المؤلفون: Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stulpnagel C, Smedley D, Pochiero F, Mari F, Ramesh V, Capra V, Mancardi M, Keren B, Mignot C, Lulli M, Parks K, Griffin H, Brugger M, Nigro V, Hirata Y, Koichihara R, Peterlin B, Maki R, Nitta Y, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M, Torella A, Tohyama J, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R

المصدر: American Journal of Human Genetics, 3 August 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293028; https://eprints.ncl.ac.uk/fulltext.aspx?url=293028/72092B1E-63AA-46F3-8128-4AA7055D67D9.pdf&pub_id=293028

الاتاحة: https://eprints.ncl.ac.uk/293028

المؤلفون: Vetro, A, Pelorosso, C, Balestrini, S, Masi, A, Hambleton, S, Argilli, E, Conti, V, Giubbolini, S, Barrick, R, Bergant, G, Writzl, K, Bijlsma, EK, Brunet, T, Cacheiro, P, Mei, D, Devlin, A, Hoffer, MJV, Machol, K, Mannaioni, G, Sakamoto, M, Menezes, MP, Courtin, T, Sherr, E, Parra, R, Richardson, R, Roscioli, T, Scala, M, von Stülpnagel, C, Smedley, D, TMEM63B collaborators, Genomics England Research Consortium, Torella, A, Tohyama, J, Koichihara, R, Hamada, K, Ogata, K, Suzuki, T, Sugie, A, van der Smagt, JJ, van Gassen, K, Valence, S, Vittery, E, Malone, S, Kato, M, Matsumoto, N, Ratto, GM, Guerrini, R

مصطلحات موضوعية: abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Brain, Intellectual Disability, Phenotype

وصف الملف: 1356 - 1376

Relation: Am J Hum Genet; TY - JOUR T1 - Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration AU - Vetro, Annalisa AU - Pelorosso, Cristiana AU - Balestrini, Simona AU - Masi, Alessio AU - Hambleton, Sophie AU - Argilli, Emanuela AU - Conti, Valerio AU - Giubbolini, Simone AU - Barrick, Rebekah AU - Bergant, Gaber AU - Writzl, Karin AU - Bijlsma, Emilia K. AU - Brunet, Theresa AU - Cacheiro, Pilar AU - Mei, Davide AU - Devlin, Anita AU - Hoffer, Mariëtte J.V. AU - Machol, Keren AU - Mannaioni, Guido AU - Sakamoto, Masamune AU - Menezes, Manoj P. AU - Courtin, Thomas AU - Sherr, Elliott AU - Parra, Riccardo AU - Richardson, Ruth AU - Roscioli, Tony AU - Scala, Marcello AU - von Stülpnagel, Celina AU - Smedley, Damian AU - Pochiero, Francesca AU - Mari, Francesco AU - Ramesh, Venkateswaran AU - Capra, Valeria AU - Mancardi, Margherita AU - Keren, Boris AU - Mignot, Cyiril AU - Lulli, Matteo AU - Parks, Kendall AU - Griffin, Helen AU - Brugger, Melanie AU - Nigro, Vincenzo AU - Hirata, Yuko AU - Koichihara, Reiko AU - Peterlin, Borut AU - Hirata, Yuko AU - Maki, Ryuto AU - Nitta, Yohei AU - Ambrose, John C. AU - Arumugam, Prabhu AU - Bevers, Roel AU - Bleda, Marta AU - Boardman-Pretty, Freya AU - Boustred, Christopher R. AU - Brittain, Helen AU - Brown, Matthew A. AU - Caulfield, Mark J. AU - Chan, Georgia C. AU - Giess, Adam AU - Griffin, John N. AU - Hamblin, Angela AU - Henderson, Shirley AU - Hubbard, Tim J.P. AU - Jackson, Rob AU - Jones, Louise J. AU - Kasperaviciute, Dalia AU - Kayikci, Melis AU - Kousathanas, Athanasios AU - Lahnstein, Lea AU - Lakey, Anna AU - Leigh, Sarah E.A. AU - Leong, Ivonne U.S. AU - Lopez, Javier F. AU - Maleady-Crowe, Fiona AU - McEntagart, Meriel AU - Minneci, Federico AU - Mitchell, Jonathan AU - Moutsianas, Loukas AU - Mueller, Michael AU - Murugaesu, Nirupa AU - Need, Anna C. AU - O’Donovan, Peter AU - Odhams, Chris A. AU - Patch, Christine AU - Perez-Gil, Daniel AU - Pereira, Marina B. AU - Pullinger, John AU - Rahim, Tahrima AU - Rendon, Augusto AU - Rogers, Tim AU - Savage, Kevin AU - Sawant, Kushmita AU - Scott, Richard H. AU - Siddiq, Afshan AU - Sieghart, Alexander AU - Smith, Samuel C. AU - Sosinsky, Alona AU - Stuckey, Alexander AU - Tanguy, Mélanie AU - Taylor Tavares, Ana Lisa AU - Thomas, Ellen R.A. AU - Thompson, Simon R. AU - Tucci, Arianna AU - Welland, Matthew J. AU - Williams, Eleanor AU - Witkowska, Katarzyna AU - Wood, Suzanne M. AU - Zarowiecki, Magdalena AU - Torella, Annalaura AU - Tohyama, Jun AU - Koichihara, Reiko AU - Hamada, Keisuke AU - Ogata, Kazuhiro AU - Suzuki, Takashi AU - Sugie, Atsushi AU - van der Smagt, Jasper J. AU - van Gassen, Koen AU - Valence, Stephanie AU - Vittery, Emma AU - Malone, Stephen AU - Kato, Mitsuhiro AU - Matsumoto, Naomichi AU - Ratto, Gian Michele AU - Guerrini, Renzo Y1 - 2023/08/03 PY - 2023 N1 - doi:10.1016/j.ajhg.2023.06.008 DO - 10.1016/j.ajhg.2023.06.008 T2 - The American Journal of Human Genetics JF - The American Journal of Human Genetics SP - 1356 EP - 1376 VL - 110 IS - 8 PB - Elsevier SN - 0002-9297 M3 - doi:10.1016/j.ajhg.2023.06.008 UR - https://doi.org/10.1016/j.ajhg.2023.06.008 Y2 - 2024/07/15 ER -; https://qmro.qmul.ac.uk/xmlui/handle/123456789/98118

