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Article

Alfano, Lindsay N; Focht Garand, Kendrea L; Malandraki, Georgia A; Salam, Sharfaraz; Machado, Pedro M; Dimachkie, Mazen M; (2022) Measuring change in inclusion body myositis: clinical assessments versus imaging. Clinical and Experimental Rheumatology , 40 (2) pp. 404-413. Green open access
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Alkan, Ferhat; Wilkins, Oscar G; Hernandez-Perez, Santiago; Ramalho, Sofia; Silva, Joana; Ule, Jernej; Faller, William J; (2022) Identifying ribosome heterogeneity using ribosome profiling. Nucleic Acids Research , 50 (16) , Article e95. 10.1093/nar/gkac484. Green open access
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Almannai, M; Marafi, D; Abdel-Salam, GMH; Zaki, MS; Duan, R; Calame, D; Herman, I; ... El-Hattab, AW; + view all (2022) El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clinical Genetics , 101 (5-6) pp. 530-540. 10.1111/cge.14132. Green open access
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Alunno, A; Najm, A; Machado, PM; Bertheussen, H; Burmester, G-RR; Carubbi, F; De Marco, G; ... Mariette, X; + view all (2022) 2021 update of the EULAR points to consider on the use of immunomodulatory therapies in COVID-19. Annals of the Rheumatic Diseases , 81 (1) pp. 34-40. 10.1136/annrheumdis-2021-221366. Green open access
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Ang, Seok-Ting J; Crombie, Elisa MM; Dong, Han; Tan, Kuan-Ting; Hernando, Adriel; Yu, Dejie; Adamson, Stuart; ... Tsai, Shih-Yin; + view all (2022) Muscle 4EBP1 activation modifies the structure and function of the neuromuscular junction in mice. Nature Communications , 13 , Article 7792. 10.1038/s41467-022-35547-0. Green open access
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Arends, Samuel; Drenthen, Judith; van den Bergh, Peter; Franssen, Hessel; Hadden, Robert DM; Islam, Badrul; Kuwabara, Satoshi; ... Cornblath, David R; + view all (2022) Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values. Clinical Neurophysiology , 138 pp. 231-240. 10.1016/j.clinph.2021.12.014. Green open access
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Atkinson, Benjamin N; Willis, Nicky J; Smith, Jennifer; Gill, Rebecca; Ali, Jody; Xu, Zhou; Lai, Ping-Shan; (2022) Large-scale synthesis of Notum inhibitor 1-(2,4-dichloro-3-(trifluoromethyl)-phenyl)-1H-1,2,3-triazole (ARUK3001185) employing a modified Sakai reaction as the key step. RSC Advances , 12 (41) pp. 26497-26503. 10.1039/d2ra05132j. Green open access
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Austin, A; Beresford, L; Price, G; Cunningham, T; Kalmar, B; Yon, M; (2022) Sectioning and Counting of Motor Neurons in the L3 to L6 Region of the Adult Mouse Spinal Cord. Current Protocols , 2 (5) , Article e428. 10.1002/cpz1.428. Green open access
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Aylmore, Holly; Dimitrakakis, Emmanouil; Carmichael, Joshua; Khan, Danyal Z; Stoyanov, Danail; Dorward, Neil L; Marcus, Hani J; (2022) Specialised Surgical Instruments for Endoscopic and Endoscope-Assisted Neurosurgery: A Systematic Review of Safety, Efficacy and Usability. Cancers , 14 (12) , Article 2931. 10.3390/cancers14122931. Green open access
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Banerjee, Gargi; Samra, Kiran; Adams, Matthew E; Jaunmuktane, Zane; Parry-Jones, Adrian Robert; Grieve, Joan; Toma, Ahmed K; ... Werring, David J; + view all (2022) Iatrogenic cerebral amyloid angiopathy: an emerging clinical phenomenon. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2022-328792. (In press). Green open access
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Baraliakos, Xenofon; Ostergaard, Mikkel; Lambert, Robert GW; Eshed, Iris; Machado, Pedro M; Pedersen, Susanne Juhl; Weber, Ulrich; ... Maksymowych, Walter; + view all (2022) MRI lesions of the spine in patients with axial spondyloarthritis: an update of lesion definitions and validation by the ASAS MRI working group. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2021-222081. Green open access
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Barp, Andrea; Merve, Ashirwad; Shah, Sachit; Desikan, Mahalekshmi; Hanna, Michael G; Bugiardini, Enrico; (2022) Anti-HMGCR myopathy: barriers to prompt recognition. Practical Neurology 10.1136/pn-2022-003589. (In press). Green open access
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Bautista, Javier S; Falabella, Micol; Flannery, Padraig J; Hanna, Michael G; Heales, Simon JR; Pope, Simon AS; Pitceathly, Robert DS; (2022) Advances in methods to analyse cardiolipin and their clinical applications. TrAC Trends in Analytical Chemistry , 157 , Article 116808. 10.1016/j.trac.2022.116808. Green open access
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Beijer, Danique; Dohrn, Maike F; De Winter, Jonathan; Fazal, Sarah; Cortese, Andrea; Stojkovic, Tanya; Fernández-Eulate, Gorka; ... Baets, Jonathan; + view all (2022) RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. European Journal of Neurology , 29 (7) pp. 2156-2161. 10.1111/ene.15310. Green open access
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Bennett, Emily; Holmes, Sarah; Koohi, Nehzat; Islam, Saiful; Bancroft, Matthew; Male, Amanda; Hanna, Michael G; ... Kaski, Diego; + view all (2022) Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment. Journal of Neurology , 269 (5) pp. 2788-2791. 10.1007/s00415-021-10921-y. Green open access
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Bermas, BL; Gianfrancesco, M; Tanner, HL; Seet, AM; Aguiar, MC; Al Adhoubi, NK; Emadi, SA; ... Robinson, PC; + view all (2022) COVID-19 in Pregnant Women With Rheumatic Disease: Data From the COVID-19 Global Rheumatology Alliance. The Journal of Rheumatology , 48 (10) pp. 110-114. 10.3899/jrheum.210480. Green open access
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Borgia, Paola; Baldassari, Simona; Pedemonte, Nicoletta; Alkhunaizi, Ebba; D'Onofrio, Gianluca; Tortora, Domenico; Cali, Elisa; ... Salpietro, Vincenzo; + view all (2022) Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders. Orphanet Journal of Rare Diseases , 17 (1) , Article 286. 10.1186/s13023-022-02415-5. Green open access
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Brown, Anna-Leigh; Wilkins, Oscar G; Keuss, Matthew J; Hill, Sarah E; Zanovello, Matteo; Lee, Weaverly Colleen; Bampton, Alexander; ... Fratta, Pietro; + view all (2022) TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature , 603 pp. 131-137. 10.1038/s41586-022-04436-3. Green open access
