المؤلفون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Hanna MG, Bugiardini E, Hostettler I, O'Callaghan B, Khan A, Cortese A, O'Connor E, Yau WY, Bourinaris T, Kaiyrzhanov R, Chelban V, Madej M, Diana MC, Vari MS, Pedemonte M, Bruno C, Balagura G, Scala M, Fiorillo C, Nobili L, Malintan NT, Zanetti MN, Krishnakumar SS, Lignani G, Jepson JEC, Broda P, Baldassari S, Rossi P, Fruscione F, Madia F, Traverso M, De-Marco P, Pérez-Dueñas B, Munell F, Kriouile Y, El-Khorassani M, Karashova B, Avdjieva D, Kathom H, Tincheva R, Van-Maldergem L, Nachbauer W, Boesch S, Gagliano A, Amadori E, Goraya JS, Sultan T, Kirmani S, Ibrahim S, Jan F, Mine J, Banu S, Veggiotti P, Zuccotti GV, Ferrari MD, Van Den Maagdenberg AMJ, Verrotti A, Marseglia GL, Savasta S, Soler MA, Scuderi C, Borgione E, Chimenz R, Gitto E, Dipasquale V, Sallemi A, Fusco M, Cuppari C, Cutrupi MC, Ruggieri M, Cama A, Capra V, Mencacci NE, Boles R, Gupta N, Kabra M, Papacostas S, Zamba-Papanicolaou E, Dardiotis E, Maqbool S, Rana N, Atawneh O, Lim SY, Shaikh F, Koutsis G, Breza M, Coviello DA, Dauvilliers YA, AlKhawaja I, AlKhawaja M, Al-Mutairi F, Stojkovic T, Ferrucci V, Zollo M, Alkuraya FS, Kinali M, Sherifa H, Benrhouma H, Turki IBY, Tazir M, Obeid M, Bakhtadze S, Saadi NW, Zaki MS, Triki CC, Benfenati F, Gustincich S, Kara M, Belcastro V, Specchio N, Capovilla G, Karimiani EG, Salih AM, Okubadejo NU, Ojo OO, Oshinaike OO, Oguntunde O, Wahab K, Bello AH, Abubakar S, Obiabo Y, Nwazor E, Ekenze O, Williams U, Iyagba A, Taiwo L, Komolafe M, Senkevich K, Shashkin C, Zharkynbekova N, Koneyev K, Manizha G, Isrofilov M, Guliyeva U, Salayev K, Khachatryan S, Rossi S, Silvestri G, Haridy N, Ramenghi LA, Xiromerisiou G, David E, Aguennouz M, Fidani L, Spanaki C, Tucci A.

المساهمون: Salpietro, V, Dixon, Cl, Guo, H, Bello, Od, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Männikkö, R, Manole, A, Brusco, A, Grosso, E, Ferrero, Gb, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, Kg, Santiago-Sim, T, Person, Re, Cho, Mt, Willaert, R, Yoo, Y, Chae, Jh, Quan, Y, Wu, H, Wang, T, Bernier, Ra, Xia, K, Blesson, A, Jain, M, Motazacker, Mm, Jaeger, B, Schneider, Al, Boysen, K, Muir, Am, Myers, Ct, Gavrilova, Rh, Gunderson, L, Schultz-Rogers, L, Klee, Ew, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Peñas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, SYNAPS Study, Group, Raspall-Chaure, M, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, Jn, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, Hc, Scheffer, Ie, Clayton-Smith, J, Macaya, A, Rothman, Je, Eichler, Ee, Kullmann, Dm, Houlden, H, Hanna, Mg, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E

مصطلحات موضوعية: Adolescent, Adult, Brain, Child, Preschool, Cohort Studie, Female, Heterozygote, Human, Infant, Intellectual Disability, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Neurodevelopmental Disorder, Receptors, AMPA, Young Adult

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31300657; info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; firstpage:1; lastpage:16; numberofpages:16; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/973820Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
http://hdl.handle.net/11567/973820Test

المؤلفون: Holmes, S, Male, AJ, Ramdharry, G, Woodward, C, James, N, Skorupinska, I, Skorupinska, M, Germain, L, Kozyra, D, Bugiardini, E, Poole, OV, Quinlivan, R, Hanna, MG, Kaski, D, Pitceathly, RDS

المصدر: 841 ; 838

مصطلحات موضوعية: neurootology, rehabilitation, vertigo, Adult, Aged, Female, Humans, Male, Middle Aged, Mitochondrial Diseases, Vestibular Diseases, 11 Medical and Health Sciences, 17 Psychology and Cognitive Sciences, Neurology & Neurosurgery

جغرافية الموضوع: England

العلاقة: Journal of Neurology, Neurosurgery and Psychiatry; http://hdl.handle.net/10044/1/80812Test

الإتاحة: https://doi.org/10.1136/jnnp-2018-319267Test
http://hdl.handle.net/10044/1/80812Test