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/98118
https://doi.org/10.1016/j.ajhg.2023.06.008

المؤلفون: Koko M., Motelow J. E., Stanley K. E., Bobbili D. R., Dhindsa R. S., May P., Alldredge B. K., Allen A. S., Altmuller J., Amrom D., Andermann E., Auce P., Avbersek A., Baulac S., Bautista J. F., Becker F., Bellows S. T., Berghuis B., Berkovic S. F., Bluvstein J., Boro A., Bridgers J., Burgess R., Caglayan H., Cascino G. D., Cavalleri G. L., Chung S. -K., Cieuta-Walti C., Cloutier V., Consalvo D., Cossette P., Crumrine P., Delanty N., Depondt C., Desbiens R., Devinsky O., Dlugos D., Epstein M. P., Everett K., Fiol M., Fountain N. B., Francis B., French J., Freyer C., Friedman D., Gambardella A., Geller E. B., Girard S., Glauser T., Glynn S., Goldstein D. B., Gravel M., Haas K., Haut S. R., Heinzen E. L., Helbig I., Hildebrand M. S., Johnson M. R., Jorgensen A., Joshi S., Kanner A., Kirsch H. E., Klein K. M., Knowlton R. C., Koeleman B. P. C., Kossoff E. H., Krause R., Krenn M., Kunz W. S., Kuzniecky R., Langley S. R., LeGuern E., Lehesjoki A. -E., Lerche H., Leu C., Lortie A., Lowenstein D. H., Marson A. G., Mebane C., Mefford H. C., Meloche C., Moreau C., Motika P. V., Muhle H., Moller R. S., Nabbout R., Nguyen D. K., Nikanorova M., Novotny E. J., Nurnberg P., Ottman R., O'Brien T. J., Paolicchi J. M., Parent J. M., Park K., Peter S., Petrou S., Petrovski S., Pickrell W. O., Poduri A., Radtke R. A., Rees M. I., Regan B. M., Ren Z., Sadleir L. G., Sander J. W., Sander T., Scheffer I. E., Schubert J., Shellhaas R. A., Sherr E. H., Shih J. J., Shinnar S., Sills G. J., Singh R. K., Siren A., Sirven J., Sisodiya S. M., Smith M. C., Sonsma A. C. M., Striano P., Sullivan J., Thio L. L., Thomas R. H., Venkat A., Vining E. P. G., Von Allmen G. K., Wang Q., Weber Y. G., Weckhuysen S., Weisenberg J. L., Widdess-Walsh P., Winawer M. R., Wolking S., Zara F., Zimprich F.

