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| Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. |
| Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC |
| Epilepsia open. 2018 Dec 21. doi: 10.1002/epi4.12286. pii: EPI412286. pmc: PMC6398114 |
| PMID: 30868117 |
| Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. |
| Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC |
| Frontiers in neurology. 2019 Aug 2. doi: 10.3389/fneur.2019.00821. pmc: PMC6688052 |
| PMID: 31428037 |
| Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. |
| Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC |
| Frontiers in neurology. 2019 Oct 25. doi: 10.3389/fneur.2019.01144. pmc: PMC6823684 |
| PMID: 31708865 |
| The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. |
| Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Nabbout R |
| Frontiers in neurology. 2019 Nov 13. doi: 10.3389/fneur.2019.01182. pmc: PMC6863928 |
| PMID: 31798515 |
| Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype. |
| de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC |
| Frontiers in neurology. 2020 Jul 7. doi: 10.3389/fneur.2020.00603. pmc: PMC7358578 |
| PMID: 32733359 |
| Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study. |
| Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d'Augères G, Carter T, Belousova E, Benedik MP, Cottin V, Curatolo P, Dahlin M, D'Amato L, Ferreira JC, Feucht M, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC |
| Frontiers in neurology. 2020 Aug 28. doi: 10.3389/fneur.2020.00904. pmc: PMC7485558 |
| PMID: 32982929 |
| Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. |
| Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Sauter M |
| Frontiers in neurology. 2020 Sep 16. doi: 10.3389/fneur.2020.00972. pmc: PMC7526256 |
| PMID: 33041968 |
| TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex. |
| Kingswood JC, Belousova E, Benedik MP, Budde K, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC |
| Frontiers in neurology. 2021 Mar 23. doi: 10.3389/fneur.2021.630378. pmc: PMC8021912 |
| PMID: 33833726 |
| Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry. |
| Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Kingswood JC |
| Frontiers in neurology. 2021 Sep 8. doi: 10.3389/fneur.2021.697467. pmc: PMC8455825 |
| PMID: 34566842 |
| High-throughput discovery of novel developmental phenotypes. |
| Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA |
| Nature. 2016 Sep 14. pii: nature19356. doi: 10.1038/nature19356 |
| PMID: 27626380 |
| The genomic history of the Iberian Peninsula over the past 8000 years. |
| Olalde I, Mallick S, Patterson N, Rohland N, Villalba-Mouco V, Silva M, Dulias K, Edwards CJ, Gandini F, Pala M, Soares P, Ferrando-Bernal M, Adamski N, Broomandkhoshbacht N, Cheronet O, Culleton BJ, Fernandes D, Lawson AM, Mah M, Oppenheimer J, Stewardson K, Zhang Z, Jiménez Arenas JM, Toro Moyano IJ, Salazar-García DC, Castanyer P, Santos M, Tremoleda J, Lozano M, García Borja P, Fernández-Eraso J, Mujika-Alustiza JA, Barroso C, Bermúdez FJ, Viguera Mínguez E, Burch J, Coromina N, Vivó D, Cebrià A, Fullola JM, García-Puchol O, Morales JI, Oms FX, Majó T, Vergès JM, Díaz-Carvajal A, Ollich-Castanyer I, López-Cachero FJ, Silva AM, Alonso-Fernández C, Delibes de Castro G, Jiménez Echevarría J, Moreno-Márquez A, Pascual Berlanga G, Ramos-García P, Ramos-Muñoz J, Vijande Vila E, Aguilella Arzo G, Esparza Arroyo Á, Lillios KT, Mack J, Velasco-Vázquez J, Waterman A, Benítez de Lugo Enrich L, Benito Sánchez M, Agustí B, Codina F, de Prado G, Estalrrich A, Fernández Flores Á, Finlayson C, Finlayson G, Finlayson S, Giles-Guzmán F, Rosas A, Barciela González V, García Atiénzar G, Hernández Pérez MS, Llanos A, Carrión Marco Y, Collado Beneyto I, López-Serrano D, Sanz Tormo M, Valera AC, Blasco C, Liesau C, Ríos P, Daura J, de Pedro Michó MJ, Diez-Castillo AA, Flores Fernández R, Francès Farré J, Garrido-Pena R, Gonçalves VS, Guerra-Doce E, Herrero-Corral AM, Juan-Cabanilles J, López-Reyes D, McClure SB, Merino Pérez M, Oliver Foix A, Sanz Borràs M, Sousa AC, Vidal Encinas JM, Kennett DJ, Richards MB, Werner Alt K, Haak W, Pinhasi R, Lalueza-Fox C, Reich D |
