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Article

Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; ... Maroofian, Reza; + view all (2023) Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. Genetics in Medicine , 25 (11) , Article 100938. 10.1016/j.gim.2023.100938. Green open access
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Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; ... Maroofian, Reza; + view all (2023) Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain Communications , 5 (5) , Article fcad222. 10.1093/braincomms/fcad222. Green open access
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Aghaizu, Nozie D; Jolly, Sarah; Samra, Satinder K; Kalmar, Bernadett; Craessaerts, Katleen; Greensmith, Linda; Salinas, Patricia C; ... Whiting, Paul J; + view all (2023) Microglial Expression of the Wnt Signaling Modulator DKK2 Differs between Human Alzheimer's Disease Brains and Mouse Neurodegeneration Models. eNeuro 10.1523/ENEURO.0306-22.2022. (In press). Green open access
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Ahmed, Mhoriam; Spicer, Charlotte; Harley, Jasmine; Taylor, J Paul; Hanna, Michael; Patani, Rickie; Greensmith, Linda; (2023) Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models. Molecular Neurobiology 10.1007/s12035-023-03509-2. (In press). Green open access
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AlAbdi, L; Maddirevula, S; Shamseldin, HE; Khouj, E; Helaby, R; Hamid, H; Almulhim, A; ... Alkuraya, FS; + view all (2023) Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families. Nature Communications , 14 (1) , Article 5269. 10.1038/s41467-023-40909-3. Green open access
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Alam, Aftab; Singh, Tanya; Kayhanian, Saeed; Tjerkaski, Jonathan; Garcia, Nuria Marco; Carpenter, Keri; Patani, Rickie; ... Helmy, Adel; + view all (2023) Modelling the inflammatory response of traumatic brain injury using human induced pluripotent stem cell derived microglia. Journal of Neurotrauma 10.1089/neu.2022.0508. (In press). Green open access
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Ali, Zeinab; Godoy-Corchuelo, Juan M; Martins-Bach, Aurea B; Garcia-Toledo, Irene; Fernández-Beltrán, Luis C; Nair, Remya R; Spring, Shoshana; ... Corrochano, Silvia; + view all (2023) Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations. Disease Models & Mechanisms , 16 (10) , Article dmm050200. 10.1242/dmm.050200. Green open access
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Almousa, Hashem; Lewis, Sara A; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; ... Kruer, Michael C; + view all (2023) TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain , Article awad301. 10.1093/brain/awad301. (In press).

Amore, Greta; Calì, Elisa; Spanò, Maria; Ceravolo, Giorgia; Mangano, Giuseppe Donato; Scorrano, Giovanna; Efthymiou, Stephanie; ... Di Rosa, Gabriella; + view all (2023) ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview. Brain & Development 10.1016/j.braindev.2023.07.004. (In press).

Ashton, Catherine; Indelicato, Elisabetta; Pellerin, David; Clément, Guillemette; Danzi, Matt C; Dicaire, Marie-Josée; Bonnet, Céline; ... Brais, Bernard; + view all (2023) Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain Communications , 5 (5) , Article fcad239. 10.1093/braincomms/fcad239. Green open access
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Atkinson, Benjamin N; Willis, Nicky J; Zhao, Yuguang; Patel, Chandni; Frew, Sarah; Costelloe, Kathryn; Magno, Lorenza; ... Fish, Paul V; + view all (2023) Designed switch from covalent to non-covalent inhibitors of carboxylesterase Notum activity. European Journal of Medicinal Chemistry , 251 , Article 115132. 10.1016/j.ejmech.2023.115132. Green open access
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Azman, Muhammad S; Alard, Emilie L; Dodel, Martin; Capraro, Federica; Faraway, Rupert; Dermit, Maria; Fan, Wanling; ... Mardakheh, Faraz K; + view all (2023) An ERK1/2-driven RNA-binding switch in nucleolin drives ribosome biogenesis and pancreatic tumorigenesis downstream of RAS oncogene. The EMBO Journal , 42 (11) , Article e110902. 10.15252/embj.2022110902. Green open access
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Balendra, Rubika; Ruiz de Los Mozos, Igor; Odeh, Hana M; Glaria, Idoia; Milioto, Carmelo; Wilson, Katherine M; Ule, Agnieszka M; ... Isaacs, Adrian M; + view all (2023) Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides. Life Science Alliance , 6 (9) , Article e202201824. 10.26508/lsa.202201824. Green open access
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Barreiro, RAS; Guardia, GDA; Meliso, FM; Lei, X; Li, WQ; Savio, A; Fellermeyer, M; ... Galante, PAF; + view all (2023) The paralogues MAGOH and MAGOHB are oncogenic factors in high-grade gliomas and safeguard the splicing of cell division and cell cycle genes. RNA Biology , 20 (1) pp. 311-322. 10.1080/15476286.2023.2221511. Green open access
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Beare, Ben; Brander, Fran; Farrell, Rachel; Lakra, Celine; Higgins, Rachel; Ward, Nick; (2023) Understanding frozen shoulder in the hemiparetic arm after stroke. Advances in Clinical Neuroscience and Rehabilitation , 22 (1) pp. 12-15. 10.47795/ivsc5970. Green open access
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Bimbard, Célian; Sit, Timothy PH; Lebedeva, Anna; Reddy, Charu B; Harris, Kenneth D; Carandini, Matteo; (2023) Behavioral origin of sound-evoked activity in mouse visual cortex. Nature Neuroscience 10.1038/s41593-022-01227-x. (In press). Green open access
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Bonnet, C; Pellerin, D; Roth, V; Clément, G; Wandzel, M; Lambert, L; Frismand, S; ... Renaud, M; + view all (2023) Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Scientific Reports , 13 (1) , Article 9737. 10.1038/s41598-023-36654-8. (In press). Green open access
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Bosch, E; Popp, B; Güse, E; Skinner, C; van der Sluijs, PJ; Maystadt, I; Pinto, AM; ... Vasileiou, G; + view all (2023) Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine , 25 (11) , Article 100950. 10.1016/j.gim.2023.100950. (In press). Green open access
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Bowles, H; Kabiljo, R; Al Khleifat, A; Jones, A; Quinn, JP; Dobson, RJB; Swanson, CM; ... Iacoangeli, A; + view all (2023) An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data. Frontiers in Bioinformatics , 2 , Article 1062328. 10.3389/fbinf.2022.1062328. Green open access
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Brooks, J; Montgomery, A; Dalbeth, N; Sapsford, M; Ngan Kee, R; Cooper, A; Quincey, V; ... Grainger, R; + view all (2023) Omicron variant infection in inflammatory rheumatological conditions – outcomes from a COVID-19 naive population in Aotearoa New Zealand. The Lancet Regional Health - Western Pacific , 38 , Article 100843. 10.1016/j.lanwpc.2023.100843. Green open access
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Brown, Anna-Leigh; (2023) Solving A Decade-Long Mystery: Neurons Hold The Key To Rare Neurological Diseases. TheScienceBreaker , 9 (1) 10.25250/thescbr.brk673. Green open access
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Businaro, P; Currò, R; Vegezzi, E; Diamanti, L; Bini, P; Cosentino, G; Alfonsi, E; ... Marchioni, E; + view all (2023) Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification. Multiple Sclerosis and Related Disorders , 76 , Article 104781. 10.1016/j.msard.2023.104781.

