日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

希腊遗传性痉挛性截瘫的遗传图谱

Koutsis, Georgios; Chelban, Viorica; Kartanou, Chrisoula; Kontogeorgiou, Zoi; Koniari, Chrysoula; Ragazos, Nikolaos; Voudommatis, Charalampos; Zhelcheska, Kristina; Lynch, David S; Maroofian, Reza; Barkhordari, Ehsan; Mohammad, Rahema; Zaganas, Ioannis; Drakos, Minas; Xiromerisiou, Georgia; Dardiotis, Efthymios; Stefanis, Leonidas; Panas, Marios; Houlden, Henry; Karadima, Georgia

Pathology and genetics in a global cohort of Parkinsonian Disorders

全球帕金森病患者队列的病理学和遗传学研究

Wu, Lesley Y; du Toit, Tessa; Georgiades, Tatiana; Stafford, Eleanor J; Levine, Kristin; Fang, Zih-Hua; Jasaityte, Simona; Martinez, Ana-Luisa Gil; Cullinane, Patrick; De Pablo Fernandez, Eduardo; Blauwendraat, Cornelis; Singleton, Andrew B; Scholz, Sonja W; Traynor, Bryan J; Wood, Nicholas; Hardy, John; Chinnery, Patrick; Houlden, Henry; Cain, Richard; Troakes, Claire; Chelban, Viorica; Serrano, Geidy E; Gveric, Djordje; McLean, Catriona; Love, Seth; King, Andrew; Robinson, Andrew C; Roncaroli, Federico; Shepherd, Claire; Halliday, Glenda; Parkkinen, Laura; Morris, Christopher M; Smith, Colin; Beach, Thomas G; Gentleman, Steve; Warner, Thomas T; Lashley, Tammaryn; Jaunmuktane, Zane; Real, Raquel; Morris, Huw R

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

内含子FGF14 GAA重复序列扩增影响多系统萎缩的进展和生存

Chelban, Viorica; Pellerin, David; Vijiaratnam, Nirosen; Lee, Hamin; Goh, Yen Yee; Brown, Lauren; Sambin, Sara; Seilhean, Danielle; Lehericy, Stephane; Iruzubieta, Pablo; Mohammad, Rahema; Self, Eleanor; Scardamaglia, Annarita; Lee, Cameron; Ostrozovicova, Miriama; Dicaire, Marie-Josée; Girges, Christine; Gustavsson, Emil K; Murphy, David; Curless, Toby; Laß, Joshua; Trinh, Joanne; Rittman, Timothy; Rowe, James B; Hadjivassiliou, Marios; Archibald, Neil; Danzi, Matt C; Ashton, Catherine; Roth, Virginie; Wandzel, Marion; Cheung, Warren A; Gveric, Djordje O; De Vil, Bart; Follett, Jordan; Leigh, P Nigel; Beichert, Lukas; Pastinen, Tomi; Bonnet, Céline; Renaud, Mathilde; Meissner, Wassilios G; Sieben, Anne; Crosiers, David; Cras, Patrick; Zuchner, Stephan; Corvol, Jean-Christophe; Farrer, Matthew J; Synofzik, Matthis; Brais, Bernard; Warner, Tom; Morris, Huw R; Jaunmuktane, Zane; Foltynie, Tom; Houlden, Henry

Exenatide Once Weekly in the Treatment of Patients with Multiple System Atrophy.

艾塞那肽每周一次用于治疗多系统萎缩症患者。

Vijiaratnam Nirosen, Girges Christine, Wiegand Martin, Ismail Claudia, Lameirinhas Alexandra, Yarnall Alison, Kirk Cameron, Del-Din Silvia, Rochester Lynn, Kobylecki Christopher, Ambler Gareth, Skene Simon, Houlden Henry, Chelban Viorica, Heslegrave Amanda, Phillips Wendy, Whone Alan, Quinn Niall, Lambert Christian, Dore Charlotte, Morris Huw R, Horrocks Mathew H, Lee Ji Eun, O'Shaughnessy Judi, Li Yazhou, Greig Nigel H, Gandhi Sonia, Libri Vincenzo, Athauda Dilan, Foltynie Tom