| Science (New York, N.Y.). pii: 363/6432/1230. doi: 10.1126/science.aav4040 |
| PMID: 30872528 |
| The formation of human populations in South and Central Asia. |
| Narasimhan VM, Patterson N, Moorjani P, Rohland N, Bernardos R, Mallick S, Lazaridis I, Nakatsuka N, Olalde I, Lipson M, Kim AM, Olivieri LM, Coppa A, Vidale M, Mallory J, Moiseyev V, Kitov E, Monge J, Adamski N, Alex N, Broomandkhoshbacht N, Candilio F, Callan K, Cheronet O, Culleton BJ, Ferry M, Fernandes D, Freilich S, Gamarra B, Gaudio D, Hajdinjak M, Harney É, Harper TK, Keating D, Lawson AM, Mah M, Mandl K, Michel M, Novak M, Oppenheimer J, Rai N, Sirak K, Slon V, Stewardson K, Zalzala F, Zhang Z, Akhatov G, Bagashev AN, Bagnera A, Baitanayev B, Bendezu-Sarmiento J, Bissembaev AA, Bonora GL, Chargynov TT, Chikisheva T, Dashkovskiy PK, Derevianko A, Dobeš M, Douka K, Dubova N, Duisengali MN, Enshin D, Epimakhov A, Fribus AV, Fuller D, Goryachev A, Gromov A, Grushin SP, Hanks B, Judd M, Kazizov E, Khokhlov A, Krygin AP, Kupriyanova E, Kuznetsov P, Luiselli D, Maksudov F, Mamedov AM, Mamirov TB, Meiklejohn C, Merrett DC, Micheli R, Mochalov O, Mustafokulov S, Nayak A, Pettener D, Potts R, Razhev D, Rykun M, Sarno S, Savenkova TM, Sikhymbaeva K, Slepchenko SM, Soltobaev OA, Stepanova N, Svyatko S, Tabaldiev K, Teschler-Nicola M, Tishkin AA, Tkachev VV, Vasilyev S, Velemínský P, Voyakin D, Yermolayeva A, Zahir M, Zubkov VS, Zubova A, Shinde VS, Lalueza-Fox C, Meyer M, Anthony D, Boivin N, Thangaraj K, Kennett DJ, Frachetti M, Pinhasi R, Reich D |
| Science (New York, N.Y.). pii: 365/6457/eaat7487. doi: 10.1126/science.aat7487 |
| PMID: 31488661 |
| The Genomic History of the Bronze Age Southern Levant. |
| Agranat-Tamir L, Waldman S, Martin MAS, Gokhman D, Mishol N, Eshel T, Cheronet O, Rohland N, Mallick S, Adamski N, Lawson AM, Mah M, Michel M, Oppenheimer J, Stewardson K, Candilio F, Keating D, Gamarra B, Tzur S, Novak M, Kalisher R, Bechar S, Eshed V, Kennett DJ, Faerman M, Yahalom-Mack N, Monge JM, Govrin Y, Erel Y, Yakir B, Pinhasi R, Carmi S, Finkelstein I, Carmel L, Reich D |
| Cell. pii: S0092-8674(20)30487-6. doi: 10.1016/j.cell.2020.04.024 |
| PMID: 32470400 |
| Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study. |
| van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Lora FM, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE |
| The Journal of clinical endocrinology and metabolism. 2021 Oct 22. pii: 6408637. doi: 10.1210/clinem/dgab750 |
| PMID: 34679181 |
| Social stratification without genetic differentiation at the site of Kulubnarti in Christian Period Nubia. |
| Sirak KA, Fernandes DM, Lipson M, Mallick S, Mah M, Olalde I, Ringbauer H, Rohland N, Hadden CS, Harney É, Adamski N, Bernardos R, Broomandkhoshbacht N, Callan K, Ferry M, Lawson AM, Michel M, Oppenheimer J, Stewardson K, Zalzala F, Patterson N, Pinhasi R, Thompson JC, Van Gerven D, Reich D |
| Nature communications. 2021 Dec 14. doi: 10.1038/s41467-021-27356-8. pii: 10.1038/s41467-021-27356-8 |
| PMID: 34907168 |
| Large-scale migration into Britain during the Middle to Late Bronze Age. |
| Patterson N, Isakov M, Booth T, Büster L, Fischer CE, Olalde I, Ringbauer H, Akbari A, Cheronet O, Bleasdale M, Adamski N, Altena E, Bernardos R, Brace S, Broomandkhoshbacht N, Callan K, Candilio F, Culleton B, Curtis E, Demetz L, Carlson KSD, Fernandes DM, Foody MGB, Freilich S, Goodchild H, Kearns A, Lawson AM, Lazaridis I, Mah M, Mallick S, Mandl K, Micco A, Michel M, Morante GB, Oppenheimer J, Özdoğan KT, Qiu L, Schattke C, Stewardson K, Workman JN, Zalzala F, Zhang Z, Agustí B, Allen T, Almássy K, Amkreutz L, Ash A, Baillif-Ducros C, Barclay A, Bartosiewicz L, Baxter K, Bernert Z, Blažek J, Bodružić M, Boissinot