المؤلفون: von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio DJ, Sisodiya, Sanjay M, Helbig, Ingo, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group

المصدر: Neurology, vol 89, iss 4

مصطلحات موضوعية: Male, Dynamins, Adolescent, Intellectual and Developmental Disabilities (IDD), DNA Mutational Analysis, Clinical Sciences, Neurodegenerative, GTP Phosphohydrolases, Mitochondrial Proteins, Cohort Studies, Young Adult, Short Stature Homeobox Protein, Clinical Research, Models, Genetics, 2.1 Biological and endogenous factors, Humans, Aetiology, Child, Preschool, EuroEPINOMICS-RES NLES Working Group, Pediatric, Epi4K Consortium, Homeodomain Proteins, Brain Diseases, Epilepsy, Neurology & Neurosurgery, Siblings, Neurosciences, Molecular, Infant, Brain Disorders, Phenotype, Mutation, Female, Cognitive Sciences, Synaptic Vesicles, Microtubule-Associated Proteins

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3b3d8b5330006af8c175301cc18c5ca5Test
https://escholarship.org/uc/item/6fz8f4r5Test

المؤلفون: Palmer, Elizabeth A., Nielsen, Truman, Peirano, Patricia, Nguyen, Anna T., Vo, Alex, Nguyen, Aivan, Jackson, Stephen, Finlayson, Tyler, Sauerwein, Rebecca, Marsh, Katie, Edwards, Issac, Wilmot, Beth, Engle, John, Peterson, John, Maier, Tom, Machida, Curtis A.

مصطلحات موضوعية: Base Sequence, Genotype, Genes, Bacterial, Child, Preschool, RNA, Ribosomal, 16S, Humans, Streptococcus, Pilot Projects, Dental Caries, Child, Polymerase Chain Reaction, Article, DNA Primers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d0f9fba0ab5be924a853b09ddd2cae69Test
https://europepmc.org/articles/PMC3828076Test/

المؤلفون: Vetro, Annalisa, Nielsen, Hang N, Holm, Rikke, Hevner, Robert F, Parrini, Elena, Powis, Zoe, Møller, Rikke S, Bellan, Cristina, Simonati, Alessandro, Lesca, Gaétan, Helbig, Katherine L, Palmer, Elizabeth E, Mei, Davide, Ballardini, Elisa, Van Haeringen, Arie, Syrbe, Steffen, Leuzzi, Vincenzo, Cioni, Giovanni, Curry, Cynthia J, Costain, Gregory, Santucci, Margherita, Chong, Karen, Mancini, Grazia M S, Clayton-Smith, Jill, Bigoni, Stefania, Scheffer, Ingrid E, Dobyns, William B, Vilsen, Bente, Guerrini, Renzo, Sanlaville, Damien, Sachdev, Rani, Andrews, Ian, Mari, Francesco, Cavalli, Anna, Barba, Carmen, De Maria, Beatrice, Garani, Giampaolo, Lemke, Johannes R, Mastrangelo, Mario, Tam, Emily, Donner, Elizabeth, Branson, Helen, Monteiro, Fabiola P, Kok, Fernando, Howell, Katherine B, Leech, Stephanie, Mefford, Heather, Muir, Alison

المساهمون: Clinical Genetics

المصدر: Brain, 144, 1435-1450. OXFORD UNIV PRESS
Vetro, A, Nielsen, H N, Holm, R, Hevner, R F, Parrini, E, Powis, Z, Møller, R S, Bellan, C, Simonati, A, Lesca, G, Helbig, K L, Palmer, E E, Mei, D, Ballardini, E, Haeringen, A V, Syrbe, S, Leuzzi, V, Cioni, G, Curry, C J, Costain, G, Santucci, M, Chong, K, Mancini, G M S, Clayton-Smith, J, A-Collaborators, A A, Bigoni, S, Scheffer, I E, Dobyns, W B, Vilsen, B & Guerrini, R 2021, ' ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria ', Brain : a journal of neurology, vol. 144, no. 5, pp. 1435-1450 . https://doi.org/10.1093/brain/awab052Test
Vetro, A, Nielsen, H N, Holm, R, Hevner, R F, Parrini, E, Powis, Z, Moller, R S, Bellan, C, Simonati, A, Lesca, G, Helbig, K L, Palmer, E E, Mei, D, Ballardini, E, Van Haeringen, A, Syrbe, S, Leuzzi, V, Cioni, G, Curry, C J, Costain, G, Santucci, M, Chong, K, Mancini, G M S, Clayton-Smith, J, Bigoni, S, Scheffer, I E, Dobyns, W B, Vilsen, B, Guerrini, R & ATP1A2/A3-collaborators 2021, ' ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria ', Brain : a journal of neurology, vol. 144, no. 5, pp. 1435-1450 . https://doi.org/10.1093/brain/awab052Test
Brain, 144(5), 1435-1450. Oxford University Press

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Microcephaly, Na+/K+-ATPase pump, CHILDHOOD, PHENOTYPE, 0302 clinical medicine, Na + /K + -ATPase pump, ATP1A3, Chlorocebus aethiops, Polymicrogyria, polymicrogyria, Child, NEURONS, Familial hemiplegic migraine, Brain Diseases, FAMILIAL HEMIPLEGIC MIGRAINE, ATP1A2, 3. Good health, Phenotype, Child, Preschool, COS Cells, Female, Sodium-Potassium-Exchanging ATPase, medicine.symptom, medicine.medical_specialty, Adolescent, Genotype, NA,K-ATPASE, Socio-culturale, 03 medical and health sciences, Atrophy, ALTERNATING HEMIPLEGIA, medicine, Animals, Humans, developmental and epileptic encephalopathy, SPECTRUM, Epilepsy, Cerebellar ataxia, business.industry, Alternating hemiplegia of childhood, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, DE-NOVO MUTATIONS, SUBUNIT, Mutation, Na plus /K plus -ATPase pump, Neurology (clinical), business, Brain morphogenesis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deaaf2fa48f200740a3063697b700bb1Test