Caswell, Deborah R; Gui, Philippe; Mayekar, Manasi K; Law, Emily K; Pich, Oriol; Bailey, Chris; Boumelha, Jesse; ... Swanton, Charles; + view all (2023) The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance. Nature Genetics 10.1038/s41588-023-01592-8. (In press). Green open access
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Cavaletti, Guido; Pizzamiglio, Chiara; Man, Albert; Engber, Thomas M; Comi, Cristoforo; Wilbraham, Darren; (2023) Studies to Assess the Utility of Serum Neurofilament Light Chain as a Biomarker in Chemotherapy-Induced Peripheral Neuropathy. Cancers , 15 (17) , Article 4216. 10.3390/cancers15174216. Green open access
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Ceravolo, G; Zhelcheska, K; Squadrito, V; Pellerin, D; Gitto, E; Hartley, L; Houlden, H; (2023) Update on leukodystrophies and developing trials. Journal of Neurology 10.1007/s00415-023-11996-5. (In press). Green open access
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Chakrabarti, Anob M; Capitanchik, Charlotte; Ule, Jernej; Luscombe, Nicholas M; (2023) clipplotr - a comparative visualisation and analysis tool for CLIP data. RNA 10.1261/rna.079326.122. (In press). Green open access
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Chakrabarti, Anob M; Iosub, Ira A; Lee, Flora CY; Ule, Jernej; Luscombe, Nicholas M; (2023) A computationally-enhanced hiCLIP atlas reveals Staufen1-RNA binding features and links 3′ UTR structure to RNA metabolism. Nucleic Acids Research , Article gkad221. 10.1093/nar/gkad221. Green open access
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Chari, Aswin; Adler, Sophie; Wagstyl, Konrad; Seunarine, Kiran; Tahir, M Zubair; Moeller, Friederike; Thornton, Rachel; ... Tisdall, Martin M; + view all (2023) Lesion detection in epilepsy surgery: Lessons from a prospective evaluation of a machine learning algorithm. Developmental Medicine & Child Neurology 10.1111/dmcn.15727. (In press). Green open access
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Cheema, Sanjay; Anderson, Jane; Angus-Leppan, Heather; Armstrong, Paul; Butteriss, David; Carlton Jones, Lalani; Choi, David; ... Matharu, Manjit Singh; + view all (2023) Multidisciplinary consensus guideline for the diagnosis and management of spontaneous intracranial hypotension. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2023-331166. (In press). Green open access
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Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K; Ibañez, Kristina; Reynolds, Regina H; Zhang, David; ... Ryten, Mina; + view all (2023) Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain , 146 , Article awad009. 10.1093/brain/awad009. Green open access
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Ciocca, Matteo; Pizzamiglio, Chiara; (2023) Clinical Benefits of Therapeutic Interventions Targeting Mitochondria in Parkinson’s Disease Patients. CNS & Neurological Disorders - Drug Targets 10.2174/1871527322666230330122444. (In press). Green open access
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Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; ... Reilly, Mary M; + view all (2023) Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts. European Journal of Neurology 10.1111/ene.16063. (In press). Green open access
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CRANIAL Consortium; (2023) Machine learning driven prediction of cerebrospinal fluid rhinorrhoea following endonasal skull base surgery: A multicentre prospective observational study. Frontiers in Oncology , 13 , Article 1046519. 10.3389/fonc.2023.1046519. Green open access
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Crombie, Elisa M; Kim, Seonyoung; Adamson, Stuart; Dong, Han; Lu, Tzu‐Chiao; Wu, Yiju; Wu, Yajun; ... Tsai, Shih‐Yin; + view all (2023) Activation of eIF4E-binding-protein-1 rescues mTORC1-induced sarcopenia by expanding lysosomal degradation capacity. Journal of Cachexia, Sarcopenia and Muscle , 14 (1) pp. 198-213. 10.1002/jcsm.13121. Green open access
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D'Antona, Linda; Craven, Claudia Louise; Haq, Huzaifah; Thorne, Lewis; Matharu, Manjit Singh; Toma, Ahmed Kassem; Watkins, Laurence Dale; (2023) A case of recurrent flight-induced cerebrospinal fluid shunt overdrainage. British Journal of Neurosurgery , 37 (1) pp. 112-115. 10.1080/02688697.2022.2066629. Green open access
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D’Onofrio, G; Accogli, A; Severino, M; Caliskan, H; Kokotović, T; Blazekovic, A; Jercic, KG; ... Nagy, V; + view all (2023) Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Human Genetics 10.1007/s00439-023-02552-2. (In press). Green open access
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Das, A; Khan, DZ; Hanrahan, JG; Marcus, HJ; Stoyanov, D; (2023) Automatic generation of operation notes in endoscopic pituitary surgery videos using workflow recognition. Intelligence-Based Medicine , 8 , Article 100107. 10.1016/j.ibmed.2023.100107. Green open access
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De Ceglia, R; Ledonne, A; Litvin, DG; Lind, BL; Carriero, G; Latagliata, EC; Bindocci, E; ... Volterra, A; + view all (2023) Specialized astrocytes mediate glutamatergic gliotransmission in the CNS. Nature 10.1038/s41586-023-06502-w. (In press). Green open access
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De Pace, Raffaella; Maroofian, Reza; Paimboeuf, Adeline; Zamani, Mina; Zaki, Maha S; Sadeghian, Saeid; Azizimalamiri, Reza; ... Bonifacino, Juan S; + view all (2023) Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain awad427. 10.1093/brain/awad427. (In press).

