المؤلفون: Vestito, Letizia, Jacobsen, Julius, Walker, Susan, Cipriani, Valentina, Harris, Nomi, Haendel, Melissa, Mungall, Christopher, Robinson, Peter, Smedley, Damian

المصدر: npj Genomic Medicine. 9(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2q91m046
https://escholarship.org/content/qt2q91m046/qt2q91m046.pdf

المؤلفون: Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie, L, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William, D, Wierenga, Klaas, J, Klee, Eric, W, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel

المساهمون: Mécanismes moléculaires dans les démences neurodégénératives (MMDN), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Universitaire de Recherche Clinique (IURC Montpellier), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), GIN Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre de recherche en Biologie cellulaire de Montpellier (CRBM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: cause spastic ataxia TUBA4A monoallelic variants cause spastic ataxia Ataxia TUBA4A Spasticity, De novo Tubulinopathy, Cerebellar atrophy Amyotrophic Lateral Sclerosis CCAS: Cerebellar Cognitive and Affective Syndrome FTD: Fronto-Temporal Dementia. HA: Hereditary Ataxia HSP: Hereditary Spastic Paraplegia LMN: Lower motor neuron MAP: Microtubule Associated Protein MT: Microtubules MSP: Multiple Systemic Proteinopathy PTM: Post-Translational Modifications PLS: Primary Lateral Sclerosis UMN: Upper motor neuron, cause spastic ataxia TUBA4A monoallelic variants cause spastic ataxia Ataxia, TUBA4A, Spasticity, De novo, Tubulinopathy, Cerebellar atrophy Amyotrophic Lateral Sclerosis, CCAS: Cerebellar Cognitive and Affective Syndrome, FTD: Fronto-Temporal Dementia. HA: Hereditary Ataxia, HSP: Hereditary Spastic Paraplegia, LMN: Lower motor neuron, MAP: Microtubule Associated Protein, MT: Microtubules, MSP: Multiple Systemic Proteinopathy, PTM: Post-Translational Modifications, PLS: Primary Lateral Sclerosis, UMN: Upper motor neuron, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04795703
https://hal.science/hal-04795703v1/document
https://hal.science/hal-04795703v1/file/benkirane%20et%20al%202024.pdf
https://doi.org/10.1093/brain/awae193

المؤلفون: Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, Cisterna García, Alejandro, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Genomics England Research Consortium Nick Wood, ., Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

المصدر: Brain , 146 , Article awad009. (2023)

مصطلحات موضوعية: Genomics England Research Consortium Nick Wood

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10163233/7/Houlden_awad009.pdf; https://discovery.ucl.ac.uk/id/eprint/10163233/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10163233/7/Houlden_awad009.pdf
https://discovery.ucl.ac.uk/id/eprint/10163233/

المؤلفون: Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M, Kelley, Whitley V, Vestito, Letizia, Sisodiya, Sanjay M, Genomics England Research Consortium, ., Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D, Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo

المصدر: Genetics in Medicine , 25 (11) , Article 100922. (2023)

مصطلحات موضوعية: RPH3A, epilepsy, excitatory synapse, neurodevelopmental disorder, rabphilin

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10173344/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173344/1/Sisodiya_Missence_Variants_1-s2.0-S1098360023009358-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10173344/

المؤلفون: Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Downes, Susan M., Németh, Andrea H., Tofaris, George K., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B.

المصدر: Genetics in Medicine ; volume 25, issue 10, page 100961 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2023.100961
https://api.elsevier.com/content/article/PII:S1098360023009759?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009759?httpAccept=text/plain

المؤلفون: Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, Smedley, Damian

المصدر: medRxiv (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10185489/1/2023%20Cipriani%20100K%20Gene%20burden%20MedRXiv.pdf; https://discovery.ucl.ac.uk/id/eprint/10185489/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10185489/1/2023%20Cipriani%20100K%20Gene%20burden%20MedRXiv.pdf
https://discovery.ucl.ac.uk/id/eprint/10185489/

المؤلفون: Montalban, Enrica, Giralt, Albert, Taing, Lieng, Schut, Evelien, H S, Supiot, Laura, F, Castell, Laia, Nakamura, Yuki, de Pins, Benoit, Pelosi, Assunta, Goutebroze, Laurence, Tuduri, Pola, Wang, Wei, Neiburga, Katrina Daila, Vestito, Letizia, Castel, Julien, Luquet, Serge, Nairn, Angus C., Hervé, Denis, Heintz, Nathaniel, Martin, Claire, Greengard, Paul, Valjent, Emmanuel, Meye, Frank J., Gambardella, Nicolas, Roussarie, Jean-Pierre, Girault, Jean‐antoine

