana and Mark Lathrop, G and Lee, James and Lee, Kate L and ... and Wellcome Trust Case Control and Wellcome Trust Case Control Consortium
Human molecular genetics, ISSN 0964-6906, 12/2012, Volume 21, Issue 23, pp. 5202 - 5208
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2008, Volume 45, Issue 1, pp. 1 - 14
Journal Article