Del Puerto, Ana; Lopez-Fonseca, Coral; Simón-García, Ana; Martí-Prado, Beatriz; Barrios-Muñoz, Ana L; Pose-Utrilla, Julia; López-Menéndez, Celia; ... Porlan, Eva; + view all (2023) Kidins220 sets the threshold for survival of neural stem cells and progenitors to sustain adult neurogenesis. Cell Death and Disease , 14 , Article 500. 10.1038/s41419-023-05995-7. Green open access
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Deng, R; Medico-Salsench, E; Nikoncuk, A; Ramakrishnan, R; Lanko, K; Kühn, NA; van der Linde, HC; ... Barakat, TS; + view all (2023) AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathologica 10.1007/s00401-023-02579-9. (In press). Green open access
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Deodhar, Atul; Machado, Pedro M; Mørup, Michael; Taieb, Vanessa; Willems, Damon; Orme, Michelle; Pritchett, David; (2023) Comparative efficacy and safety of bimekizumab in axial spondyloarthritis: a systematic literature review and network meta-analysis. Rheumatology , Article kead598. 10.1093/rheumatology/kead598. (In press). Green open access
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Dominik, Natalia; Magri, Stefania; Currò, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; MacPherson, Hannah; ... Cortese, Andrea; + view all (2023) Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. Brain , Article awad240. 10.1093/brain/awad240. (In press). Green open access
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Duan, R; Marafi, D; Xia, ZJ; Ng, BG; Maroofian, R; Sumya, FT; Saad, AK; ... Lupski, JR; + view all (2023) Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. Journal of Inherited Metabolic Disease 10.1002/jimd.12679. (In press).

Dures, Emma; Farisoğulları, Bayram; Santos, Eduardo José Ferreira; Molto, Anna; Feldthusen, Caroline; Harris, Claire; Elling-Audersch, Corinna; ... Machado, Pedro M; + view all (2023) 2023 EULAR recommendations for the management of fatigue in people with inflammatory rheumatic and musculoskeletal diseases. Annals of the Rheumatic Diseases 10.1136/ard-2023-224514. (In press). Green open access
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Efthymiou, Stephanie; Lemmers, Richard JLF; Vishnu, Venugopalan Y; Dominik, Natalia; Perrone, Benedetta; Facchini, Stefano; Vegezzi, Elisa; ... Bugiardini, Enrico; + view all (2023) Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges. Biomolecules , 13 (11) , Article 1567. 10.3390/biom13111567. Green open access
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Efthymiou, Stephanie; Novis, Luiz E; Koutsis, Georgios; Koniari, Chrysoula; Maroofian, Reza; Turchetti, Valentina; Velonakis, Georgios; ... Houlden, Henry; + view all (2023) Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. Annals of Clinical and Translational Neurology 10.1002/acn3.51874. (In press). Green open access
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Engal, E; Oja, KT; Maroofian, R; Geminder, O; Le, TL; Marzin, P; Guimier, A; ... Mor-Shaked, H; + view all (2023) Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. American Journal of Human Genetics , 110 (12) pp. 2112-2119. 10.1016/j.ajhg.2023.10.013.

Enriquez-Gasca, Rocio; Gould, Poppy A; Tunbak, Hale; Conde, Lucia; Herrero, Javier; Chittka, Alexandra; Beck, Christine R; ... Rowe, Helen M; + view all (2023) Co-option of endogenous retroviruses through genetic escape from TRIM28 repression. Cell Reports , 42 (6) , Article 112625. 10.1016/j.celrep.2023.112625. Green open access
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Facchini, Stefano; Dominik, Natalia; Manini, Arianna; Efthymiou, Stephanie; Currò, Riccardo; Rugginini, Bianca; Vegezzi, Elisa; ... Cortese, Andrea; + view all (2023) Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions. Biomolecules , 13 (10) , Article 1546. 10.3390/biom13101546. Green open access
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Farisogullari, Bayram; Santos, Eduardo José Ferreira; Dures, Emma; Geenen, Rinie; Machado, Pedro M; EULAR taskforce on recommendations for the management of fatigue; EULAR taskforce on Recommendations for the management of fatigue; (2023) Efficacy of pharmacological interventions: a systematic review informing the 2023 EULAR recommendations for the management of fatigue in people with inflammatory rheumatic and musculoskeletal diseases. RMD Open , 9 (4) , Article e003349. 10.1136/rmdopen-2023-003349. Green open access
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Fasham, James; Huebner, Antje K; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B; ... Hübner, Christian A; + view all (2023) SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain , Article awad235. 10.1093/brain/awad235. (In press). Green open access
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Fehmi, J; Davies, AJ; Antonelou, M; Keddie, S; Pikkupeura, S; Querol, L; Delmont, E; ... Rinaldi, S; + view all (2023) Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis. PLOS ONE , 18 , Article e0281156. 10.1371/journal.pone.0281156. Green open access
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Feinstein, Anthony; Amato, Maria Pia; Brichetto, Giampaolo; Chataway, Jeremy; Chiaravalloti, Nancy D; Cutter, Gary; Dalgas, Ulrik; ... CogEx Research Team; + view all (2023) Cognitive rehabilitation and aerobic exercise for cognitive impairment in people with progressive multiple sclerosis (CogEx): a randomised, blinded, sham-controlled trial. The Lancet Neurology , 22 (10) pp. 912-924. 10.1016/S1474-4422(23)00280-6. Green open access
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Fernández-Eulate, Gorka; Theuriet, Julian; Record, Christopher J; Querin, Giorgia; Masingue, Marion; Leonard-Louis, Sarah; Behin, Anthony; ... Stojkovic, Tanya; + view all (2023) Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy. Neurology Genetics , 9 (4) , Article e200087. 10.1212/NXG.0000000000200087. Green open access
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Fisher, Elizabeth MC; Greensmith, Linda; Malaspina, Andrea; Fratta, Pietro; Hanna, Michael G; Schiavo, Giampietro; Isaacs, Adrian M; ... Arozena, Abraham Acevedo; + view all (2023) Opinion: more mouse models and more translation needed for ALS. Molecular Neurodegeneration , 18 (1) , Article 30. 10.1186/s13024-023-00619-2. Green open access
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Gambadauro, Antonella; Mangano, Giuseppe Donato; Galletta, Karol; Granata, Francesca; Riva, Antonella; Massella, Laura; Guzzo, Isabella; ... Chimenz, Roberto; + view all (2023) NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron. Genes , 14 (12) , Article 2143. 10.3390/genes14122143. Green open access
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Goh, Yee Yen; Saunders, Emma; Pavey, Samantha; Rushton, Emma; Quinn, Niall; Houlden, Henry; Chelban, Viorica; (2023) Multiple system atrophy. Practical Neurology , 23 (3) pp. 208-221. 10.1136/practneurol-2020-002797. Green open access
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Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; ... Akizu, Naiara; + view all (2023) Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nat Commun , 14 , Article 4109. 10.1038/s41467-023-39645-5. Green open access
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Greensmith, Linda; Bryson, J Barney; (2023) The cholesterol depleting agent, (2-Hydroxypropyl)-ß-cyclodextrin, does not affect disease progression in SOD1G93A mice. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 10.1080/21678421.2023.2239867. (In press). Green open access
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Hadjivassiliou, Marios; Currò, Riccardo; Beauchamp, Nick; Dominik, Natalia; Grunewald, Richard A; Shanmugarajah, Priya; Zis, Panayiotis; ... Cortese, Andrea; + view all (2023) Can CANVAS due to RFC1 biallelic expansions present with pure ataxia? ournal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2023-331381. (In press). Green open access
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Harley, Peter; Kerins, Caoimhe; Gatt, Ariana; Neves, Guilherme; Riccio, Federica; Machado, Carolina Barcellos; Cheesbrough, Aimee; ... Lieberam, Ivo; + view all (2023) Aberrant axon initial segment plasticity and intrinsic excitability of ALS hiPSC motor neurons. Cell Reports , 42 (12) , Article 113509. 10.1016/j.celrep.2023.113509. Green open access
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Hirsch, Yoel; Chung, Wendy K; Novoselov, Sergey; Weimer, Louis H; Rossor, Alexander; LeDuc, Charles A; McPartland, Amanda J; ... Booth, Kevin TA; + view all (2023) Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. International Journal of Molecular Sciences , 24 (10) , Article 8897. 10.3390/ijms24108897. Green open access
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Horton, Rachel H; Macken, William L; Pitceathly, Robert DS; Lucassen, Anneke M; (2023) Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance. Journal of Medical Ethics 10.1136/jme-2023-109108. (In press). Green open access
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Hsieh, Evelyn; Dey, Dzifa; Grainger, Rebecca; Li, Mengtao; Machado, Pedro M; Ugarte-Gil, Manuel F; Yazdany, Jinoos; (2023) Global Perspective on the Impact of the COVID-19 Pandemic on Rheumatology and Health Equity. Arthritis Care & Research 10.1002/acr.25169. (In press).

Hung, Christy; Patani, Rickie; (2023) Elevated 4R tau contributes to endolysosomal dysfunction and neurodegeneration in VCP-related frontotemporal dementia. Brain , Article awad370. 10.1093/brain/awad370. (In press). Green open access
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Husain, Ralf A; Jiao, Xinfu; Hennings, J Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Wödl, Stefanie; Osmanović, Dina; ... Rubio, Ignacio; + view all (2023) Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain 10.1093/brain/awad434. (In press).

International Brain Laboratory; Bonacchi, Niccolò; Chapuis, Gaelle A; Churchland, Anne K; DeWitt, Eric EJ; Faulkner, Mayo; Harris, Kenneth D; ... Wells, Miles J; + view all (2023) A modular architecture for organizing, processing and sharing neurophysiology data. Nature Methods , 20 pp. 403-407. 10.1038/s41592-022-01742-6. Green open access
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Iruzubieta, P; Pellerin, D; Bergareche, A; Albajar, I; Mondragón, E; Vinagre, A; Fernández-Torrón, R; ... Ruiz-Martínez, J; + view all (2023) Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European Journal of Neurology 10.1111/ene.16039. (In press).

Jackson, A; Lin, SJ; Jones, EA; Chandler, KE; Orr, D; Moss, C; Haider, Z; ... Hoogerbrugge, N; + view all (2023) Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. Human Genetics and Genomics Advances , 4 (2) , Article 100186. 10.1016/j.xhgg.2023.100186. Green open access
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Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; ... Maroofian, Reza; + view all (2023) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain 10.1093/brain/awad380. (In press). Green open access
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Kalia, M; Miotto, M; Ness, D; Opie-Martin, S; Spargo, TP; Di Rienzo, L; Biagini, T; ... Iacoangeli, A; + view all (2023) Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression. Computational and Structural Biotechnology Journal , 21 pp. 5296-5308. 10.1016/j.csbj.2023.09.016. Green open access
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Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H; Enns, Gregory M; Falk, Marni J; Goldstein, Amy; ... MMPOWER-3 Trial Investigators; + view all (2023) Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology , 101 (3) e238-e252. 10.1212/WNL.0000000000207402. Green open access
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Keh, Ryan YS; Scanlon, Sophie; Datta-Nemdharry, Preeti; Donegan, Katherine; Cavanagh, Sally; Foster, Mark; Skelland, David; ... BPNS/ABN COVID-19 Vaccine GBS Study Group, .; + view all (2023) COVID-19 vaccination and Guillain-Barré syndrome: analyses using the National Immunoglobulin Database. Brain , 146 (2) 10.1093/brain/awac067. Green open access
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Saffari, Afshin; Kellner, Melanie; Jordan, Catherine; Rosengarten, Helena; Mo, Alisa; Zhang, Bo; Strelko, Oleksandr; ... Ebrahimi-Fakhari, Darius; + view all (2023) The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain , 146 (5) pp. 2003-2015. 10.1093/brain/awac391. Green open access
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Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; ... Maroofian, Reza; + view all (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain , 146 , Article awad039. 10.1093/brain/awad039. Green open access
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Sahi, Nitin; Haider, Lukas; Chung, Karen; Prados Carrasco, Ferran; Kanber, Baris; Samson, Rebecca; Thompson, Alan J; ... Chard, Declan; + view all (2023) Genetic influences on disease course and severity, 30 years after a clinically isolated syndrome. Brain Communications , 5 (5) , Article fcad255. 10.1093/braincomms/fcad255. Green open access
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Saida, K; Maroofian, R; Sengoku, T; Mitani, T; Pagnamenta, AT; Marafi, D; Zaki, MS; ... Matsumoto, N; + view all (2023) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine , 25 (1) pp. 90-102. 10.1016/j.gim.2022.09.010. Green open access
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Saketkoo, Lesley Ann; Valenzuela, Antonia; Kim, Susan; McCann, Liza J; Lood, Christian; Wahezi, Dawn M; Werth, Victoria P; ... International Myositis Assessment and Clinical Studies Group; + view all (2023) Moving forward together: collaborative landscapes of research in idiopathic inflammatory myopathies and calcinosis. Rheumatology , Article kead331. 10.1093/rheumatology/kead331. (In press). Green open access
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Salam, Sharfaraz; Morrow, Jasper M; Howard, Robin; Miller, James AL; Quinlivan, Ros M; Machado, Pedro M; (2023) Two emerging phenotypes of atypical inclusion body myositis: illustrative cases. Clinical and Experimental Rheumatology , 41 (2) pp. 340-347. 10.55563/clinexprheumatol/jq7zxd. Green open access
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Salim, Omar; Chari, Aswin; Zvi, Ido Ben; Batchelor, Rachel; Baldeweg, Torsten; Helen Cross, J; Tisdall, Martin; (2023) Clinician views regarding early surgery for paediatric epilepsy. Seizure: European Journal of Epilepsy , 113 pp. 80-85. 10.1016/j.seizure.2023.11.011. Green open access
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Salpietro, V; Maroofian, R; Zaki, MS; Wangen, J; Ciolfi, A; Barresi, S; Efthymiou, S; ... Scorrano, G; + view all (2023) Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. American Journal of Human Genetics 10.1016/j.ajhg.2023.11.012. (In press). Green open access
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Santos, EJF; Farisogullari, B; Dures, E; Geenen, R; Machado, PM; (2023) Efficacy of non-pharmacological interventions: a systematic review informing the 2023 EULAR recommendations for the management of fatigue in people with inflammatory rheumatic and musculoskeletal diseases. RMD open , 9 (3) , Article e003350. 10.1136/rmdopen-2023-003350. Green open access
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Santos, Helena; Henriques, Ana R; Machado, Pedro M; Lopez-Medina, Clementina; Dougados, Maxime; Canhão, Helena; Rodrigues, Ana M; (2023) Determinants of health-related quality of life and global functioning and health in axSpA, pSpA, and PsA: results from the ASAS-PerSpA study. Rheumatology , Article kead503. 10.1093/rheumatology/kead503. (In press).

