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A

Andrea Cortese

UCL Queen Square Institute of Neurology
H指数:42
被引数:6,313

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Susceptibility and screening approaches in systemic amyloidosis: expert perspectives from the International Society of Amyloidosis (ISA)

系统性淀粉样变性中的易感性和筛查方法：国际淀粉样变性学会（ISA）专家观点

Amyloid-Journal of Protein Folding Disorders
IF7.4
2026-09-040
PRE
Taxiarchis Kourelis; Raymond Comenzo; Andrea Cortese; Justin L. Grodin; Martha Grogan; Paolo Milani; Frederick L. Ruberg; Yoshiki Sekijima; Lukas D. Weberling; Efstathios Kastritis; Kevin M. Alexander
Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22-p24 HSN1B Locus

RFC1基因双等位基因扩展的假显性遗传——重新审视3p22-p24 HSN1B位点

Journal of the Peripheral Nervous System
IF3.2
2025-10-140
PRE
Bianca R. Grosz; Melina Ellis; Shuchi Trivedi; Carolin Scriba; Marion Stoll; Danqing Zhu; Sanjog R. Chintalaphani; Igor Stevanovski; Andrea Cortese; Penelope J. Spring; Nigel G. Laing; Ira W. Deveson; Mary M. Reilly; Garth A. Nicholson; Kishore R. Kumar; Steve Vucic; Marina L. Kennerson
Unnerving Cough in CANVAS: Cough Hypersensitivity Despite Airway Nerve Depletion

CANVAS中令人不安的咳嗽：尽管气道神经减少，仍存在咳嗽高敏感性

Lung
IF3.9
2025-08-080
OA
Barnaby Hirons; Katherine Rhatigan; William McNulty; Richard D. Turner; James H. Hull; Caroline J. Jolley; Robert D. Hadden; Ana Ribeiro; Andrea Cortese; Peter S. P. Cho; Safa Al-Sarraj; Jordi Serra; Peter Bannister; Chadwick B. Smith; Matthew G. Drake; Surinder S. Birring
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024)
NATURE COMMUNICATIONS
IF15.7
2024-10-170
OAAI
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina
Increased frequency of repeat expansion mutations across different populations

不同人群重复扩增突变的频率增加

NATURE MEDICINE
IF50
2024-10-013
OAAI
Ibanez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Deforie, Valentina Galassi; Dalmia, Anupriya; Moss, Davina J. Hensman; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping

光学基因组图谱揭示的组织特异性TCF4三联体重复不稳定性

EBIOMEDICINE
IF10.8
2024-10-011
OAAI
Zarouchlioti, Christina; Efthymiou, Stephanie; Facchini, Stefano; Dominik, Natalia; Bhattacharyya, Nihar; Liu, Siyin; Costa, Marcos Abreu; Szabo, Anita; Sadan, Amanda N.; Jun, Albert S.; Bugiardini, Enrico; Houlden, Henry; Cortese, Andrea; Skalicka, Pavlina; Dudakova, Lubica; Muthusamy, Kirithika; Cheetham, Michael E.; Hardcastle, Alison J.; Liskova, Petra; Tuft, Stephen J.; Davidson, Alice E.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
NATURE COMMUNICATIONS
IF15.7
2024-07-272
OAAI
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
2024-04-051
PRE
Xu, Isaac R. L.; Danzi, Matt C.; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M.; Cortese, Andrea; Shy, Michael E.; Scherer, Steven S.; Herrmann, David N.; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G.; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P.; Dohrn, Maike F.; Zuchner, Stephan
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

血清神经丝轻链在复制因子复合物亚基1的画布和疾病谱

MOVEMENT DISORDERS
IF7.6
2023-12-062
OAAI
Quartesan, Ilaria; Vegezzi, Elisa; Curro, Riccardo; Heslegrave, Amanda; Pisciotta, Chiara; Iruzubieta, Pablo; Salvalaggio, Alessandro; Fernande-Eulate, Gorka; Dominik, Natalia; Rugginini, Bianca; Manini, Arianna; Abati, Elena; Facchini, Stefano; Manso, Katarina; Albajar, Ines; Laban, Rhiannon; Rossor, Alexander M.; Pichiecchio, Anna; Cosentino, Giuseppe; Saveri, Paola; Salsano, Ettore; Andreetta, Francesca; Valente, Enza M.; Zetterberg, Henrik; Giunti, Paola; Stojkovic, Tanya; Briani, Chiara; Lopez de Munain, Adolfo; Pareyson, Davide; Reilly, Mary M.; Houlden, Henry; Tassorelli, Cristina; Cortese, Andrea
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-011
OAAI
Pellerin, David; Wilke, Carlo; Traschuez, Andreas; Nagy, Sara; Curro, Riccardo; Dicaire, Marie-Josee; Garcia-Moreno, Hector; Anheim, Mathieu; Wirth, Thomas; Faber, Jennifer; Timmann, Dagmar; Depienne, Christel; Rujescu, Dan; Gazulla, Jose; Reilly, Mary M.; Giunti, Paola; Brais, Bernard; Houlden, Henry; Schoes, Ludger; Strupp, Michael; Cortese, Andrea; Synofzik, Matthis
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
NEUROLOGY-GENETICS
IF3.7
2023-10-0118
OAAI
Novis, Luiz Eduardo; Frezatti, Rodrigo S.; Pellerin, David; Tomaselli, Pedro J.; Alavi, Shahryar; Della Coleta, Marcus Vinicius; Spitz, Mariana; Dicaire, Marie-Josee; Iruzubieta, Pablo; Pedroso, Jose Luiz; Barsottini, Orlando; Cortese, Andrea; Danzi, Matt C.; Franca Jr, Marcondes C.; Brais, Bernard; Zuchner, Stephan; Houlden, Henry; Raskin, Salmo; Marques, Wilson; Teive, Helio A.

研究方向

暂未获取到该数据
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
A
Alexander M. Rossor
H 指数:40论文数:194被引数:6,967
R
Riccardo Curró
H 指数:12论文数:53被引数:753
E
Elisa Vegezzi
H 指数:18论文数:80被引数:1,339
N
Natalia Dominik
H 指数:17论文数:84被引数:976
E
Enrico Marchioni
H 指数:41论文数:237被引数:5,444
A
Adriana Rebelo
H 指数:29论文数:100被引数:3,247
J
James M. Polke
H 指数:34论文数:114被引数:4,929
F
Fiore Manganelli
H 指数:44论文数:401被引数:7,130