المساهمون: Institut du Fer à Moulin (IFM - Inserm U1270 - SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Universitat de Barcelona (UB), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III Madrid (ISC), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universiteit Utrecht / Utrecht University Utrecht, Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Johns Hopkins University (JHU), Weizmann Institute of Science Rehovot, Israël, Rockefeller University New York, The Babraham Institute Cambridge, UK, Riga Stradins University (RSU), University College of London London (UCL), Yale School of Medicine New Haven, Connecticut (YSM), Boston University School of Medicine (BUSM), Boston University Boston (BU), ANR-16-CE16-0018,EPITRACES,Traces épigénétiques neuronales des récompenses(2016)

المصدر: ISSN: 1359-4184.

مصطلحات موضوعية: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/35177825; PUBMED: 35177825

الاتاحة: https://hal.sorbonne-universite.fr/hal-03583440
https://hal.sorbonne-universite.fr/hal-03583440v1/document
https://hal.sorbonne-universite.fr/hal-03583440v1/file/Montalban-et-al_Revised-2_2021-12-16_final-accepted.pdf
https://doi.org/10.1038/s41380-022-01439-4

المؤلفون: Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke JH, Horvath, Rita, Chinnery, Patrick F, Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K, Genomics England Research Consortium, Wood, Nicholas W, Hayer, Stefanie N, Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K, Blahak, Christian, Strom, Tim M, Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E, Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B, Hengel, Holger

المصدر: Genetics in Medicine , 24 (10) pp. 2079-2090. (2022)

مصطلحات موضوعية: Gene burden, Proteomics, Spastic ataxia, UCHL1

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf; https://discovery.ucl.ac.uk/id/eprint/10159885/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10159885/2/Houlden_UCHL1_main_document_PARK_revised_clean%2Bnew%20patient.pdf
https://discovery.ucl.ac.uk/id/eprint/10159885/

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana LT, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi BA, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/367485; https://doi.org/10.17863/CAM.108059

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/367485
https://doi.org/10.17863/CAM.108059

المؤلفون: Konopka, Tomasz, Vestito, Letizia, Smedley, Damian

المساهمون: Forslund, Sofia, National Institutes of Health

المصدر: Bioinformatics Advances ; volume 1, issue 1 ; ISSN 2635-0041

مصطلحات موضوعية: Computer Science Applications, Genetics, Molecular Biology, Structural Biology

الاتاحة: http://dx.doi.org/10.1093/bioadv/vbab026
http://academic.oup.com/bioinformaticsadvances/advance-article-pdf/doi/10.1093/bioadv/vbab026/40554105/vbab026.pdf
https://academic.oup.com/bioinformaticsadvances/article-pdf/1/1/vbab026/47081050/vbab026.pdf

المؤلفون: Bryant, Dale, Seda, Marian, Peskett, Emma, Maurer, Constance, Pomeranz, Gideon, Ghosh, Marcus, Hawkins, Thomas A., Cleak, James, Datta, Sanchari, Hariri, Hanaa, Eckert, Kaitlyn M., Jafree, Daniyal J., Walsh, Claire, Demetriou, Charalambos, Ishida, Miho, Alemán-Charlet, Cristina, Vestito, Letizia, Seselgyte, Rimante, McDonald, Jeffrey G., Bitner-Glindzicz, Maria, Hemberger, Myriam, Rihel, Jason, Teboul, Lydia, Henne, W. Mike, Jenkins, Dagan, Moore, Gudrun E., Stanier, Philip

المساهمون: Medical Research Council Doctoral Training Grant, National Institutes of Health, NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation and University College London, Great Ormond Street Hospital for Children, Tier I Canada Research Chair, Richard King Mellon Foundation, European Research Council Starting Grant, Welch Foundation

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-020-70797-2
https://www.nature.com/articles/s41598-020-70797-2.pdf
https://www.nature.com/articles/s41598-020-70797-2

المؤلفون: Genetica Groep Van Tintelen, Genetica Klinische Genetica, Cancer, Child Health, Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F, Jacobsen, Julius Ob, Arno, Gavin, Behr, Elijah R, Benson, Katherine A, Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R, Burley, Kate, Chan, Li F, Chinnery, Patrick, Conlon, Peter, Costa, Marcos, Davidson, Alice E, Dawson, Sally J, Elhassan, Elhussein, Flanagan, Sarah E, Futema, Marta, Gale, Daniel P, García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R, Hambleton, Sophie, Hicks, Amy R, Houlden, Henry, Houlston, Richard S, Howles, Sarah A, Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah, Morsy, Heba, Mumford, Andrew D, Newman, William G, Neatu, Ruxandra, O'Toole, Edel A, Ong, Albert Cm, Pagnamenta, Alistair T, Rahman, Shamima, Rajan, Neil, Robinson, Peter N, Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A, Shovlin, Claire L, Taylor, Jenny C, Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M, Ware, James S, Watts, Laura M, Webster, Andrew R, Westbury, Sarah K, Zheng, Sean L, Caulfield, Mark, Smedley, Damian