Genome sequence analyses identify novel risk loci for multiple system atrophy

基因组序列分析发现了多系统萎缩的新风险位点

Chia, Ruth; Ray, Anindita; Shah, Zalak; Ding, Jinhui; Ruffo, Paola; Fujita, Masashi; Menon, Vilas; Saez-Atienzar, Sara; Reho, Paolo; Kaivola, Karri; Walton, Ronald L; Reynolds, Regina H; Karra, Ramita; Sait, Shaimaa; Akcimen, Fulya; Diez-Fairen, Monica; Alvarez, Ignacio; Fanciulli, Alessandra; Stefanova, Nadia; Seppi, Klaus; Duerr, Susanne; Leys, Fabian; Krismer, Florian; Sidoroff, Victoria; Zimprich, Alexander; Pirker, Walter; Rascol, Olivier; Foubert-Samier, Alexandra; Meissner, Wassilios G; Tison, François; Pavy-Le Traon, Anne; Pellecchia, Maria Teresa; Barone, Paolo; Russillo, Maria Claudia; Marín-Lahoz, Juan; Kulisevsky, Jaime; Torres, Soraya; Mir, Pablo; Periñán, Maria Teresa; Proukakis, Christos; Chelban, Viorica; Wu, Lesley; Goh, Yee Y; Parkkinen, Laura; Hu, Michele T; Kobylecki, Christopher; Saxon, Jennifer A; Rollinson, Sara; Garland, Emily; Biaggioni, Italo; Litvan, Irene; Rubio, Ileana; Alcalay, Roy N; Kwei, Kimberly T; Lubbe, Steven J; Mao, Qinwen; Flanagan, Margaret E; Castellani, Rudolph J; Khurana, Vikram; Ndayisaba, Alain; Calvo, Andrea; Mora, Gabriele; Canosa, Antonio; Floris, Gianluca; Bohannan, Ryan C; Moore, Anni; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio; Kim, Changyoun; Iba, Michiyo; Masliah, Eliezer; Dawson, Ted M; Rosenthal, Liana S; Pantelyat, Alexander; Albert, Marilyn S; Pletnikova, Olga; Troncoso, Juan C; Infante, Jon; Lage, Carmen; Sánchez-Juan, Pascual; Serrano, Geidy E; Beach, Thomas G; Pastor, Pau; Morris, Huw R; Albani, Diego; Clarimon, Jordi; Wenning, Gregor K; Hardy, John A; Ryten, Mina; Topol, Eric; Torkamani, Ali; Chiò, Adriano; Bennett, David A; De Jager, Philip L; Low, Philip A; Singer, Wolfgang; Cheshire, William P; Wszolek, Zbigniew K; Dickson, Dennis W; Traynor, Bryan J; Gibbs, J Raphael; Dalgard, Clifton L; Ross, Owen A; Houlden, Henry; Scholz, Sonja W

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

Viorica Chelban #,Henriette Aksnes #,Reza Maroofian,Lauren C LaMonica,Luis Seabra,Anette Siggervåg,Perrine Devic,Hanan E Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M Natalia Zanetti,Rauan Kaiyrzhanov  ,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V Schottlaender    ,Heba Morsy  ,Annarita Scardamaglia,Ambreen Tariq,Alistair T Pagnamenta,Ajia Pennavaria,Liv S Krogstad,Åse K Bekkelund,Alessia Caiella,Nina Glomnes  ,Kirsten M Brønstad,Sandrine Tury,Andrés Moreno De Luca  0 ,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim    ,Benjamin Cretin    ,Barbara Vona  ,Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller    ,Sahar I Da'as  ,Khalid A Fakhro    ,Alicia Gómez-Pascual,Juan A Botía,Nicholas W Wood  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism

非典型帕金森综合征纵向队列研究中胃造瘘术的发生频率和结果

Kobylecki, Christopher; Chelban, Viorica; Goh, Yee Yen; Michou, Emilia; Fumi, Riona; Theilmann Jensen, Marte; Mohammad, Rahema; Costantini, Alyssa; Vijiaratnam, Nirosen; Pavey, Samantha; Pavese, Nicola; Leigh, P Nigel; Rowe, James B; Hu, Michele T; Church, Alistair; Morris, Huw R; Houlden, Henry

Clinical Practices and Opinions toward Gastrostomy Use in Patients with Atypical Parkinsonian Syndromes: A National Survey in the UK

英国一项全国性调查:非典型帕金森综合征患者胃造瘘术的临床实践和意见

Kobylecki, Christopher; Goh, Yee Yen; Mohammad, Rahema; Beat, Alanna; Michou, Emilia; Pavey, Samantha; Morris, Huw; Houlden, Henry; Chelban, Viorica

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard