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Number of items: 217.
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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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).
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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).
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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.
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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.
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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.
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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).
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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.
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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).
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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).
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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.
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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.
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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.
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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).
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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.
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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.
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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).
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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Forouhan, Mitra;
Lim, Wooi Fang;
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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Brain
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Stevanovski, Igor;
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Communications Biology
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Maroofian, Reza;
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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
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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
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(2022)
Astrocytes display cell autonomous and diverse early reactive states in familial amyotrophic lateral sclerosis.
Brain
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Rastqar, Ali;
Lemieux, Maxime;
Peng, Jimmy;
Ferent, Julien;
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(2022)
Heterozygous Dcc mutant mice have a subtle locomotor phenotype.
eNeuro
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Gautier, T;
Zaki, MS;
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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
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BDNF-dependent modulation of axonal transport is selectively impaired in ALS.
Acta Neuropathologica Communications
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Clarke, Ann Elaine;
Wise, Leanna;
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(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.
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van der Knoop, Marieke M;
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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
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Coupling axonal mRNA transport and local translation to organelle maintenance and function.
Current Opinion in Cell Biology
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(2022)
N6-methyladenosine (m6A) reader Pho92 is recruited co-transcriptionally and couples translation to mRNA decay to promote meiotic fitness in yeast.
eLife
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Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study.
Journal of Neurology
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Verzat, C;
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Image-based deep learning reveals the responses of human motor neurons to stress and VCP-related ALS.
Neuropathology and Applied Neurobiology
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Vichayanrat, Ekawat;
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Morris, Huw;
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Diagnosing Premotor Multiple System Atrophy: Natural History and Autonomic Testing in an Autopsy Confirmed Cohort.
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(2022)
Combining biomarkers for prognostic modelling of Parkinson's disease.
Journal of Neurology, Neurosurgery and Psychiatry (JNNP)
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Visser-Vandewalle, Veerle;
Andrade, Pablo;
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Deep brain stimulation for obsessive-compulsive disorder: a crisis of access.
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Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
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Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
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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
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Mutations in TAF8 cause a neurodegenerative disorder.
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Rapid Adoption of Telemedicine in Rheumatology Care During the COVID-19 Pandemic Highlights Training and Supervision Concerns Among Rheumatology Trainees.
ACR Open Rheumatology
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Factors associated with severe COVID-19 in people with idiopathic inflammatory myopathy: results from the COVID-19 Global Rheumatology Alliance physician-reported registry.
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Graef, Elizabeth;
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The impact of COVID-19 on rheumatology training—results from the COVID-19 Global Rheumatology Alliance trainee survey.
Rheumatology Advances in Practice
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Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients.
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Brain Stem Glucose Hypermetabolism in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia and Shortened Survival: An 18F-FDG PET/MRI Study.
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Structural Analysis and Development of Notum Fragment Screening Hits.
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Book
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Sahoo, Pabitra;
Willis, Dianna E;
Sleigh, James N;
(2022)
Pathways and Processes Underpinning Axonal Biology and Pathobiology.
[Book].
Frontiers in Molecular Neuroscience
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Working / discussion paper
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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.
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Failor, Samuel;
Carandini, Matteo;
Harris, Kenneth;
(2022)
Visuomotor association orthogonalizes visual cortical population codes.
bioRxiv: Cold Spring Harbor, NY, USA.
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Thesis
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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).
|
|
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).
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