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Brownlee, Wallace J; Tur, Carmen; Manole, Andreea; Eshaghi, Arman; Prados, Ferran; Miszkiel, Katherine A; Wheeler-Kingshott, Claudia Am Gandini; ... Ciccarelli, Olga; + view all (2022) HLA-DRB1*1501 influences long-term disability progression and tissue damage on MRI in relapse-onset multiple sclerosis. Multiple Sclerosis Journal 10.1177/13524585221130941. (In press). Green open access
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Budhdeo, Sanjay; de Paiva, Anderson Rodrigues Brandao; Wade, Charles; Lopes, Laura Cardia Gomes; Della-Ripa, Bruno; Davagnanam, Indran; Lucato, Leandro; ... Lynch, David S; + view all (2022) A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Journal of Neurology , 269 pp. 6673-6677. 10.1007/s00415-022-11302-9. Green open access
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Bugeon, Stéphane; Duffield, Joshua; Dipoppa, Mario; Ritoux, Anne; Prankerd, Isabelle; Nicoloutsopoulos, Dimitris; Orme, David; ... Harris, Kenneth D; + view all (2022) A transcriptomic axis predicts state modulation of cortical interneurons. Nature 10.1038/s41586-022-04915-7. (In press). Green open access
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Bugiardini, Enrico; Nunes, Andreia M; Oliveira-Santos, Ariany; Dagda, Marisela; Fontelonga, Tatiana M; Barraza-Flores, Pamela; Pittman, Alan M; ... Burkin, Dean J; + view all (2022) Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice. Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease , Article e026494. 10.1161/JAHA.122.026494. (In press). Green open access
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Bull, Daniel; Schweitzer, Christophe; Bichsel, Colette; Britschgi, Markus; Gutbier, Simon; (2022) Generation of an hiPSC-Derived Co-Culture System to Assess the Effects of Neuroinflammation on Blood-Brain Barrier Integrity. Cells , 11 (3) , Article 419. 10.3390/cells11030419. Green open access
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Cabrera-Serrano, M; Caccavelli, L; Savarese, M; Vihola, A; Jokela, M; Johari, M; Capiod, T; ... Ravenscroft, G; + view all (2022) Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain , 145 (11) pp. 3985-3998. 10.1093/brain/awab484. Green open access
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Calame, Daniel G; Herman, Isabella; Maroofian, Reza; Marshall, Aren E; Donis, Karina Carvalho; Fatih, Jawid M; Mitani, Tadahiro; ... Lupski, James R; + view all (2022) Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of Neurology , 92 (2) pp. 304-321. 10.1002/ana.26381. Green open access
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Calì, E; Lin, SJ; Rocca, C; Sahin, Y; Al Shamsi, A; El Chehadeh, S; Chaabouni, M; ... Saadi, NW; + view all (2022) A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genetics in Medicine 10.1016/j.gim.2022.07.013. (In press). Green open access
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Cali, E; Rocca, C; Salpietro, V; Houlden, H; (2022) Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery. Frontiers in Neurology , 12 , Article 806506. 10.3389/fneur.2021.806506. Green open access
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Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; ... Maroofian, Reza; + view all (2022) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine 10.1016/j.gim.2022.09.016. (In press). Green open access
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Cannavo, C; Cleverley, K; Maduro, C; Mumford, P; Moulding, D; Fisher, EMC; Wiseman, FK; (2022) Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome. PLoS ONE , 17 (5) , Article e0262558. 10.1371/journal.pone.0262558. Green open access
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Capano, LS; Sato, C; Ficulle, E; Yu, A; Horie, K; Kwon, JS; Burbach, KF; ... Yoo, AS; + view all (2022) Recapitulation of endogenous 4R tau expression and formation of insoluble tau in directly reprogrammed human neurons. Cell Stem Cell , 29 (6) 918-932.e8. 10.1016/j.stem.2022.04.018. Green open access
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Cappelli, Sara; Spalloni, Alida; Feiguin, Fabian; Visani, Giulia; Šušnjar, Urša; Brown, Anna-Leigh; NYGC ALS, Consortium; ... Buratti, Emanuele; + view all (2022) NOS1AP is a novel molecular target and critical factor in TDP-43 pathology. Brain Communications , 4 (5) , Article fcac242. 10.1093/braincomms/fcac242. Green open access
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Cappon, Davide; Gratwicke, James; Zrinzo, Ludvic; Akram, Harith; Hyam, Jonathan; Hariz, Marwan; Limousin, Patricia; ... Jahanshahi, Marjan; + view all (2022) Deep brain stimulation of the nucleus basalis of Meynert for Parkinson’s disease dementia: a 36 months follow up study. Movement Disorders Clinical Practice , 9 (6) pp. 765-774. 10.1002/mdc3.13510. Green open access
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Carroll, Antonia S; Doherty, Carolynne M; Blake, Julian; Hunt, Stephen J; Hoskote, Chandrashekar; McNicholl, Feargal; Phadke, Rahul; ... Reilly, Mary M; + view all (2022) Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease. Practical Neurology 10.1136/practneurol-2022-003398. (In press). Green open access
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Carvalho, PD; Ruyssen-Witrand, A; Marreiros, A; Machado, PM; (2022) Long-term association between disease activity and disability in early axial spondyloarthritis: results from the DESIR cohort. Arthritis Care & Research , 74 (5) pp. 768-775. 10.1002/acr.24515. Green open access
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Carvalho, PD; Vieira-Sousa, E; Hmamouchi, I; Marreiros, A; Machado, PM; (2022) Determinants of health-related quality of life in spondyloarthritis and rheumatoid arthritis - data from the COMOSPA and COMORA studies. Seminars in Arthritis and Rheumatism , 57 , Article 152086. 10.1016/j.semarthrit.2022.152086. Green open access
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Chelban, Viorica; Nikram, Elham; Perez-Soriano, Alexandra; Wilke, Carlo; Foubert-Samier, Alexandra; Vijiaratnam, Nirosen; Guo, Tong; ... Houlden, Henry; + view all (2022) Neurofilament light levels predict clinical progression and death in multiple system atrophy. Brain , 145 (12) pp. 4398-4408. 10.1093/brain/awac253. Green open access
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Cheng, F; Zheng, W; Barbuti, PA; Bonsi, P; Liu, C; Casadei, N; Ponterio, G; ... Riess, O; + view all (2022) DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family. Brain , 145 (11) pp. 3968-3984. 10.1093/brain/awac001. Green open access
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Cheng, Fubo; Zheng, Wenxu; Liu, Chang; Barbuti, Peter Antony; Yu-Taeger, Libo; Casadei, Nicolas; Huebener-Schmid, Jeannette; ... Riess, Olaf; + view all (2022) Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo. Science Advances , 8 (47) , Article eabq6324. 10.1126/sciadv.abq6324. Green open access
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Chiaravalloti, Nancy D; DeLuca, John; Salter, Amber; Amato, Maria Pia; Brichetto, Giampaolo; Chataway, Jeremy; Dalgas, Ulrik; ... Feinstein, Anthony; + view all (2022) The relationship between processing speed and verbal and non-verbal new learning and memory in progressive multiple sclerosis. Multiple Sclerosis Journal 10.1177/13524585221088190. (In press). Green open access
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China, M; Vastani, A; Hill, CS; Tancu, C; Grover, PJ; (2022) Gamma Knife radiosurgery for cerebral arteriovenous malformations: a systematic review and meta-analysis. Neurosurgical Review 10.1007/s10143-022-01751-1. Green open access
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Chock, Eugenia Yupei; Putman, Michael; Conway, Richard; Danila, Maria I; Hoyer, Bimba; Hsieh, Evelyn; Jayatilleke, Arundathi; ... Cappelli, Laura C; + view all (2022) Experience with telemedicine among rheumatology clinicians during the COVID-19 pandemic: an international survey. Rheumatology Advances in Practice , 6 (2) rkac039. 10.1093/rap/rkac039. Green open access
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Chokesuwattanaskul, A; Marshall, CR; Van Harskamp, N; Houlden, H; Rohrer, J; Hardy, CJD; Warren, JD; (2022) Primary progressive aphasia: ReADing the clinical GRANularity. Practical Neurology 10.1136/practneurol-2022-003460. (In press). Green open access
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Clarke, BE; Kalmar, B; Greensmith, L; (2022) Enhanced Expression of TRAP1 Protects Mitochondrial Function in Motor Neurons under Conditions of Oxidative Stress. International Journal of Molecular Sciences , 23 (3) , Article 1789. 10.3390/ijms23031789. Green open access
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Cogo, Susanna; Ho, Franz Y; Tosoni, Elena; Tomkins, James E; Tessari, Isabella; Iannotta, Lucia; Montine, Thomas J; ... Greggio, Elisa; + view all (2022) The Roc domain of LRRK2 as a hub for protein-protein interactions: a focus on PAK6 and its impact on RAB phosphorylation. Brain Research , 1778 , Article 147781. 10.1016/j.brainres.2022.147781. Green open access
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Conde, Cecilia; Bates, Emily Anne; Garcia, Corina; Lazo, Oscar M; (2022) Editorial: Neuronal cytoskeleton and GTPases in health and diseases. Frontiers in Cell and Developmental Biology , 10 , Article 1025527. 10.3389/fcell.2022.1025527. Green open access
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Courvoisier, Delphine Sophie; Lauper, Kim; Kedra, Joanna; de Wit, Maarten; Fautrel, Bruno; Frisell, Thomas; Hyrich, Kimme L; ... Finckh, Axel; + view all (2022) EULAR points to consider when analysing and reporting comparative effectiveness research using observational data in rheumatology. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2021-221307. (In press). Green open access
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D'Antona, L; Craven, C; Bremner, F; Matharu, M; Thorne, L; Watkins, L; Toma, A; (2022) Effect of position on intracranial pressure and compliance: a cross-sectional study including 101 patients. Journal of Neurosurgery , 136 (6) pp. 1781-1789. 10.3171/2021.6.JNS203573. Green open access
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D'Onofrio, G; Riva, A; Di Rosa, G; Cali', E; Efthymiou, S; Gitto, E; Madia, F; ... Soler, D; + view all (2022) Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review. Brain and Development , 44 (7) pp. 469-473. 10.1016/j.braindev.2022.03.010. Green open access
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Dafsari, HS; Pemberton, JG; Ferrer, EA; Yammine, T; Farra, C; Mohammadi, MH; Ghayoor Karimiani, E; ... Maroofian, R; + view all (2022) PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy. Annals of Clinical and Translational Neurology 10.1002/acn3.51634. (In press). Green open access
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Das, Adrito; Bano, Sophia; Vasconcelos, Francisco; Khan, Danyal Z; Marcus, Hani J; Stoyanov, Danail; (2022) Reducing Prediction volatility in the surgical workflow recognition of endoscopic pituitary surgery. International Journal of Computer Assisted Radiology and Surgery 10.1007/s11548-022-02599-y. (In press). Green open access
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DiIorio, Michael; Kennedy, Kevin; Liew, Jean W; Putman, Michael S; Sirotich, Emily; Sattui, Sebastian E; Foster, Gary; ... Sparks, Jeffrey A; + view all (2022) Prolonged COVID-19 symptom duration in people with systemic autoimmune rheumatic diseases: results from the COVID-19 Global Rheumatology Alliance Vaccine Survey. RMD Open , 8 (2) , Article e002587. 10.1136/rmdopen-2022-002587. Green open access
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Doets, Alex Y; Walgaard, Christa; Lingsma, Hester F; Islam, Badrul; Papri, Nowshin; Yamagishi, Yuko; Kusunoki, Susumu; ... Jacobs, Bart C; + view all (2022) International Validation of the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score. Annals of Neurology , 91 (4) pp. 521-531. 10.1002/ana.26312. Green open access
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DOLPHIN-UK Collaborators, .; (2022) A standardised protocol for neuro-endoscopic lavage for post-haemorrhagic ventricular dilatation: A Delphi consensus approach. Child's Nervous System , 38 pp. 2181-2187. 10.1007/s00381-022-05632-2. Green open access
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Elmansy, Mostafa; Morrow, Jasper M; Shah, Sachit; Fischmann, Arne; Wastling, Stephen; Reilly, Mary M; Hanna, Michael G; ... Yousry, Tarek A; + view all (2022) Evidence of nerve hypertrophy in patients with inclusion body myositis on lower limb MRI. Muscle & Nerve , 66 (6) pp. 744-749. 10.1002/mus.27728. Green open access