المؤلفون: Cottenie, E, Kochanski, A, Jordanova, A, Bansagi, B, Zimon, M, Horga, A, Jaunmuktane, Z, Saveri, P, Rasic, VM, Baets, J, Bartsakoulia, M, Ploski, R, Teterycz, P, Nikolic, M, Quinlivan, R, Laura, M, Sweeney, MG, Taroni, F, Lunn, MP, Moroni, I, Gonzalez, M, Hanna, MG, Bettencourt, C, Chabrol, E, Franke, A, von Au, K, Schilhabel, M, Kabzińska, D, Hausmanowa-Petrusewicz, I, Brandner, S, Lim, SC, Song, H, Choi, BO, Horvath, R, Chung, KW, Zuchner, S, Pareyson, D, Harms, M, Reilly, MM, Houlden, H

المصدر: Am J Hum Genet , 95 (5) 590 - 601. (2014)

مصطلحات موضوعية: Adult, Base Sequence, Charcot-Marie-Tooth Disease, Chromosome Mapping, Exome, Female, Haplotypes, Humans, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Protein Interaction Mapping, Sequence Analysis, DNA, Sural Nerve

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1457906Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1457906/1/mmc2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1457906Test/

المؤلفون: Horga, A, Raja Rayan, DL, Matthews, E, Sud, R, Fialho, D, Durran, SC, Burge, JA, Portaro, S, Davis, MB, Haworth, A, Hanna, MG

المصدر: Neurology , 80 (16) 1472 - 1475. (2013)

مصطلحات موضوعية: Adult, Channelopathies, Chloride Channels, Data Interpretation, Statistical, Databases, Genetic, England, Female, Great Britain, Humans, Hypokalemic Periodic Paralysis, Male, Middle Aged, Muscle, Skeletal, Muscular Diseases, Mutation, Myotonia, Myotonic Disorders, NAV1.4 Voltage-Gated Sodium Channel, Paralyses, Familial Periodic, Paralysis, Hyperkalemic Periodic, Potassium Channels, Inwardly Rectifying, Prevalence, Sodium Channels

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1389753/1/Neurology-2013-Martinez-1465-71.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1389753Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1389753/1/Neurology-2013-Martinez-1465-71.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1389753Test/

المؤلفون: Tomlinson, SE, Rajakulendran, S, Tan, SV, Graves, TD, Bamiou, DE, Labrum, RW, Burke, D, Sue, CM, Giunti, P, Schorge, S, Kullmann, DM, Hanna, MG

المصدر: J Neurol Neurosurg Psychiatry , 84 (10) 1107 - 1112. (2013)

مصطلحات موضوعية: Cerebellar Ataxia, Epilepsy, Neurogenetics, Neuromuscular, Neurophysiol, Clinical, Adolescent, Ataxia, Cell Line, Transformed, Cerebellum, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Disability Evaluation, Electromyography, Female, Heterozygote Detection, Humans, In Vitro Techniques, Isaacs Syndrome, Kv1.1 Potassium Channel, Male, Motor Neurons, Myokymia, Pedigree, Phenotype, Sequence Analysis, DNA

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1384547/1/J_Neurol_Neurosurg_Psychiatry-2013-Tomlinson-1107-12.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1384547Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1384547/1/J_Neurol_Neurosurg_Psychiatry-2013-Tomlinson-1107-12.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1384547Test/

المؤلفون: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R

المصدر: Annals of Neurology

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Mitochondrial Diseases, Adolescent, Genetic Variation, Middle Aged, Mitochondrial Proton-Translocating ATPases, Brief Communication, United Kingdom, Cohort Studies, Young Adult, Humans, Female, Brief Communications, Child, Aged, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5e406cb62705e9180f68b1e21123416eTest
http://ora.ox.ac.uk/objects/uuidTest:

المؤلفون: Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, LE, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, GV, Simpson, MA, Rich, P, Al-Salmi, F, Patton, MA, Chioza, BA, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, MG, Pucci, P, Houlden, H, Lupski, JR, Crosby, AH, Baple, EL

المساهمون: Zollo, Massimo, Ahmed, M., Ferrucci, Veronica, Salpietro, V., Asadzadeh, F., Carotenuto, Marianeve, Maroofian, R., Al Amri, A., Singh, R., Scognamiglio, I., Mojarrad, M., Musella, L., Duilio, Angela, Di Somma, Angela, Karaca, E., Rajab, A., Al Khayat, A., Mohapatra, T. M., Eslahi, A., Ashrafzadeh, F., Rawlins, L. E., Prasad, R., Gupta, R., Kumari, P., Srivastava, M, Cozzolino, Flora, Rai, S. K., Monti, Maria, Harlalka, G. V., Simpson, M. A., Rich, P., Al Salmi, F., Patton, M. A., Chioza, B. A., Efthymiou, S., Granata, F., Di Rosa, G., Wiethoff, S., Borgione, E., Scuderi, C., Mankad, K., Hanna, M. G., Pucci, Pietro, Houlden, H., Lupski, J. R., Crosby, A. H., Baple, E. L.

