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Alexander M. Rossor

UCL Queen Square Institute of Neurology
H指数:40
被引数:6,950

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VRK1-Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

<i>VRK1</i>相关运动神经病变伴上运动神经元体征及选择性肌肉受累

Journal of the Peripheral Nervous System
IF3.2
2026-09-110
OA
Manoella Guerra de Albuquerque Bueno; Diogo Fernandes dos Santos; Alexander M. Rossor; Matilde Laura; Alejandro Horga; Rodrigo Siqueira Soares Frezatti; Eduardo Vaz de Sousa Ferreira; Julian C. Blake; Jasper M. Morrow; Mary M. Reilly; Wilson Marques Júnior; Pedro José Tomaselli
Late-Onset Tay–Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype

迟发性Tay–Sachs病具有SMALED样肌肉MRI模式，尽管临床表型独特

Journal of the Peripheral Nervous System
IF3.2
2026-09-110
OAAI
Rodrigo Siqueira Soares Frezatti; Trajano Aguiar Pires Gonçalves; Manoella Guerra de Albuquerque Bueno; André Clériston José dos Santos; Lindsay A. Wilson; Natalia Dominik; Michael G. Hanna; Jasper Morrow; Alex M. Rossor; Mary M. Reilly; Pedro José Tomaselli; Wilson Marques Junior
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
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
BRAIN COMMUNICATIONS
IF4.5
2024-10-280
OAAI
Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
ANNALS OF NEUROLOGY
IF7.7
2024-04-133
OA
Doherty, Carolynne M.; Howard, Paige; O'Donnell, Luke F.; Zuccarino, Riccardo; Wastling, Stephen; Milev, Evelin; Banks, Tina; Shah, Sachit; Zafeiropoulos, Nick; Stephens, Katherine J.; Sarkozy, Anna; Grider, Tiffany; Feely, Shawna M. E.; Manzur, Adnan; Shy, Rosemary R.; Skorupinska, Mariola; Pipis, Menelaos; Nicolaisen, Emma; Mcdowell, Amy; Dilek, Nuran; Rossor, Alexander M.; Laura, Matilde; Clark, Christopher; Muntoni, Francesco; Thedens, Daniel; Thornton, John; Morrow, Jasper M.; Shy, Michael E.; Reilly, Mary M.
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
BRAIN
IF11.7
2024-03-250
OAAI
Maroofian, Reza; Sarraf, Payam; O'Brien, Thomas J.; Kamel, Mona; Cakar, Arman; Elkhateeb, Nour; Lau, Tracy; Patil, Siddaramappa Jagdish; Record, Christopher J.; Horga, Alejandro; Essid, Miriam; Selim, Laila; Benrhouma, Hanene; Ben Younes, Thouraya; Zifarelli, Giovanni; Pagnamenta, Alistair T.; Bauer, Peter; Khundadze, Mukhran; Mirecki, Andrea; Kamel, Sara Mahmoud; Elmonem, Mohamed A.; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Offiah, Amaka C.; Rossor, Alexander M.; Ben Youssef-Turki, Ilhem; Huebner, Christian A.; Munot, Pinki; Reilly, Mary M.; Brown, Andre E. X.; Nagy, Sara; Houlden, Henry
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-01-038
OA
Doherty, Carolynne M.; Morrow, Jasper M.; Zuccarino, Riccardo; Howard, Paige; Wastling, Stephen; Pipis, Menelaos; Zafeiropoulos, Nick; Stephens, Katherine J.; Grider, Tiffany; Feely, Shawna M. E.; Nopoulous, Peggy; Skorupinska, Mariola; Milev, Evelin; Nicolaisen, Emma; Dudzeic, Magdalena; Mcdowell, Amy; Dilek, Nuran; Muntoni, Francesco; Rossor, Alexander M.; Shah, Sachit; Laura, Matilde; Yousry, Tarek A.; Thedens, Daniel; Thornton, John; Shy, Michael E.; Reilly, Mary M.
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
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2023-11-184
OA
O'Donnell, Luke F.; Pipis, Menelaos; Thornton, John S.; Kanber, Baris; Wastling, Stephen; McDowell, Amy; Zafeiropoulos, Nick; Laura, Matilde; Skorupinska, Mariola; Record, Christopher J.; Doherty, Carolynne M.; Herrmann, David N.; Zetterberg, Henrik; Heslegrave, Amanda J.; Laban, Rhiannon; Rossor, Alexander M.; Morrow, Jasper M.; Reilly, Mary M.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
BRAIN
IF11.7
2023-09-286
OAAI
Lischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo

研究方向

暂未获取到该数据
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
M
Matilde Laurá
H 指数:49论文数:180被引数:7,572
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
J
James M. Polke
H 指数:34论文数:114被引数:4,916
A
Andrea Cortese
H 指数:42论文数:219被引数:6,276
M
Michael E. Shy
H 指数:73论文数:435被引数:1.7万
M
Menelaos Pipis
H 指数:14论文数:46被引数:1,617
M
Mariola Skorupinska
H 指数:14论文数:92被引数:1,358
P
Pedro José Tomaselli
H 指数:20论文数:117被引数:1,735
J
Julian Blake
H 指数:28论文数:105被引数:2,291