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M

Matilde Laurá

University College London

49H指数
180论文数
7.6K被引数
收录论文 83
发表时间
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VRK1-Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle InvolvementVRK1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
errJournal of the Peripheral Nervous System
IF3.2
err2026-09-11
err0
errOAAI
errManoella 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
err分享
err收藏
Charcot–Marie–Tooth disease and related neuropathiesCharcot-marie-tooth病和相关的神经病变
errNature Reviews Disease Primers
IF60.6
err2026-01-22
err0
PREAI
errJoshua Burns; Vincent Timmerman; Matilde Laurá; Eppie M. Yiu; Maurizio D’Antonio; Bipasha Mukherjee-Clavin; Jonathan De Winter; Steven S. Scherer
err分享
err收藏
Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK皮肤活检作为英国ATTRv淀粉样变性神经病变的诊断工具
errJournal of the Peripheral Nervous System
IF3.2
err2025-06-28
err0
errOAAI
errLuke F. O'Donnell; Victor Zhang; Roy Carganillo; Alexander M. Rossor; Matilde Laura; Mariola Skorupinska; Janet A. Gilbertson; Dorota Rowczenio
err分享
err收藏
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the PhenotypePIGG的隐性变异会导致运动神经病，并伴有可变的传导阻滞，儿童震颤和热性惊厥: 扩大表型
errANNALS OF NEUROLOGY
IF7.7
err2024-10-23
err0
errOAAI
errRecord, Christopher J.; O'Connor, Antoinette; Verbeek, Nienke E.; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C.; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M.; Ivanovic, Vukan; Hennigan, Brian; Mchugh, John C.; Blake, Julian C.; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinead M.; Reilly, Mary M.
err分享
err收藏
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
errANNALS OF NEUROLOGY
IF7.7
err2024-04-13
err3
errOAAI
errDoherty, 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.
err分享
err收藏
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease全基因组测序提高了charcot-marie-tooth病的诊断率
errBRAIN
IF11.7
err2024-03-14
err4
errOAAI
errRecord, Christopher J.; Pipis, Menelaos; Skorupinska, Mariola; Blake, Julian; Poh, Roy; Polke, James M.; Eggleton, Kelly; Nanji, Tina; Zuchner, Stephan; Cortese, Andrea; Houlden, Henry; Rossor, Alexander M.; Laura, Matilde; Reilly, Mary M.
err分享
err收藏
Digenic FLNA and UCHL1 variants resulting in a complex phenotype
errJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
err2024-01-07
err1
PREAI
errPernice, Helena F.; O'Donnell, Luke F.; Rossor, Alexander M.; Laura, Matilde; Record, Christopher J.; Skorupinska, Mariola; Blake, Julian; Poh, Roy; Polke, James; Reilly, Mary M.
err分享
err收藏
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-01-03
err8
errOAAI
errDoherty, 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.
err分享
err收藏
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation
errJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
err2023-11-18
err4
errOAAI
errO'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.
err分享
err收藏
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
errBRAIN
IF11.7
err2023-09-28
err6
errOAAI
errLischka, 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
err分享
err收藏
The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2023-09-01
err0
errOAAI
errRecord, Christopher J.; Laura, Matilde; Rossor, Alexander M.; Reilly, Mary M.
err分享
err收藏
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
errBRAIN
IF11.7
err2023-06-20
err3
errOAAI
errPipis, Menelaos; Won, Seongsik; Poh, Roy; Efthymiou, Stephanie; Polke, James M.; Skorupinska, Mariola; Blake, Julian; Rossor, Alexander M.; Moran, John J.; Munot, Pinki; Muntoni, Francesco; Laura, Matilde; Svaren, John; Reilly, Mary M.
err分享
err收藏
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants由于GJB1变异引起的charcot-marie-tooth病CMTX1的遗传分析和自然史
errBRAIN
IF11.7
err2023-06-07
err12
errOAAI
errRecord, Christopher J.; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M.; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M. E.; Lloyd, Thomas E.; Horvath, Rita; Sadjadi, Reza; Herrmann, David N.; Li, Jun; Walk, David; Yum, Sabrina W.; Lewis, Richard A.; Day, John; Burns, Joshua; Finkel, Richard S.; Saporta, Mario A.; Ramchandren, Sindhu; Weiss, Michael D.; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M.; Zuchner, Stephan; Shy, Michael E.; Scherer, Steven S.; Reilly, Mary M.
err分享
err收藏
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study
errANNALS OF NEUROLOGY
IF7.7
err2022-10-28
err12
PREAI
errFridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laura, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N.; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J.; Lloyd, Thomas E.; Day, John; Siskind, Carly E.; Yum, Sabrina W.; Sadjadi, Reza; Finkel, Richard S.; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.
err分享
err收藏
Virtual Charcot-Marie-Tooth Examination Score A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease
errNEUROLOGY-CLINICAL PRACTICE
IF3.2
err2022-10-01
err2
errOAAI
errPrada, Valeria; Laura, Matilde; Zuccarino, Riccardo; Reilly, Mary M.; Shy, Michael E.
err分享
err收藏
Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy
errJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
err2022-07-22
err1
PREAI
errO'Donnell, Luke Francis; Cortese, Andrea; Rossor, Alexander M.; Laura, Matilde; Blake, Julian; Skorupinska, Mariola; Lunn, Michael P.; Thornton, John S.; Curro, Riccardo; Morrow, Jasper M.; Reilly, Mary M.
err分享
err收藏
Unusual upper limb features in SORD neuropathySORD神经病的上肢异常特征
errJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
err2022-04-13
err3
PREAI
errRecord, Christopher J.; Pipis, Menelaos; Blake, Julian; Curro, Riccardo; Lunn, Michael P.; Rossor, Alexander M.; Laura, Matilde; Cortese, Andrea; Reilly, Mary M.
err分享
err收藏
A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease
errJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
err2021-12-09
err25
errOAAI
errRossor, Alexander Martin; Kapoor, Mahima; Wellington, Henny; Spaulding, Emily; Sleigh, James N.; Burgess, Robert W.; Laura, Matilde; Zetterberg, Henrik; Bacha, Alexa; Wu, Xingyao; Heslegrave, Amanda; Shy, Michael E.; Reilly, Mary M.
err分享
err收藏
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
errNEUROLOGY
IF8.5
err2021-10-26
err2
errOAAI
errDonlevy, Gabrielle A.; Garnett, Sarah P.; Cornett, Kayla M. D.; McKay, Marnee J.; Baldwin, Jennifer N.; Shy, Rosemary R.; Yum, Sabrina W.; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laura, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Sowden, Janet E.; Eichinger, Katy J.; Herrmann, David N.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P.
err分享
err收藏
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype由于NEFH变体引起的2CC型charcot-marie-tooth疾病导致进行性，非长度依赖性，运动主导表型
errJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
err2021-09-13
err11
errOAAI
errPipis, Menelaos; Cortese, Andrea; Polke, James M.; Poh, Roy; Vandrovcova, Jana; Laura, Matilde; Skorupinska, Mariola; Jacquier, Arnaud; Juntas-Morales, Raul; Latour, Philippe; Petiot, Philippe; Sole, Guilhem; Fromes, Yves; Shah, Sachit; Blake, Julian; Choi, Byung-Ok; Chung, Ki Wha; Stojkovic, Tanya; Rossor, Alexander M.; Reilly, Mary M.
err分享
err收藏

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