المساهمون: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A.

مصطلحات موضوعية: GABRG2, GABAA receptor, GGE, familial epilepsy, sporadic epilepsy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35032048; info:eu-repo/semantics/altIdentifier/wos/WOS:000742638200001; volume:63; firstpage:723; lastpage:735; numberofpages:13; journal:EPILEPSIA; http://hdl.handle.net/11567/1080622; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122822705

الاتاحة: http://hdl.handle.net/11567/1080622
https://doi.org/10.1111/epi.17166

المؤلفون: Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu1, B., Villard, L., Stegmann, A., Vanhoutte, E., Verdonschot, J., Kaiser, F., Mau-Them, F., Scala, M., Striano, P., Frints, S., Argilli, E., Sherr, E., Elder, F., Buratti, J., Keren, B., Mignot, C., Héron, D., Mandel, J., Gecz, J., Kalscheuer, V., Horsthemke, B., Piton, A., Depienne, C.

المصدر: Nature Communications

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000B-6343-A; http://hdl.handle.net/21.11116/0000-000B-6345-8

الاتاحة: http://hdl.handle.net/21.11116/0000-000B-6343-A
http://hdl.handle.net/21.11116/0000-000B-6345-8

المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207

الاتاحة: http://hdl.handle.net/2318/1764207
https://doi.org/10.1126/sciadv.abc9207
https://advances.sciencemag.org/content/6/49/eabc9207

المؤلفون: Baranzini, Sergio, Su, SY, Kasberger, J, Byerley, W, Liao, W, Oksenberg, J, Sherr, E, Jorgenson, E

URL الوصول: https://escholarship.org/uc/item/1q38w9qx

المؤلفون: Prust, M, Wang, J, Morizono, H, Messing, A, Brenner, M, Gordon, E, Hartka, T, Sokohl, A, Schiffmann, R, Gordish-Dressman, H, Albin, R, Amartino, H, Brockman, K, Dinopoulos, A, Dotti, MT, Fain, D, Fernandez, R, Ferreira, J, Fleming, J, Gill, D, Griebel, M, Heilstedt, H, Kaplan, P, Lewis, D, Nakagawa, M, Pedersen, R, Reddy, A, Sawaishi, Y, Schneider, M, Sherr, E, Takiyama, Y, Wakabayashi, K, Gorospe, JR, Vanderver, A

المصدر: Neurology. 77(13)

مصطلحات موضوعية: Neurosciences, Clinical Research, Brain Disorders, Neurodegenerative, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Age Factors, Age of Onset, Alexander Disease, Bayes Theorem, DNA Mutational Analysis, Exons, Female, Glial Fibrillary Acidic Protein, Humans, Logistic Models, Male, Mutation, Retrospective Studies, Survival Analysis, Young Adult, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4sz3t27q

المؤلفون: Mattison K. A., Tossing G., Mulroe F., Simmons C., Butleer K. M., Schreiber A., Alsadah A., Neeilson D. E., Naess K., Wedell A., Wredenberg A., Sorlin A., Mccann E., Burghel G. J., Menendez B., Hoganson G. E., Botto L. D., Filloux F. M., Aledo-Serrano A., Gil-Nagel A., Tatton-Brown K., Verbeek N. E., Van Der Zwaag B., Aleck K. A., Fazenbaker A. C., Balciuniene J., Dubbs H. A., Marsh E. D., Garber K., Ek J., Duno M., Hoei-Hansen C. E., Deardorff M. A., Raca G., Quindipan C., Van Hirtum-Das M., Breckpot J., Hammer T. B., Moller R. S., Whitney A., Douglas A. G. L., Kharbanda M., Brunetti-Pierri N., Morleo M., Nigro V., May H. J., Tao J. X., Argilli E., Sherr E. H., Dobyns W. B., Baines R. A., Warwicker J., Parker J. A., Banka S., Campeau P. M., Escayg A.