Santos, Helena; Henriques, Ana Rita; Branco, Jaime; Machado, Pedro M; Canhão, Helena; Pimentel-Santos, Fernando M; Rodrigues, Ana Maria; (2023) Health-related quality of life among spondyloarthritis and chronic low back pain patients: results from a nationwide population-based survey. Quality of Life Research , 32 pp. 383-399. 10.1007/s11136-022-03274-0. Green open access
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Santos, Helena Cristina; Henriques, Ana Rita; Branco, Jaime Cunha; Machado, Pedro; Canhão, Helena; Pimentel-Santos, Fernando; Rodrigues, Ana Maria; (2023) In a community-based setting spondyloarthritis patients report higher levels of physical disability than chronic low back pain patients - results from EpiReuma.pt. ARP Rheumatology pp. 97-110. Green open access
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Sarkozy, Anna; Quinlivan, Rosaline; Bourke, John P; Ferlini, Alessandra; ENMC 263rd Workshop Study Group; (2023) 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. Neuromuscular Disorders , 33 (3) pp. 274-284. 10.1016/j.nmd.2023.01.003. Green open access
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Sczakiel, Henrike L; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; ... Boschann, Felix; + view all (2023) Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. European Journal of Human Genetics 10.1038/s41431-023-01382-0. (In press). Green open access
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Serrano, ME; Kim, E; Siow, B; Ma, D; Rojo, L; Simmons, C; Hayward, D; ... Cash, D; + view all (2023) Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome. Neurobiology of Disease , 188 , Article 106336. 10.1016/j.nbd.2023.106336. Green open access
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Sethukumar, Priya; Mandavia, Rishi; Yildirim, Omursen; Hazell, Georgina; Devakumar, Haran; Ahmed, Muhammad; Stragier, Emilien; ... Mehta, Nishchay; + view all (2023) Cataloging Existing Hearing Loss Cohort Data to Guide the Development of Precision Medicine for Sensorineural Hearing Loss: A Systematic Review of Hearing Repositories. The Journal of International Advanced Otology , 19 (5) pp. 420-425. 10.5152/iao.2023.22690. Green open access
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Shinn, M; (2023) Phantom oscillations in principal component analysis. Proceedings of the National Academy of Sciences of the United States of America , 120 (48) , Article e2311420120. 10.1073/pnas.2311420120. Green open access
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Shinn, Maxwell; Hu, Amber; Turner, Laurel; Noble, Stephanie; Preller, Katrin H; Ji, Jie Lisa; Moujaes, Flora; ... Murray, John D; + view all (2023) Functional brain networks reflect spatial and temporal autocorrelation. Nature Neuroscience , 26 (5) pp. 867-878. 10.1038/s41593-023-01299-3. Green open access
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Sleigh, James; Villarroel Campos, David; Surana, Sunaina; Wickenden, Tahmina; Tong, Yao; Simkin, Rebecca; Vargas, Jose; ... Schiavo, Giampietro; + view all (2023) Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice. JCI Insight 10.1172/jci.insight.157191. (In press). Green open access
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Sleigh, James N; Christie-Brown, Vanessa; Ryburn, Liz; Yáñez-Muñoz, Rafael J; (2023) Spinal Muscular Atrophy: A Rare but Treatable Disease of the Nervous System. Frontiers for Young Minds , 11 , Article 1023423. 10.3389/frym.2023.1023423. Green open access
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Sleigh, James N; Schiavo, Giampietro; (2023) Neuroscience highlights in 2022: cytoskeletal transport. The Lancet Neurology , 22 (1) pp. 25-27. 10.1016/s1474-4422(22)00482-3. Green open access
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Sloan, Kourtney; Thomas, Jared; Blackwell, Matthew; Voisard, Deanna; Lana-Elola, Eva; Watson-Scales, Sheona; Roper, Daniel L; ... Roper, Randall J; + view all (2023) Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice. Disease Models & Mechanisms , 16 (4) , Article dmm049927. 10.1242/dmm.049927. Green open access
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Smith, Thomas B; Rea, Alessandro; Thomas, Huw B; Thompson, Kyle; Oláhová, Monika; Maroofian, Reza; Zamani, Mina; ... O'Keefe, Raymond T; + view all (2023) Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54. European Journal of Human Genetics 10.1038/s41431-023-01437-2. (In press). Green open access
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Stal, Rosalinde; Ramiro, Sofia; van der Heijde, Desirée; van Gaalen, Floris A; Baraliakos, Xenofon; Machado, Pedro M; de Hooge, Manouk; ... Sepriano, Alexandre; + view all (2023) Do fatty lesions explain the effect of inflammation on new syndesmophytes in patients with radiographic axial spondyloarthritis? Results from the SIAS cohort and ASSERT trial. RMD Open , 9 (3) , Article e003118. 10.1136/rmdopen-2023-003118. Green open access
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Street, Duncan; Jabbari, Edwin; Costantini, Alyssa; Jones, P Simon; Holland, Negin; Rittman, Timothy; Jensen, Marte T; ... Rowe, James B; + view all (2023) Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials. Brain , Article awad105. 10.1093/brain/awad105. (In press). Green open access
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Symonds, Tara; Randall, Jason; Lloyd-Price, Lucy; Hudgens, Stacie; Dimachkie, Mazen M; Guldberg, Christina; Machado, Pedro M; (2023) Study to Assess Content Validity and Interrater and Intrarater Reliability of the Inclusion Body Myositis Functional Rating Scale. Neurology: Clinical Practice , 13 (4) , Article e200168. 10.1212/CPJ.0000000000200168.

Themistocleous, Andreas C; Baskozos, Georgios; Blesneac, Iulia; Comini, Maddalena; Megy, Karyn; Chong, Sam; Deevi, Sri VV; ... Bennett, David LH; + view all (2023) Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain Commun , 5 (2) , Article fcad037. 10.1093/braincomms/fcad037. Green open access
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Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; ... Németh, Andrea H; + view all (2023) Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. Movement Disorders 10.1002/mds.29651. (In press). Green open access
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Tozza, Stefano; Curro, Riccardo; Severi, Daniele; Marcelli, Vincenzo; Cavaliere, Carlo; Esposito, Gabriella; Iodice, Rosa; ... Manganelli, Fiore; + view all (2023) The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene. Acta Neurologica Belgica , 123 pp. 1601-1604. 10.1007/s13760-022-02116-7. Green open access
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Turner, RD; Hirons, B; Cortese, A; Birring, SS; (2023) Chronic Cough as a Genetic Neurological Disorder? Insights from Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS). Lung , 201 (6) pp. 511-519. 10.1007/s00408-023-00660-4. Green open access
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Uctepe, Eyyup; Vona, Barbara; Esen, Fatma Nisa; Sonmez, F Mujgan; Smol, Thomas; Tümer, Sait; Mancılar, Hanifenur; ... Yesilyurt, Ahmet; + view all (2023) Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly. European Journal of Human Genetics 10.1038/s41431-023-01461-2. (In press). Green open access
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Ugarte-Gil, Manuel F; Alarcon, Graciela S; Seet, Andrea M; Izadi, Zara; Montgomery, Anna D; Duarte-Garcia, Ali; Gilbert, Emily L; ... Yazdany, Jinoos; + view all (2023) Association Between Race/Ethnicity and COVID-19 Outcomes in Systemic Lupus Erythematosus Patients From the United States: Data From the COVID-19 Global Rheumatology Alliance. Arthritis Care & Research , 75 (1) pp. 53-60. 10.1002/acr.25039. Green open access
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Ullah, I; Waqas, M; Ilyas, M; Halim, SA; Ahmad, A; Dominik, N; Ullah, W; ... Al-Harrasi, A; + view all (2023) A novel variant of GALC in a familial case of krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation. Genes and Diseases 10.1016/j.gendis.2023.01.018. (In press). Green open access
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Ullah, Wahid; Ilyas, Muhammad; Tariq, Muhammad; Imdad, Maria; Ullah, Ikram; Efthymiou, Stephanie; Faheem, Muhammad; ... SYNAPS Study Group; + view all (2023) Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family. International Journal of Developmental Neuroscience , 83 (4) pp. 368-373. 10.1002/jdn.10264. Green open access
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van der Heijde, Désirée; Molto, Anna; Ramiro, Sofia; Braun, Jürgen; Dougados, Maxime; van Gaalen, Floris A; Gensler, Lianne S; ... Baraliakos, Xenofon; + view all (2023) Goodbye to the term 'ankylosing spondylitis', hello 'axial spondyloarthritis': time to embrace the ASAS-defined nomenclature. Annals of the Rheumatic Diseases 10.1136/ard-2023-225185. (In press). Green open access
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Van Haute, Lindsey; O'Connor, Emily; Díaz-Maldonado, Héctor; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H; Arunachal, Gautham; ... Horvath, Rita; + view all (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications , 14 (1) , Article 1009. 10.1038/s41467-023-36277-7. Green open access
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Vandersteen, Anthony M; Weerakkody, Ruwan A; Parry, David A; Kanonidou, Christina; Toddie-Moore, Daniel J; Vandrovcova, Jana; Darlay, Rebecca; ... Aitman, Timothy J; + view all (2023) Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome. Journal of Medical Genetics , 61 (3) pp. 232-238. 10.1136/jmg-2023-109329. Green open access
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Vargas, JNS; Hamasaki, M; Kawabata, T; Youle, RJ; Yoshimori, T; (2023) The mechanisms and roles of selective autophagy in mammals. Nature Reviews Molecular Cell Biology , 24 pp. 167-185. 10.1038/s41580-022-00542-2. Green open access
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Veldkamp, R; D'hooge, M; Sandroff, BM; DeLuca, J; Kos, D; Salter, A; Feinstein, A; ... CogEx, Res Team; + view all (2023) Profiling cognitive–motor interference in a large sample of persons with progressive multiple sclerosis and impaired processing speed: results from the CogEx study. Journal of Neurology , 270 pp. 3120-3128. 10.1007/s00415-023-11636-y. Green open access
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Vivekanandam, Vinojini; Jaibaji, Rawan; Sud, Richa; Ellmers, Rebecca; Skorupinska, Iwona; Germaine, Louise; James, Natalie; ... Hanna, Michael G; + view all (2023) Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing. Neuromuscular Disorders , 33 (3) pp. 270-273. 10.1016/j.nmd.2023.01.007. Green open access
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Vivekanandam, Vinojini; Seutterlin, Karen; Matthews, Emma; Thornton, John; Jayaseelan, Dipa; Shah, Sachit; Morrow, Jasper M; ... Hanna, Michael G; + view all (2023) Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation. Muscle & Nerve 10.1002/mus.27947. (In press). Green open access
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Wade, Charles; Williams, Thomas; Labrum, Robyn; Patel, Yogen; Cali, Elisa; Davagnanam, Indran; Adams, Matthew E; ... Lynch, David S; + view all (2023) Leukoencephalopathy caused by a 17p13.3 microdeletion. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2023-331986. (In press). Green open access
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Wijngaard, R; Demidov, G; O’Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; ... Gilissen, C; + view all (2023) Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (European Journal of Human Genetics, (2023), 10.1038/s41431-023-01478-7). European Journal of Human Genetics 10.1038/s41431-023-01492-9. Green open access
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Wilke, Carlo; Pellerin, David; Mengel, David; Traschütz, Andreas; Danzi, Matt C; Dicaire, Marie-Josée; Neumann, Manuela; ... Synofzik, Matthis; + view all (2023) GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain 10.1093/brain/awad157. (In press).

