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Journal of Strength and Conditioning Research, ISSN 1064-8011, 06/2018, p. 1
ABSTRACTPapandreou, A, Philippou, A, Zacharogiannis, E, and Maridaki, M. Physiological adaptations to high-intensity interval and continuous training in kayak... 
Journal Article
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Journal Article
Analytical Chemistry, ISSN 0003-2700, 09/2017, Volume 89, Issue 17, pp. 8892 - 8900
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2016, Volume 58, Issue 4, pp. 416 - 420
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3096 - 3102
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2016, Volume 58, Issue 4, pp. 416 - 420
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 2015, Volume 13, Issue 4, pp. 155 - 167
  Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term used to clinically describe a group of neurologic conditions associated with high... 
neurodegeneration | fatty acid hydroxylase | mitochondrial membrane protein | β-Propeller protein | phospholipase A2 | Proteins | Enzymes | Genotype & phenotype | Fecal incontinence | Brain research | Nuclear magnetic resonance--NMR | Neurodegeneration | Parkinsons disease | Stem cells | Homeostasis | Metabolism | Gene therapy
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 1, pp. e55 - e66
OBJECTIVETo characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy.... 
ENCEPHALOPATHY | MIGRATING PARTIAL SEIZURES | SPECTRUM | QUINIDINE THERAPY | KCNT1 MUTATION | INFANCY | GAIN | CLINICAL NEUROLOGY | POTASSIUM CHANNEL
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2016, Volume 53, Issue 5, p. 310
BackgroundWe sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe... 
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3096 - 3102
Journal Article
Nature genetics, ISSN 1061-4036, 05/2017, Volume 49, Issue 6, pp. 969 - 969
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena... 
Consortia | Histone methyltransferase | Dystonia | Mutation | Age
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2017, Volume 49, Issue 6, pp. 969 - 969
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2017, Volume 49, Issue 6, p. 969
Journal Article
Journal Article
Child's Nervous System, ISSN 0256-7040, 8/2014, Volume 30, Issue 8, pp. 1467 - 1469
Journal Article
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