المساهمون: Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butleer, K. M., Schreiber, A., Alsadah, A., Neeilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., Mccann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, A., Gil-Nagel, A., Tatton-Brown, K., Verbeek, N. E., Van Der Zwaag, B., Aleck, K. A., Fazenbaker, A. C., Balciuniene, J., Dubbs, H. A., Marsh, E. D., Garber, K., Ek, J., Duno, M., Hoei-Hansen, C. E., Deardorff, M. A., Raca, G., Quindipan, C., Van Hirtum-Das, M., Breckpot, J., Hammer, T. B., Moller, R. S., Whitney, A., Douglas, A. G. L., Kharbanda, M., Brunetti-Pierri, N., Morleo, M., Nigro, V., May, H. J., Tao, J. X., Argilli, E., Sherr, E. H., Dobyns, W. B., Baines, R. A., Warwicker, J., Parker, J. A., Banka, S., Campeau, P. M., Escayg, A.

مصطلحات موضوعية: ATP6V0C, V-ATPase, VMA3, epilepsy genetic, neurodevelopmental disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/36074901; info:eu-repo/semantics/altIdentifier/wos/WOS:000927881300001; journal:BRAIN; https://hdl.handle.net/11591/482528

الاتاحة: https://hdl.handle.net/11591/482528
https://doi.org/10.1093/brain/awac330

المؤلفون: de Sainte Agathe, J.M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F.S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M.L., Bryant, E.M., Wagner, M., Hannibal, I., Lenberg, J., Krenn, M., Wigby, K.M., Friedman, J.R., Iascone, M., Cereda, A., Miao, T., Leguern, E., Argilli, E., Sherr, E., Caluseriu, O., Tidwell, T., Bayrak-Toydemir, P., Hagedorn, C., Brugger, M., Vill, K., Morneau-Jacob, F.D., Chung, W., Weaver, K.N., Owens, J.W., Husami, A., Chaudhari, B.P., Stone, B.S., Burns, K., Li, R., de Lange, I.M., Biehler, M., Ginglinger, E., Gérard, B., Stottmann, R.W., Trimouille, A.

المصدر: J. Med. Genet. 60, 999-1005 (2023)

مصطلحات موضوعية: Epilepsy, Human Genetics, Sequence Analysis, Dna

Relation: info:eu-repo/semantics/altIdentifier/pmid/37185208; info:eu-repo/semantics/altIdentifier/wos/000980709900001; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semantics/altIde

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67799
https://doi.org/10.1136/jmg-2022-108803

المؤلفون: Leitão E., Schröder C., Parenti I., Dalle C., Rastetter A., Kühnel T., Kuechler A., Kaya S., Gérard B., Schaefer E., Nava C., Drouot N., Engel C., Piard J., Duban-Bedu B., Villard L., Stegmann A. P. A., Vanhoutte E. K., Verdonschot J. A. J., Kaiser F. J., Tran Mau-Them F., Scala M., Striano P., Frints S. G. M., Argilli E., Sherr E. H., Elder F., Buratti J., Keren B., Mignot C., Héron D., Mandel J. L., Gecz J., Kalscheuer V. M., Horsthemke B., Piton A., Depienne C.

المساهمون: Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., Kaiser, F. J., Tran Mau-Them, F., Scala, M., Striano, P., Frints, S. G. M., Argilli, E., Sherr, E. H., Elder, F., Buratti, J., Keren, B., Mignot, C., Héron, D., Mandel, J. L., Gecz, J., Kalscheuer, V. M., Horsthemke, B., Piton, A., Depienne, C.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36323681; info:eu-repo/semantics/altIdentifier/wos/WOS:000879356300008; volume:13; firstpage:6570; lastpage:6587; numberofpages:18; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11567/1119303; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141183419

الاتاحة: https://hdl.handle.net/11567/1119303
https://doi.org/10.1038/s41467-022-34264-y

المؤلفون: Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J., Moreau, C., Modenato, C., Maillard, A., Pain, A., Richetin, S., Jønch, A., Qureshi, A., Zürcher, N., Conus, P., Chung, W., Sherr, E., Spiro, J., Kherif, F., Beckmann, J., Hadjikhani, N., Reymond, A., Buckner, R., Draganski, B., Jacquemont, S.

المساهمون: 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium

المصدر: Biological Psychiatry

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/29778275; http://hdl.handle.net/21.11116/0000-0001-6AE8-3; http://hdl.handle.net/21.11116/0000-0001-FF1F-F

الاتاحة: http://hdl.handle.net/21.11116/0000-0001-6AE8-3
http://hdl.handle.net/21.11116/0000-0001-FF1F-F

المؤلفون: Allen, AS, Berkovic, SF, Bridgers, J, Cossette, P, Dlugos, D, Epstein, MP, Glauser, T, Goldstein, DB, Heinzen, EL, Jiang, Y, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Petrou, S, Petrovski, S, Poduri, A, Ren, Z, Scheffer, IE, Sherr, E, Wang, Q, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Helbig, I, Hjalgrim, H, Hoffman-Zacharska, D, Jaehn, J, Klein, KM, Koeleman, B, Komarek, V, Krause, R, Leguern, E, Lehesjoki, A-E, Lemke, JR, Lerche, H, Linnankivi, T, Marini, C, May, P, Moller, RS, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, S, Stephani, U, Sterbova, K, Striano, P, Suls, A, Talvik, T, von Spiczak, S, Weber, Y, Weckhuysen, S, Zara, F, Abou-Khalil, B, Alldredge, BK, Amrom, D, Andermann, E, Andermann, F, Bautista, JF, Bluvstein, J, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, ME, Fountain, NB, French, J, Friedman, D, Haas, K, Haut, SR, Hayward, J, Joshi, S, Kanner, A, Kirsch, HE, Kossoff, EH, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, J, Park, K, Shellhaas, RA, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

المصدر: European Journal of Human Genetics , 25 (7) pp. 894-899. (2017)

مصطلحات موضوعية: Epilepsy, Risk factors

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10082842/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10082842/

المؤلفون: Alber, M., Kalscheuer, V., Marco, E., Sherr, E., Lesca, G., Till, M., Gradek, G., Wiesener, A., Korenke, C., Mercier, S., Becker, F., Yamamoto, T., Scherer, S., Marshall, C., Walker, S., Dutta, U., Dalal, A., Suckow, V., Jamali, P., Kahrizi, K., Najmabadi, H., Minassian, B.

المصدر: Neurology Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0000-C832-6; http://hdl.handle.net/21.11116/0000-0000-C834-4

الاتاحة: http://hdl.handle.net/21.11116/0000-0000-C832-6
http://hdl.handle.net/21.11116/0000-0000-C834-4

المؤلفون: Velmans, C., O'Donnell-Luria, A.H., Argilli, E., Tran Mau-Them, F., Vitobello, A., Chan, M.C., Fung, J.L., Rech, M., Abicht, A., Aubert Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., Denommé-Pichon, A.S., de Dios, J.K., England, E., Funalot, B., Gerard, M., Joseph, M., Kennedy, C., Kumps, C., Willems, M., van de Laar, IMBH, Aarts-Tesselaar, C., van Slegtenhorst, M., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L.S., Paterson, H., Ramanathan, S., Rodan, L.H., Superti-Furga, A., Chung, BHY, Sherr, E., Netzer, C., Schaaf, C.P., Erger, F.

المصدر: Journal of medical genetics, vol. 59, no. 7, pp. 697-705

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Child, Humans, Intellectual Disability/diagnosis, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Megalencephaly, Neurodevelopmental Disorders, Seizures/epidemiology, Seizures/genetics, Syndrome, Whole Exome Sequencing, behavioural, genetic counselling, genetics, human genetics, mutation

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34321323; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; https://serval.unil.ch/notice/serval:BIB_83FFDC95F451; https://serval.unil.ch/resource/serval:BIB_83FFDC95F451.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_83FFDC95F451
https://doi.org/10.1136/jmedgenet-2020-107470
https://serval.unil.ch/resource/serval:BIB_83FFDC95F451.P001/REF.pdf

المؤلفون: Anguera, J A, Brandes-Aitken, A N, Rolle, C E, Skinner, S N, Desai, S S, Bower, J D, Martucci, W E, Chung, W K, Sherr, E H, Marco, E J

المصدر: Translational Psychiatry ; volume 6, issue 9, page e893-e893 ; ISSN 2158-3188