P, Bonsall C, Bradley P, Brittain M, Brookes A, Brown F, Brown L, Brunning R, Budd C, Burmaz J, Canet S, Carnicero-Cáceres S, Čaušević-Bully M, Chamberlain A, Chauvin S, Clough S, Čondić N, Coppa A, Craig O, Črešnar M, Cummings V, Czifra S, Danielisová A, Daniels R, Davies A, de Jersey P, Deacon J, Deminger C, Ditchfield PW, Dizdar M, Dobeš M, Dobisíková M, Domboróczki L, Drinkall G, Đukić A, Edwards CJ, Ernée M, Evans C, Evans J, Fernández-Götz M, Filipović S, Fitzpatrick A, Fokkens H, Fowler C, Fox A, Gallina Z, Gamble M, González Morales MR, González-Rabanal B, Green A, Gyenesei K, Habermehl D, Hajdu T, Hamilton D, Harris J, Hayden C, Hendriks J, Hernu B, Hey G, Horňák M, Ilon G, Istvánovits E, Jones AM, Kavur MB, Kazek K, Kenyon RA, Khreisheh A, Kiss V, Kleijne J, Knight M, Kootker LM, Kovács PF, Kozubová A, Kulcsár G, Kulcsár V, Le Pennec C, Legge M, Leivers M, Loe L, López-Costas O, Lord T, Los D, Lyall J, Marín-Arroyo AB, Mason P, Matošević D, Maxted A, McIntyre L, McKinley J, McSweeney K, Meijlink B, Mende BG, Menđušić M, Metlička M, Meyer S, Mihovilić K, Milasinovic L, Minnitt S, Moore J, Morley G, Mullan G, Musilová M, Neil B, Nicholls R, Novak M, Pala M, Papworth M, Paresys C, Patten R, Perkić D, Pesti K, Petit A, Petriščáková K, Pichon C, Pickard C, Pilling Z, Price TD, Radović S, Redfern R, Resutík B, Rhodes DT, Richards MB, Roberts A, Roefstra J, Sankot P, Šefčáková A, Sheridan A, Skae S, Šmolíková M, Somogyi K, Somogyvári Á, Stephens M, Szabó G, Szécsényi-Nagy A, Szeniczey T, Tabor J, Tankó K, Maria CT, Terry R, Teržan B, Teschler-Nicola M, Torres-Martínez JF, Trapp J, Turle R, Ujvári F, van der Heiden M, Veleminsky P, Veselka B, Vytlačil Z, Waddington C, Ware P, Wilkinson P, Wilson L, Wiseman R, Young E, Zaninović J, Žitňan A, Lalueza-Fox C, de Knijff P, Barnes I, Halkon P, Thomas MG, Kennett DJ, Cunliffe B, Lillie M, Rohland N, Pinhasi R, Armit I, Reich D |
| Nature. 2021 Dec 22. doi: 10.1038/s41586-021-04287-4. pii: 10.1038/s41586-021-04287-4 |
| PMID: 34937049 |
| Ancient DNA reveals five streams of migration into Micronesia and matrilocality in early Pacific seafarers. |
| Liu YC, Hunter-Anderson R, Cheronet O, Eakin J, Camacho F, Pietrusewsky M, Rohland N, Ioannidis A, Athens JS, Douglas MT, Ikehara-Quebral RM, Bernardos R, Culleton BJ, Mah M, Adamski N, Broomandkhoshbacht N, Callan K, Lawson AM, Mandl K, Michel M, Oppenheimer J, Stewardson K, Zalzala F, Kidd K, Kidd J, Schurr TG, Auckland K, Hill AVS, Mentzer AJ, Quinto-Cortés CD, Robson K, Kennett DJ, Patterson N, Bustamante CD, Moreno-Estrada A, Spriggs M, Vilar M, Lipson M, Pinhasi R, Reich D |
| Science (New York, N.Y.). 2022 Jun 30. doi: 10.1126/science.abm6536 |
| PMID: 35771911 |
| Author Correction: Comparative and demographic analysis of orang-utan genomes. |
| Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, Fulton LA, Fulton RS, Nelson JO, Magrini V, Pohl C, Graves TA, Markovic C, Cree A, Dinh HH, Hume J, Kovar CL, Fowler GR, Lunter G, Meader S, Heger A, Ponting CP, Marques-Bonet T, Alkan C, Chen L, Cheng Z, Kidd JM, Eichler EE, White S, Searle S, Vilella AJ, Chen Y, Flicek P, Ma J, Raney B, Suh B, Burhans R, Herrero J, Haussler D, Faria R, Fernando O, Darré F, Farré D, Gazave E, Oliva M, Navarro A, Roberto R, Capozzi O, Archidiacono N, Della Valle G, Purgato S, Rocchi M, Konkel MK, Walker JA, Ullmer B, Batzer MA, Smit AFA, Hubley R, Casola C, Schrider DR, Hahn MW, Quesada V, Puente XS, Ordoñez GR, López-Otín C, Vinar T, Brejova B, Ratan A, Harris RS, Miller W, Kosiol C, Lawson HA, Taliwal V, Martins AL, Siepel A, RoyChoudhury A, Ma X, Degenhardt J, Bustamante CD, Gutenkunst RN, Mailund T, Dutheil JY, Hobolth A, Schierup MH, Ryder OA, Yoshinaga Y, de Jong PJ, Weinstock GM, Rogers J, Mardis ER, Gibbs RA, Wilson RK |
| Nature. 2022 Aug 12. doi: 10.1038/s41586-022-04799-7. pii: 10.1038/s41586-022-04799-7 |
| PMID: 35962045 |
| 18 Einträge |
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