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Farisogullari, Bayram; Pinto, Ana S; Machado, Pedro M; (2022) COVID-19-associated arthritis: an emerging new entity? RMD Open , 8 (2) , Article e002026. 10.1136/rmdopen-2021-002026. Green open access
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Feinstein, Anthony; Amato, Maria Pia; Brichetto, Giampaolo; Chataway, Jeremy; Chiaravalloti, Nancy D; Cutter, Gary; Dalgas, Ulrik; ... Salter, Amber; + view all (2022) The late onset of emotional distress in people with progressive multiple sclerosis during the Covid-19 pandemic: longitudinal findings from the CogEx study. Journal of Neurology , 269 pp. 6202-6210. 10.1007/s00415-022-11295-5. Green open access
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Ferreira, Ricardo JO; Welsing, Paco MJ; Jacobs, Johannes Wg; Gossec, Laure; Ndosi, Mwidimi; Machado, Pedro M; van der Heijde, Désirée; (2022) Correspondence on 'Re-examining remission definitions in rheumatoid arthritis: considering the 28-joint Disease Activity Score, C reactive protein level and patient global assessment' by Felson et al. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2021-221917. (In press). Green open access
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Ferreira, Ricardo JO; Welsing, Paco MJ; Jacobs, Johannes WG; Gossec, Laure; Ndosi, Mwidimi; Machado, Pedro M; van der Heijde, Désirée; (2022) Correspondence on "Re-examining remission definitions in rheumatoid arthritis: considering the 28-Joint Disease Activity Score, C-reactive protein level and patient global assessment" by Felson et al. ACR Open Rheumatology , 4 (3) pp. 271-272. 10.1002/acr2.11402. Green open access
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Ferreira, RJO; Welsing, PMJ; Jacobs, JWG; Gossec, L; Ndosi, M; Machado, PM; Van der Heijde, D; (2022) Reexamining remission definitions in rheumatoid arthritis: considering the 28-joint Disease Activity Score, C-reactive protein level, and patient global assessment: comment on the article by Felson et al. Arthritis Care & Research , 74 (3) pp. 501-502. 10.1002/acr.24843. Green open access
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Forouhan, Mitra; Lim, Wooi Fang; Zanetti-Domingues, Laura C; Tynan, Christopher J; Roberts, Thomas C; Malik, Bilal; Manzano, Raquel; ... Rinaldi, Carlo; + view all (2022) AR cooperates with SMAD4 to maintain skeletal muscle homeostasis. Acta Neuropathologica , 143 (6) pp. 713-731. 10.1007/s00401-022-02428-1. Green open access
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Freua, Fernando; Almeida, Mariana Espíndola de Castro; Nóbrega, Paulo Ribeiro; Paiva, Anderson Rodrigues Brandáo de; Della-Ripa, Bruno; Cunha, Paulina; Macedo-Souza, Lúcia Inês; ... Kok, Fernando; + view all (2022) Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. Molecular Case Studies , Article mcs.a006232. 10.1101/mcs.a006232. (In press). Green open access
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Gaastra, B; Alexander, S; Bakker, MK; Bhagat, H; Bijlenga, P; Blackburn, S; Collins, MK; ... Tapper, W; + view all (2022) Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol. Translational Stroke Research 10.1007/s12975-021-00978-2. (In press). Green open access
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Gaastra, Ben; Alexander, Sheila; Bakker, Mark K; Bhagat, Hemant; Bijlenga, Philippe; Blackburn, Spiros L; Collins, Malie K; ... Bulters, Diederik; + view all (2022) A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis. Translational Stroke Research 10.1007/s12975-022-01095-4. (In press). Green open access
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Galloway, M; Machado, PM; (2022) Axial spondyloarthritis. Medicine , 50 (3) pp. 159-166. 10.1016/j.mpmed.2021.12.005. Green open access
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Garcia de Lomana, Marina; Svensson, Fredrik; Volkamer, Andrea; Mathea, Miriam; Kirchmair, Johannes; (2022) Consideration of predicted small-molecule metabolites in computational toxicology. Digital Discovery 10.1039/d1dd00018g. (In press). Green open access
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Glover, Isabel S; Baker, Stuart N; (2022) Both Corticospinal and Reticulospinal Tracts Control Force of Contraction. The Journal of Neuroscience 10.1523/JNEUROSCI.0627-21.2022. (In press). Green open access
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Gomes Rodrigues, Filipa; Pipis, Menelaos; Heeren, Tjebo FC; Fruttiger, Marcus; Gantner, Mari; Vermeirsch, Sandra; Okada, Mali; ... Egan, Catherine; + view all (2022) Description of a patient cohort with Hereditary Sensory Neuropathy Type 1 without retinal disease Macular Telangiectasia type 2 – implications for retinal screening in HSN1. Journal of the Peripheral Nervous System , 27 (3) pp. 215-224. 10.1111/jns.12508. Green open access
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Guja, A; Morrow Jasper, M; Adnan, M; Roxana, G; Roberta, B; Eugenio, M; Reilly, MR; ... Yousry, TA; + view all (2022) Muscle "islands": an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness. Neuromuscular Disorders , 32 (2) pp. 142-149. 10.1016/j.nmd.2021.11.003. Green open access
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Hagemann, Cathleen; Moreno Gonzalez, Carmen; Guetta, Ludovica; Tyzack, Giulia; Chiappini, Ciro; Legati, Andrea; Patani, Rickie; (2022) Axonal Length Determines Distinct Homeostatic Phenotypes in Human iPSC Derived Motor Neurons on a Bioengineered Platform. Advanced Healthcare Materials , 11 (10) , Article 2101817. 10.1002/adhm.202101817. Green open access
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Hanrahan, John Gerrard; Khan, Danyal Zaman; Marcus, Hani J; (2022) Addressing the reporting chasm of artificial intelligence research: the DECIDE-AI reporting guidelines. BMJ Surgery, Interventions, & Health Technologies , 4 (1) , Article e000154. 10.1136/bmjsit-2022-000154. Green open access
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Herbst, Susanne; Lewis, Patrick A; Morris, Huw R; (2022) The emerging role of LRRK2 in tauopathies. Clinical Science , 136 (13) pp. 1071-1079. 10.1042/CS20220067. Green open access
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Hernandez Alava, Monica; Wailoo, Allan; Chrysanthou, Georgios; Barcelos, Filipe; van Gaalen, Floris A; Santos, Helena; Fagerli, Karen Minde; ... Machado, Pedro M; + view all (2022) Measuring quality of life of patients with axial spondyloarthritis for economic evaluation. RMD Open , 8 (1) , Article e001955. 10.1136/rmdopen-2021-001955. Green open access
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Hey, Hwee Weng Dennis; Lam, Wing Moon Raymond; Chan, Chloe Xiaoyun; Zhuo, Wen-Hai; Crombie, Elisa Marie; Tan, Tuan Chun; Chen, Way Cherng; ... Tsai, Shih Yin; + view all (2022) Paraspinal myopathy-induced intervertebral disc degeneration and thoracolumbar kyphosis in TSC1mKO mice model—a preliminary study. The Spine Journal , 22 (3) pp. 483-494. 10.1016/j.spinee.2021.09.003. Green open access
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Hill, CS; Henker, C; Höhne, J; (2022) Editorial: Decompressive Craniectomy and Cranioplasty - Challenges and Chances. Frontiers in Surgery , 9 , Article 945290. 10.3389/fsurg.2022.945290. Green open access
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Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; ... Hengel, Holger; + view all (2022) Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genetics in Medicine , 24 (10) pp. 2079-2090. 10.1016/j.gim.2022.07.006. Green open access
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Petric-Howe, Marija; Crerar, Hamish; Neeves, Jacob; Harley, Jasmine; Tyzack, Giulia; Klein, Pierre; Ramos, Andres; ... Luisier, Raphaelle; + view all (2022) Physiological intron retaining transcripts in the cytoplasm abound during human motor neurogenesis. Genome Research 10.1101/gr.276898.122. (In press). Green open access
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Phadke, L; Lau, DHW; Aghaizu, ND; Ibarra, S; Navarron, CM; Granat, L; Magno, L; ... Jolly, S; + view all (2022) A primary rodent triculture model to investigate the role of glia-neuron crosstalk in regulation of neuronal activity. Frontiers in Aging Neuroscience , 14 , Article 1056067. 10.3389/fnagi.2022.1056067. Green open access
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Pinto, Ana Sofia; Farisogullari, Bayram; Machado, Pedro M; (2022) Predictors of remission in people with axial spondyloarthritis: A systematic literature review. Seminars in Arthritis and Rheumatism , 56 , Article 152078. 10.1016/j.semarthrit.2022.152078. Green open access
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Pizzamiglio, C; Vernon, HJ; Hanna, MG; Pitceathly, RDS; (2022) Designing clinical trials for rare diseases: unique challenges and opportunities. Nature Reviews Methods Primers , 2 , Article 13. 10.1038/s43586-022-00100-2. Green open access
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Pizzamiglio, Chiara; Machado, Pedro M; Thomas, Rhys H; Gorman, Gráinne S; McFarland, Robert; Hanna, Michael G; Pitceathly, Robert DS; (2022) COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study. Neurology 10.1212/WNL.0000000000200240. (In press). Green open access
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Pizzamiglio, Chiara; Pitceathly, Robert DS; Lunn, Michael P; Brady, Stefen; De Marchi, Fabiola; Galan, Lucia; Heckmann, Jeannine M; ... Neuromuscular Diseases and COVID-19, Study Group; + view all (2022) Factors Associated with the Severity of COVID-19 Outcomes in People with Neuromuscular Diseases: Data from the International Neuromuscular COVID-19 Registry. European Journal of Neurology 10.1111/ene.15613. (In press). Green open access
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Putman, Michael; Kennedy, Kevin; Sirotich, Emily; Liew, Jean W; Sattui, Sebastian E; Moni, Tarin T; Akpabio, Akpabio A; ... Simard, Julia F; + view all (2022) COVID-19 vaccine perceptions and uptake: results from the COVID-19 Global Rheumatology Alliance Vaccine Survey. The Lancet Rheumatology 10.1016/S2665-9913(22)00001-7. (In press). Green open access
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Qin, Xing; Wu, Peng; Wen, Ting; Jia, Rui; Zhang, Ronghua; Jin, Jiaoting; Hu, Fangfang; ... Dang, Jingxia; + view all (2022) Comparative assessment of blood Metal/metalloid levels, clinical heterogeneity, and disease severity in amyotrophic lateral sclerosis patients. NeuroToxicology , 89 pp. 12-19. 10.1016/j.neuro.2022.01.003. Green open access
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Ramiro, Sofia; Nikiphorou, Elena; Sepriano, Alexandre; Ortolan, Augusta; Webers, Casper; Baraliakos, Xenofon; Landewé, Robert BM; ... Van der Heijde, Désirée; + view all (2022) ASAS-EULAR recommendations for the management of axial spondyloarthritis: 2022 update. Annals of the Rheumatic Diseases 10.1136/ard-2022-223296. (In press). Green open access
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Record, Christopher; Pipis, Menelaos; Curro, riccardo; Blake, Julian; Lunn, Michael; Rossor, Alexander; Laura, matilde; ... Reilly, mary; + view all (2022) Unusual upper limb features in SORD neuropathy. Journal of the Peripheral Nervous System , 27 (2) pp. 175-177. 10.1111/jns.12492. Green open access
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Record, Christopher J; Alsukhni, Rana Alnasser; Curro, Riccardo; Kaski, Diego; Rubin, John S; Morris, Huw R; Cortese, Andrea; ... Reilly, Mary M; + view all (2022) Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism. Journal of the Peripheral Nervous System , 27 (4) pp. 311-315. 10.1111/jns.12515. Green open access
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Record, Christopher J; Pipis, Menelaos; Poh, Roy; Polke, James M; Reilly, Mary M; (2022) Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2022-330223. (In press). Green open access
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Rhymes, Elena R; Tosolini, Andrew P; Fellows, Alexander D; Mahy, William; McDonald, Neil Q; Schiavo, Giampietro; (2022) Bimodal regulation of axonal transport by the GDNF-RET signalling axis in healthy and diseased motor neurons. Cell Death & Disease , 13 (7) , Article 584. 10.1038/s41419-022-05031-0. Green open access
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Robinson, PC; Machado, PM; Haroon, N; Gensler, LS; Reveille, JD; Taieb, V; Vaux, T; ... Deodhar, A; + view all (2022) Minimal Impact of the COVID-19 Pandemic on Disease Activity and Health-Related Quality of Life in Patients With Ankylosing Spondylitis Receiving Bimekizumab: Exploratory Analyses From a Phase 2b Open-Label Extension Study. ACR Open Rheumatology 10.1002/acr2.11486. (In press). Green open access
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Ronzano, Remi; Skarlatou, Sophie; Barriga, Bianca K; Bannatyne, B Anne; Bhumbra, Gardave Singh; Foster, Joshua D; Moore, Jeffrey D; ... Beato, Marco; + view all (2022) Spinal premotor interneurons controlling antagonistic muscles are spatially intermingled. eLife , 11 10.7554/eLife.81976. (In press). Green open access
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Roos, P; Johannsen, P; Lindquist, SG; Brown, JM; Waldemar, G; Duno, M; Nielsen, TT; ... Nielsen, JE; + view all (2022) Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival. Acta Neurologica Scandinavica , 145 (5) pp. 529-540. 10.1111/ane.13578. Green open access
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Rosenhahn, E; O'Brien, TJ; Zaki, MS; Sorge, I; Wieczorek, D; Rostasy, K; Vitobello, A; ... Platzer, K; + view all (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics , 109 (8) pp. 1421-1435. 10.1016/j.ajhg.2022.06.008. Green open access
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Rovira, Eric; Moreno, Beatriz; Razquin, Nerea; Hjerpe, Roland; Gonzalez-Lopez, Monika; Barrio, Rosa; de los Mozos, Igor Ruiz; ... Fortes, Puri; + view all (2022) U1A is a positive regulator of the expression of heterologous and cellular genes involved in cell proliferation and migration. Molecular Therapy - Nucleic Acids , 28 pp. 831-846. 10.1016/j.omtn.2022.05.023. Green open access
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Ruz, Clara; Alcantud, José Luis; Vives, Francisco; Arrebola, Francisco; Hardy, John; Lewis, Patrick A; Manzoni, Claudia; (2022) Seventy-Two-Hour LRRK2 Kinase Activity Inhibition Increases Lysosomal GBA Expression in H4, a Human Neuroglioma Cell Line. International Journal of Molecular Sciences , 23 (13) , Article 6935. 10.3390/ijms23136935. Green open access
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Sadnicka, Anna; Rocchi, Lorenzo; Latorre, Anna; Antelmi, Elena; Teo, James; Pareés, Isabel; Hoffland, Britt S; ... Rothwell, John C; + view all (2022) A Critical Investigation of Cerebellar Associative Learning in Isolated Dystonia. Movement Disorders 10.1002/mds.28967. (In press). Green open access
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Salam, Sharfaraz; Dimachkie, Mazen M; Hanna, Michael G; Machado, Pedro M; (2022) Diagnostic and prognostic value of anti-cN1A antibodies in inclusion body myositis. Clinical and Experimental Rheumatology , 40 (2) pp. 384-393. Green open access
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Salayev, Kamran; Rocca, Clarissa; Kaiyrzhanov, Rauan; Guliyeva, Ulviyya; Guliyeva, Sughra; Mursalova, Aytan; Rahman, Fatima; ... Houlden, Henry; + view all (2022) AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. European Journal of Medical Genetics , 65 (11) , Article 104620. 10.1016/j.ejmg.2022.104620. Green open access
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Salpietro, Vincenzo; Galassi-Deforie, Valentina; Efthymiou, Stephanie; O'Connor, Emer; Marcé-Grau, Anna; Maroofian, Reza; Striano, Pasquale; ... Männikkö, Roope; + view all (2022) De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy. Epilepsia , 64 (2) pp. 443-455. 10.1111/epi.17455. Green open access
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Savvatis, K; Vissing, CR; Klouvi, L; Florian, A; Rahman, M; Béhin, A; Fayssoil, A; ... Wahbi, K; + view all (2022) Cardiac Outcomes in Adults With Mitochondrial Diseases. Journal of the American College of Cardiology , 80 (15) pp. 1421-1430. 10.1016/j.jacc.2022.08.716. Green open access
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Scala, M; Wortmann, SB; Kaya, N; Stellingwerff, MD; Pistorio, A; Glamuzina, E; van Karnebeek, CD; ... Houlden, H; + view all (2022) Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human Mutation 10.1002/humu.24326. (In press). Green open access
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Schiff, Elena R; Aychoua, Nancy; Nutan, Savita; Davagnanam, Indran; Moore, Anthony T; Robson, AG; Patel, CK; ... Arno, Gavin; + view all (2022) Variability of retinopathy consequent upon novel mutations in LAMA1. Ophthalmic Genetics , 43 (5) pp. 671-678. 10.1080/13816810.2022.2076283. Green open access
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Schmidt, Annika; Frei, Jana; Poetsch, Ansgar; Chittka, Alexandra; Zhang, Hui; Assmann, Chris; Lehmkuhl, Anne; ... Cardoso, M Cristina; + view all (2022) MeCP2 heterochromatin organization is modulated by arginine methylation and serine phosphorylation. Frontiers in Cell and Developmental Biology , 10 , Article 941493. 10.3389/fcell.2022.941493. Green open access
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Schumacher-Schuh, Artur Francisco; Bieger, Andrei; Okunoye, Olaitan; Mok, Kin Ying; Lim, Shen-Yang; Bardien, Soraya; Ahmad-Annuar, Azlina; ... Global Parkinson's Genetics Program (GP2), .; + view all (2022) Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions. Movement Disorders , 37 (8) pp. 1593-1604. 10.1002/mds.29126. Green open access
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Schwarz, G; Banerjee, G; Hostettler, IC; Ambler, G; Seiffge, DJ; Ozkan, H; Browning, S; ... Werring, DJ; + view all (2022) MRI and CT imaging biomarkers of cerebral amyloid angiopathy in lobar intracerebral hemorrhage. International Journal of Stroke 10.1177/17474930211062478. (In press). Green open access
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Shetty, A; Delanerolle, G; Zeng, Y; Shi, JQ; Ebrahim, R; Pang, J; Hapangama, D; ... Phiri, P; + view all (2022) A systematic review and meta-analysis of digital application use in clinical research in pain medicine. Frontiers in Digital Health , 4 , Article 850601. 10.3389/fdgth.2022.850601. Green open access
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Skorvanek, M; Rektorova, I; Mandemakers, W; Wagner, M; Steinfeld, R; Orec, L; Han, V; ... Jech, R; + view all (2022) WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism & Related Disorders , 94 pp. 54-61. 10.1016/j.parkreldis.2021.11.030. Green open access
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Sleigh, James; (2022) Editorial: Peripheral nerve anatomy in health and disease. Journal of Anatomy , 241 (5) pp. 1083-1088. Green open access
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Smethurst, Phillip; Franklin, Hannah; Clarke, Benjamin E; Sidle, Katie; Patani, Rickie; (2022) The role of astrocytes in prion-like mechanisms of neurodegeneration. Brain , Article awab366. 10.1093/brain/awab366. (In press). Green open access
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Smith, CC; Brownstone, RM; (2022) Electrical Properties of Adult Mammalian Motoneurons. Advances in Neurobiology , 28 pp. 191-232. 10.1007/978-3-031-07167-6_9. Green open access
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Soutar, Marc PM; Melandri, Daniela; O'Callaghan, Benjamin; Annuario, Emily; Monaghan, Amy E; Welsh, Natalie J; D'Sa, Karishma; ... Plun-Favreau, Hélène; + view all (2022) Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. Brain 10.1093/brain/awac325. (In press). Green open access
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Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Ferguson, James M; Pineda, Sandy S; Scriba, Carolin K; Tchan, Michel; ... Deveson, Ira W; + view all (2022) Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science Advances , 8 (9) , Article eabm5386. 10.1126/sciadv.abm5386. Green open access
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Šušnjar, Urša; Škrabar, Neva; Brown, Anna-Leigh; Abbassi, Yasmine; Phatnani, Hemali; NYGC ALS Consortium, .; Cortese, Andrea; ... Buratti, Emanuele; + view all (2022) Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology , 5 , Article 314. 10.1038/s42003-022-03253-8. Green open access
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Tábara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O; ... Baple, Emma L; + view all (2022) TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain , Article awac123. 10.1093/brain/awac123. (In press). Green open access
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Tabara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O; ... Baple, Emma L; + view all (2022) TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia (vol 145, pg 3095, 2022). Brain , 145 (10) , Article E103. 10.1093/brain/awac254. Green open access
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Taha, DM; Clarke, BE; Hall, CE; Tyzack, GE; Ziff, OJ; Greensmith, L; Kalmar, B; ... Patani, R; + view all (2022) Astrocytes display cell autonomous and diverse early reactive states in familial amyotrophic lateral sclerosis. Brain , Article awab328. 10.1093/brain/awab328. (In press). Green open access
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Thiry, Louise; Lemaire, Chloé; Rastqar, Ali; Lemieux, Maxime; Peng, Jimmy; Ferent, Julien; Roussel, Marie; ... Bretzner, Frédéric; + view all (2022) Heterozygous Dcc mutant mice have a subtle locomotor phenotype. eNeuro 10.1523/eneuro.0216-18.2021. Green open access
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Thomas, Q; Motta, M; Gautier, T; Zaki, MS; Ciolfi, A; Paccaud, J; Girodon, F; ... Vitobello, A; + view all (2022) Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. American Journal of Human Genetics , 109 (10) pp. 1909-1922. 10.1016/j.ajhg.2022.08.008. Green open access
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Tosolini, Andrew; Sleigh, James; Surana, Sunaina; Rhymes, Elena; Cahalan, Stephen; Schiavo, Giampietro; (2022) BDNF-dependent modulation of axonal transport is selectively impaired in ALS. Acta Neuropathologica Communications , 10 , Article 121. 10.1186/s40478-022-01418-4. Green open access
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Ugarte-Gil, Manuel Francisco; Alarcón, Graciela S; Izadi, Zara; Duarte-García, Ali; Reátegui-Sokolova, Cristina; Clarke, Ann Elaine; Wise, Leanna; ... Yazdany, Jinoos; + view all (2022) Characteristics associated with poor COVID-19 outcomes in individuals with systemic lupus erythematosus: data from the COVID-19 Global Rheumatology Alliance. Annals of the Rheumatic Diseases 10.1136/annrheumdis-2021-221636. (In press). Green open access
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van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna-Elina; Muona, Mikko; ... Houlden, Henry; + view all (2022) Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain , 145 (7) pp. 2301-2312. 10.1093/brain/awac116. Green open access
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Vargas, Jobert; Sleigh, James; Schiavo, Giampietro; (2022) Coupling axonal mRNA transport and local translation to organelle maintenance and function. Current Opinion in Cell Biology , 74 pp. 97-103. 10.1016/j.ceb.2022.01.008. Green open access
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Varier, Radhika A; Sideri, Theodora; Capitanchik, Charlotte; Manova, Zornitsa; Calvani, Enrica; Rossi, Alice; Edupuganti, Raghu R; ... van Werven, Folkert J; + view all (2022) N6-methyladenosine (m6A) reader Pho92 is recruited co-transcriptionally and couples translation to mRNA decay to promote meiotic fitness in yeast. eLife , 11 , Article e84034. 10.7554/eLife.84034. Green open access
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Vegezzi, Elisa; Cortese, Andrea; Bergsland, Niels; Mussinelli, Roberta; Paoletti, Matteo; Solazzo, Francesca; Currò, Riccardo; ... Pichiecchio, Anna; + view all (2022) Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study. Journal of Neurology 10.1007/s00415-022-11336-z. (In press). Green open access
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Verzat, C; Harley, J; Patani, R; Luisier, R; (2022) Image-based deep learning reveals the responses of human motor neurons to stress and VCP-related ALS. Neuropathology and Applied Neurobiology , 48 (2) , Article e12770. 10.1111/nan.12770. Green open access
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Vichayanrat, Ekawat; Valerio, Fernanda; Koay, Shiwen; De Pablo-Fernandez, Eduardo; Panicker, Jalesh; Morris, Huw; Bhatia, Kailash; ... Iodice, Valeria; + view all (2022) Diagnosing Premotor Multiple System Atrophy: Natural History and Autonomic Testing in an Autopsy Confirmed Cohort. Neurology , 99 (11) e1168-e1177. 10.1212/WNL.0000000000200861. Green open access
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Vijiaratnam, Nirosen; Lawton, Michael; Heslegrave, Amanda J; Guo, Tong; Tan, Manuela; Jabbari, Edwin; Real, Raquel; ... PRoBaND clinical consortium; + view all (2022) Combining biomarkers for prognostic modelling of Parkinson's disease. Journal of Neurology, Neurosurgery and Psychiatry (JNNP) 10.1136/jnnp-2021-328365. (In press). Green open access
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Visser-Vandewalle, Veerle; Andrade, Pablo; Mosley, Philip E; Greenberg, Benjamin D; Schuurman, Rick; McLaughlin, Nicole C; Voon, Valerie; ... Okun, Michael S; + view all (2022) Deep brain stimulation for obsessive-compulsive disorder: a crisis of access. Nature Medicine , 28 (8) pp. 1529-1532. 10.1038/s41591-022-01879-z. Green open access
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Vivekanandam, V; Männikkö, R; Skorupinska, I; Germain, L; Gray, B; Wedderburn, S; Kozyra, D; ... Matthews, E; + view all (2022) Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity. Brain , 145 (6) pp. 2108-2120. 10.1093/brain/awab445. Green open access
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Vivekanandam, Vinojini; Ellmers, Rebecca; Jayaseelan, Dipa; Houlden, Henry; Männikkö, Roope; Hanna, Michael G; (2022) In silico versus functional characterization of genetic variants: lessons from muscle channelopathies. Brain , 146 (4) pp. 1316-1321. 10.1093/brain/awac431. Green open access
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Vivekanandam, Vinojini; Jayaseelan, Dipa; Hanna, Michael G; (2022) COVID‐19 infection and vaccination in patients with Skeletal Muscle Channelopathies. Muscle & Nerve , 66 (5) pp. 617-620. 10.1002/mus.27704. Green open access
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Vona, B; Schwartzbaum, DA; Rodriguez, AA; Lewis, SS; Toosi, MB; Radhakrishnan, P; Bozan, N; ... Douzgou, S; + view all (2022) Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. Journal of the European Academy of Dermatology and Venereology 10.1111/jdv.18207. (In press). Green open access
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Willis, Nicky J; Mahy, William; Sipthorp, James; Zhao, Yuguang; Woodward, Hannah L; Atkinson, Benjamin N; Bayle, Elliott D; ... Fish, Paul V; + view all (2022) Design of a Potent, Selective, and Brain-Penetrant Inhibitor of Wnt-Deactivating Enzyme Notum by Optimization of a Crystallographic Fragment Hit. Journal of Medicinal Chemistry 10.1021/acs.jmedchem.2c00162. Green open access
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Wong, Keit Men; Jepsen, Wayne M; Efthymiou, Stephanie; Salpietro, Vincenzo; Sanchez-Castillo, Meredith; Yip, Janice; Kriouile, Yamna; ... Huppke, Peter; + view all (2022) Mutations in TAF8 cause a neurodegenerative disorder. Brain , 145 (9) pp. 3022-3034. 10.1093/brain/awac154. Green open access
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Yeoh, S-A; Young, K; Putman, M; Sattui, S; Conway, R; Graef, E; Kilian, A; ... Global Rheumatology Alliance; + view all (2022) Rapid Adoption of Telemedicine in Rheumatology Care During the COVID-19 Pandemic Highlights Training and Supervision Concerns Among Rheumatology Trainees. ACR Open Rheumatology , 4 (2) pp. 128-133. 10.1002/acr2.11355. Green open access
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Yeoh, Su-Ann; Gianfrancesco, Milena; Lawson-Tovey, Saskia; Hyrich, Kimme L; Strangfeld, Anja; Gossec, Laure; Carmona, Loreto; ... COVID-19 Global Rheumatology Alliance, .; + view all (2022) Factors associated with severe COVID-19 in people with idiopathic inflammatory myopathy: results from the COVID-19 Global Rheumatology Alliance physician-reported registry. RMD Open , 8 (2) , Article e002508. 10.1136/rmdopen-2022-002508. Green open access
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Young, Kristen; Yeoh, Su-Ann; Putman, Michael; Sattui, Sebastian; Conway, Richard; Graef, Elizabeth; Kilian, Adam; ... Jayatilleke, Arundathi; + view all (2022) The impact of COVID-19 on rheumatology training—results from the COVID-19 Global Rheumatology Alliance trainee survey. Rheumatology Advances in Practice , 6 (1) , Article rkac001. 10.1093/rap/rkac001. Green open access
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Zago, E; Dal Molin, A; Dimitri, GM; Xumerle, L; Pirazzini, C; Bacalini, MG; Maturo, MG; ... Williams, D; + view all (2022) Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients. Scientific Reports , 12 , Article 1330. 10.1038/s41598-022-05227-6. Green open access
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Zanovello, M; Sorarù, G; Campi, C; Anglani, M; Spimpolo, A; Berti, S; Bussè, C; ... Cecchin, D; + view all (2022) Brain Stem Glucose Hypermetabolism in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia and Shortened Survival: An 18F-FDG PET/MRI Study. Journal of Nuclear Medicine , 63 (5) pp. 777-784. 10.2967/jnumed.121.262232. Green open access
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Zhao, Yuguang; Mahy, William; Willis, Nicky J; Woodward, Hannah L; Steadman, David; Bayle, Elliott D; Atkinson, Benjamin N; ... Jones, E Yvonne; + view all (2022) Structural Analysis and Development of Notum Fragment Screening Hits. ACS Chemical Neuroscience , 13 (13) pp. 2060-2077. 10.1021/acschemneuro.2c00325. Green open access
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Book

Sahoo, Pabitra; Willis, Dianna E; Sleigh, James N; (2022) Pathways and Processes Underpinning Axonal Biology and Pathobiology. [Book]. Frontiers in Molecular Neuroscience Green open access
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Working / discussion paper

Badenoch, James B; Conti, Isabella; Rengasamy, Emma R; Watson, Cameron J; Butler, Matt; Hussain, Zain; Rooney, Alasdair G; ... Rogers, Jonathan P; + view all (2022) Neurological and psychiatric presentations associated with human monkeypox virus infection: a systematic review and meta-analysis. Cold Spring Harbor Laboratory: Cold Spring Harbor (NY), USA. Green open access
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Failor, Samuel; Carandini, Matteo; Harris, Kenneth; (2022) Visuomotor association orthogonalizes visual cortical population codes. bioRxiv: Cold Spring Harbor, NY, USA. Green open access
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Thesis

Bull, Daniel Anthony; (2022) Investigating the effect that disease-linked PLCγ2 variants have on enzymatic activity and exploring PLCγ2’s role within microglia cell function. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Rhymes, Elena Ruth; (2022) Growth factor signalling axes impact retrograde axonal transport of signalling endosomes in healthy and diseased motor neurons. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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This list was generated on Mon Dec 2 02:07:32 2024 GMT.