الاتاحة: http://dx.doi.org/10.1038/tp.2016.178
https://www.nature.com/articles/tp2016178.pdf
https://www.nature.com/articles/tp2016178

المؤلفون: Zufferey, F, Sherr, E. H, Beckmann, N. D, Hanson, E, Maillard, A. M, Hippolyte, L, Macé, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W. A, Goin-Kochel, R. P, Grant, E, Harewood, L, Hunter, J. V, Lebon, S, Ledbetter, D. H, Martin, C. L, Männik, K, Martinet, D, Mukherjee, P, Ramocki, M. B, Spence, S. J, Steinman, K. J, Tjernage, J, Spiro, J. E, Reymond, A, Beckmann, J. S, Chung, W. K, Jacquemont, S, Addor, M. C, Arveiler, B, Belfiore, M, Bena, F, Bernardini, L, Blanchet, P, Bonneau, D, Boute, O, Callier, P, Campion, D, Chiesa, J, Cordier, M. P, Cuisset, J. M, David, A, De Leeuw, N, De Vries, B, Didelot, G, Doco-Fenzy, M, Bedu, B. D, Dubourg, C, Dupuis-Girod, S, Fagerberg, C. R, Faivre, L, Fellmann, F, Fernandez, B. A, Fisher, R, Flori, E, Goldenberg, A, Heron, D, Holder, M, Hoyer, J, Isidor, B, Jaillard, S, Jonveaux, P, Joriot, S, Journel, H, Kooy, F, le Caignec, C, Leheup, B, Lemaitre, M. -P, Lewis, S, Malan, V, Mathieu-Dramard, M, Metspalu, A, Morice-Picard, F, Mucciolo, M, Oiglane-Shlik, E, Ounap, K, Pasquier, L, Petit, F, Philippe, A, Plessis, G, Prieur, F, Puechberty, J, Rajcan-Separovic, E, Rauch, A, Renieri, A, Rieubland, C, Rooryck, C, Rötzer, K. M, Ruiter, M, Sanlaville, D, Selmoni, S, Shen, Y, Siffredi, V, Thonney, J, Vallée, L, Van Binsbergen, E, Van der Aa, N, Van Haelst, M. M, Vigneron, J, Vincent-Delorme, C, Vittoria, D, Vulto-Van Silfhout, A. T, Witwicki, R. M, Zwolinski, S. A, Bowe, A, Beaudet, A. L, Brewton, C. M, Chu, Z, Dempsey, A. G, Evans, Y. L, Garza, S, Kanne, S. M, Laakman, A. L, Lasala, M. W, Llorens, A. V, Marzano, G, Moss, T. J, Nowell, K. P, Proud, M. B, Chen, Q, Vaughan, R, Berman, J, Blaskey, L, Hines, K, Kessler, S, Khan, S. Y, Qasmieh, S, Bibb, A. L, Paal, A. M, Page, P. Z, Smith-Packard, B, Buckner, R, Burko, J, Cavanagh, A. L, Cerban, B, Snow, A. V, Snyder, L. G, Keehn, R. M, Miller, D. T, Miller, F. K, Olson, J. E, Triantafallou, C, Visyak, N, Atwell, C, Benedetti, M, Fischbach, G. D, Greenup, M, Packer, A, Bukshpun, P, Cheong, M, Dale, C, Gobuty, S. E, Hinkley, L, Jeremy, R. J, Lee, H, Luks, T. L, Marco, E. J, Martin, A. J, McGovern, K. E, Nagarajan, S. S, Owen, J, Paul, B. M, Pojman, N. J, Sinha, T, Swarnakar, V, Wakahiro, M, Alupay, H, Aaronson, B, Ackerman, S, Ankenman, K, Elgin, J, Gerdts, J, Johnson, K, Reilly, B, Shaw, D, Stevens, A, Ward, T, Wenegrat, J, Roberts, T. P. L.