المصدر: Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohapatra, T M, Eslahi, A, Ashrafzadeh, F, Rawlins, L E, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Rai, S K, Monti, M, Harlalka, G V, Simpson, M A, Rich, P, Al-Salmi, F, Patton, M A, Chioza, B A, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, M G, Pucci, P, Houlden, H, Lupski, J R, Crosby, A H & Baple, E L 2017, ' PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ', Brain, vol. 140, no. 4, pp. 940-952 . https://doi.org/10.1093/brain/awx014Test
Brain

مصطلحات موضوعية: Male, Adolescent, Developmental delay, Developmental Disabilities, Nervous System, Microtubules, Normal brain development, Young Adult, Cell Movement, Recessive, Humans, microcephaly, Child, Preschool, Cytoskeleton, Cerebral Cortex, normal brain development, fungi, Brain, Infant, Cell Differentiation, Original Articles, Microtubule polymerization, PRUNE1, developmental delay, microcephaly, microtubule polymerization, tubulinopathy, normal brain development, Microcephaly, PRUNE1, Tubulinopathy, Carrier Proteins, Child, Preschool, Female, Genes, Recessive, Heredodegenerative Disorders, Nervous System, Mutation, Pedigree, microtubule polymerization, tubulinopathy, developmental delay, Genes, nervous system, Heredodegenerative Disorders

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e2db02146623e2293cb66ae2ab226462Test
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1aTest

المؤلفون: Jaffer F, Avbersek A, Vavassori R, Fons-Estupina C, Campistol-Plana J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM

المصدر: BRAIN
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Brain
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Adult, Male, SUDEP, Adolescent, Heart Diseases, Heart Ventricles, International Cooperation, Hemiplegia, alternating hemiplegia of childhood, ATP1A3, Na+ /K + -ATPase, electrocardiogram, Na+/K+-ATPase, Age Factors, Autonomic Nervous System Diseases, Child, Child, Preschool, Cohort Studies, Electrocardiography, Female, Heart Rate, Humans, Infant, Infant, Newborn, Mutation, Sodium-Potassium-Exchanging ATPase, Young Adult, Medicine (all), Arts and Humanities (miscellaneous), Neurology (clinical), Preschool, Original Articles, Newborn, cardiovascular system

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a18544b6a47ecbf30373471512b808f4Test
http://resolver.sub.uni-goettingen.de/purl?gs-1/12623Test

المؤلفون: Pane, Marika, Mercuri, Eugenio Maria

المساهمون: Scoto, M, Cirak, S, Mein, R, Feng, L, Manzur, Ay, Robb, S, Childs, A, Quinlivan, Rm, Roper, H, Jones, Dh, Longman, C, Chow, G, Pane, Marika, Main, M, Hanna, Mg, Bushby, K, Sewry, C, Abbs, S, Mercuri, Eugenio Maria, Muntoni, F.

مصطلحات موضوعية: Genetic Association Studies, Severity of Illness Index, Adolescent, Adult, Child, Preschool, Cohort Studies, Cross-Sectional Studies, Female, Humans, Infant, Male, Middle Aged, Muscle Proteins, Muscular Diseases, Mutation, Selenoproteins, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21670436; volume:76; issue:24; firstpage:2073; lastpage:2078; numberofpages:6; issueyear:2011; journal:NEUROLOGY; http://hdl.handle.net/10807/6693Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79959642268

الإتاحة: https://doi.org/10.1212/WNL.0b013e31821f467cTest
http://hdl.handle.net/10807/6693Test

المؤلفون: McKenzie, Matthew, Liolitsa, Danae, Akinshina, Natalya, Campanella, Michelangelo, Sisodiya, Sanjay, Hargreaves, Ian, Nirmalananthan, Niranjanan, Sweeney, Mary G, Abou-Sleiman, Patrick M, Wood, Nicholas W, Hanna, Michael G, Duchen, Michael R

المساهمون: Mckenzie, M, Liolitsa, D, Akinshina, N, Campanella, M, Sisodiya, S, Hargreaves, I, Nirmalananthan, N, Sweeney, Mg, Abou-Sleiman, Pm, Wood, Nw, Hanna, Mg, Duchen, Mr

مصطلحات موضوعية: Acidosis, Lactic, Adenosine Triphosphate, Adult, Anti-Bacterial Agents, Antimetabolites, Bongkrekic Acid, Cell Line, Tumor, DNA, Mitochondrial, Deoxyglucose, Electron Transport Complex I, Female, Fibroblasts, Glycolysis, Humans, Membrane Potential, Mitochondria, Muscle, Mitochondrial Encephalomyopathies, Mitochondrial Proteins, Oligomycins, Oxygen Consumption, Proton-Translocating ATPases, Stroke, Point Mutation, Settore BIO/06 - ANATOMIA COMPARATA E CITOLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17940288; volume:282; issue:51; firstpage:36845; lastpage:36852; numberofpages:8; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/2108/265751Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-37549067007

الإتاحة: https://doi.org/10.1074/jbc.M704158200Test
http://hdl.handle.net/2108/265751Test