URL: https://doi.org/10.1101/2023.12.20.23300294
http://hdl.handle.net/1874/455875
https://dspace.library.uu.nl/handle/1874/455875
medRxiv

المؤلفون: Ishida, Miho, Vestito, Letizia, Maharaj, Avinaash, Cipriani, Valentina, Smedley, Damian, Storr, Helen

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الاتاحة: http://dx.doi.org/10.1530/endoabs.95.p70
http://www.endocrine-abstracts.org/ea/0095/ea0095P70

المؤلفون: Montalban, Enrica, Giralt, Albert, Taing, Lieng, Schut, Evelien H S, Supiot, Laura F, Castell, Laia, Nakamura, Yuki, de Pins, Benoit, Pelosi, Assunta, Goutebroze, Laurence, Tuduri, Pola, Wang, Wei, Neiburga, Katrina Daila, Vestito, Letizia, Castel, Julien, Luquet, Serge, Nairn, Angus C, Hervé, Denis, Heintz, Nathaniel, Martin, Claire, Greengard, Paul, Valjent, Emmanuel, Meye, Frank J, Gambardella, Nicolas, Roussarie, Jean-Pierre, Girault, Jean-Antoine

المساهمون: TN groep Meye, The Neural Circuits Underlying Stress Eating, Brain

مصطلحات موضوعية: Psychiatry and Mental health, Cellular and Molecular Neuroscience, Molecular Biology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/445803

الاتاحة: https://dspace.library.uu.nl/handle/1874/445803

المؤلفون: Chen, Zhongbo, Cipriani, Valentina, Zhang, David, Tucci, Arianna, Vestito, Letizia, Smedley, Damian, Houlden, Henry, Botia, Juan, Ryten, Mina

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 93, issue 6, page A107.3-A108 ; ISSN 0022-3050 1468-330X

الاتاحة: http://dx.doi.org/10.1136/jnnp-2022-abn.347
https://syndication.highwire.org/content/doi/10.1136/jnnp-2022-ABN.347

المؤلفون: TN groep Meye, The Neural Circuits Underlying Stress Eating, Brain, Montalban, Enrica, Giralt, Albert, Taing, Lieng, Schut, Evelien H S, Supiot, Laura F, Castell, Laia, Nakamura, Yuki, de Pins, Benoit, Pelosi, Assunta, Goutebroze, Laurence, Tuduri, Pola, Wang, Wei, Neiburga, Katrina Daila, Vestito, Letizia, Castel, Julien, Luquet, Serge, Nairn, Angus C, Hervé, Denis, Heintz, Nathaniel, Martin, Claire, Greengard, Paul, Valjent, Emmanuel, Meye, Frank J, Gambardella, Nicolas, Roussarie, Jean-Pierre, Girault, Jean-Antoine

URL: https://doi.org/10.1038/s41380-022-01439-4
http://hdl.handle.net/1874/445803
https://dspace.library.uu.nl/handle/1874/445803
http://www.scopus.com/inward/record.url?scp=85124751776&partnerID=8YFLogxK
1359-4184
Molecular Psychiatry
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2068
2079

المؤلفون: Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L T, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi B A, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew O M, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

المصدر: Faculty Research 2021

مصطلحات موضوعية: JGM, Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult, Life Sciences, Medicine and Health Sciences

Relation: https://mouseion.jax.org/stfb2021/240; https://doi.org/10.1056/nejmoa2035790

الاتاحة: https://mouseion.jax.org/stfb2021/240
https://doi.org/10.1056/nejmoa2035790

المؤلفون: Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger

المصدر: Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2079-2090, 12p

المؤلفون: Vestito, Letizia

المساهمون: Moore, Gudrun, Dawson, Sally, Smedley, Damian

المصدر: Doctoral thesis, UCL (University College London).

Relation: https://discovery.ucl.ac.uk/id/eprint/10180554/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10180554/

المؤلفون: Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M., Kelley, Whitley V., Vestito, Letizia, Sisodiya, Sanjay M., Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D., Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo

المصدر: Genetics in Medicine; November 2023, Vol. 25 Issue: 11