المساهمون: Zufferey, F, Sherr, E. H, Beckmann, N. D, Hanson, E, Maillard, A. M, Hippolyte, L, Macé, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W. A, Goin-Kochel, R. P, Grant, E, Harewood, L, Hunter, J. V, Lebon, S, Ledbetter, D. H, Martin, C. L, Männik, K, Martinet, D, Mukherjee, P, Ramocki, M. B, Spence, S. J, Steinman, K. J, Tjernage, J, Spiro, J. E, Reymond, A, Beckmann, J. S, Chung, W. K, Jacquemont, S, Addor, M. C, Arveiler, B, Belfiore, M, Bena, F, Bernardini, L, Blanchet, P, Bonneau, D, Boute, O, Callier, P, Campion, D, Chiesa, J, Cordier, M. P, Cuisset, J. M, David, A, De Leeuw, N, De Vries, B, Didelot, G, Doco-Fenzy, M, Bedu, B. D, Dubourg, C, Dupuis-Girod, S, Fagerberg, C. R, Faivre, L, Fellmann, F, Fernandez, B. A, Fisher, R, Flori, E, Goldenberg, A, Heron, D, Holder, M, Hoyer, J, Isidor, B, Jaillard, S, Jonveaux, P, Joriot, S, Journel, H, Kooy, F, le Caignec, C, Leheup, B, Lemaitre, M. -P, Lewis, S, Malan, V, Mathieu-Dramard, M, Metspalu, A, Morice-Picard, F, Mucciolo, M, Oiglane-Shlik, E, Ounap, K, Pasquier, L, Petit, F, Philippe, A, Plessis, G, Prieur, F, Puechberty, J, Rajcan-Separovic, E, Rauch, A, Renieri, A, Rieubland, C, Rooryck, C, Rötzer, K. M, Ruiter, M, Sanlaville, D, Selmoni, S, Shen, Y

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23054248; info:eu-repo/semantics/altIdentifier/wos/WOS:000309961000009; ispartofbook:Journal of Medical Genetics; volume:49; issue:10; firstpage:660; lastpage:668; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11365/960292; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870280744

الاتاحة: http://hdl.handle.net/11365/960292
https://doi.org/10.1136/jmedgenet-2012-101203

المؤلفون: Abou-Khalil, B, Alldredge, BK, Allen, AS, Andermann, E, Andermann, F, Amrom, D, Bautista, JF, Berkovic, SF, Boro, A, Cascino, G, Coe, BP, Consalvo, D, Cook, J, Cossette, P, Crumrine, P, Delanty, N, Devinsky, O, Dlugos, D, Eichler, EE, Epstein, MP, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Goldstein, DB, Haut, SR, Hayward, J, Heinzen, EL, Helmers, SL, Johnson, MR, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, EH, Krumm, N, Kuperman, R, Kuzniecky, R, Lowenstein, DH, Marson, AG, McGuire, SM, Mefford, HC, Motika, PV, Nelson, B, Nieh, SE, Novotny, EJ, O'Brien, TJ, Ottman, R, Paolicchi, JM, Parent, J, Park, K, Petrou, S, Petrovski, S, Poduri, A, Raja, A, Ruzzo, EK, Scheffer, IE, Shellhaas, RA, Sherr, E, Shih, JJ, Singh, R, Sirven, J, Smith, MC, Sullivan, J, Liu, LT, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

Relation: Abou-Khalil, B., Alldredge, B. K., Allen, A. S., Andermann, E., Andermann, F., Amrom, D., Bautista, J. F., Berkovic, S. F., Boro, A., Cascino, G., Coe, B. P., Consalvo, D., Cook, J., Cossette, P., Crumrine, P., Delanty, N., Devinsky, O., Dlugos, D., Eichler, E. E. ,. Winawer, M. R. (2015). Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. ANNALS OF NEUROLOGY, 78 (2), pp.323-328. https://doi.org/10.1002/ana.24457.; http://hdl.handle.net/11343/257719

الاتاحة: http://hdl.handle.net/11343/257719

المؤلفون: Keller, M. D., Haugen, E. M., Sherr, E. B., Sherr, B. F.

المصدر: Microbial Ecology, 1994 Jul 01. 28(1), 39-52.

URL الوصول: https://www.jstor.org/stable/4251359

المؤلفون: Sherr, E. B., Sherr, B. F.

المصدر: Microbial Ecology, 1994 Sep 01. 28(2), 223-235.

URL الوصول: https://www.jstor.org/stable/4251379

المؤلفون: Berman, T., Sherr, B. F., Sherr, E., Wynne, D., McCarthy, J. J.

المصدر: Limnology and Oceanography, 1984 Mar 01. 29(2), 287-297.

URL الوصول: https://www.jstor.org/stable/2836326