Willemse, Sean W; Harley, Peter; van Eijk, Ruben PA; Demaegd, Koen C; Zelina, Pavol; Pasterkamp, R Jeroen; van Damme, Philip; ... van Es, Michael A; + view all (2023) UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2022-330504. (In press). Green open access
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Williams, James; Hurling, Chloe; Munir, Sabrina; Harley, Peter; Machado, Carolina Barcellos; Cujba, Ana-Maria; Alvarez-Fallas, Mario; ... Watt, Fiona M; + view all (2023) Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells. Frontiers in Cell and Developmental Biology , 11 , Article 1163825. 10.3389/fcell.2023.1163825. Green open access
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Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; ... Hanna, Michael G; + view all (2023) Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain , Article awad254. 10.1093/brain/awad254. (In press). Green open access
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Wirth, Thomas; Ferreira, Francisca; Vijiaratnam, Nirosen; Girges, Christine; Pakzad, Ashkan; de Roquemaurel, Alexis; Sinani, Olga; ... Foltynie, Thomas; + view all (2023) Parkinson's disease tremor differentially responds to levodopa and subthalamic stimulation. Movement Disorders Clinical Practice , 10 (11) pp. 1639-1649. 10.1002/mdc3.13876.

Wirth, Thomas; Goedemans, Taco; Rajabian, Ali; Dayal, Viswas; Abuhusain, Hazem; Vijiaratnam, Nirosen; Athauda, Dilan; ... Zrinzo, Ludvic; + view all (2023) Clinical outcomes after MRI connectivity-guided radiofrequency thalamotomy for tremor. Journal of Neurosurgery 10.3171/2023.7.JNS222744. (In press). Green open access
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Yazdany, Jinoos; Ware, Anna; Wallace, Zachary S; Bhana, Suleman; Grainger, Rebecca; Hachulla, Eric; Richez, Christophe; ... Machado, Pedro M; + view all (2023) Impact of Risk Factors on COVID-19 Outcomes in Unvaccinated People with Rheumatic Diseases. Arthritis Care & Research , 76 (2) pp. 274-287. 10.1002/acr.25220.

Zanovello, Matteo; Ibáñez, Kristina; Brown, Anna-Leigh; Sivakumar, Prasanth; Bombaci, Alessandro; Santos, Liana; van Vugt, Joke JFA; ... Tucci, Arianna; + view all (2023) Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Brain , 146 (7) pp. 2723-2729. 10.1093/brain/awad050. Green open access
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Ziff, Oliver J; Harley, Jasmine; Wang, Yiran; Neeves, Jacob; Tyzack, Giulia; Ibrahim, Fairouz; Skehel, Mark; ... Patani, Rickie; + view all (2023) Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition. Neuron , 111 pp. 1-17. 10.1016/j.neuron.2023.06.019. Green open access
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Ziff, Oliver J; Neeves, Jacob; Mitchell, Jamie; Tyzack, Giulia; Martinez-Ruiz, Carlos; Luisier, Raphaelle; Chakrabarti, Anob M; ... Patani, Rickie; + view all (2023) Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology. Nature Communications , 14 , Article 2176. 10.1038/s41467-023-37630-6. Green open access
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Zubair, Adeel S; Salam, Sharfaraz; Dimachkie, Mazen M; Machado, Pedro M; Roy, Bhaskar; (2023) Imaging biomarkers in the idiopathic inflammatory myopathies. Frontiers in Neurology , 14 , Article 1146015. 10.3389/fneur.2023.1146015. Green open access
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Proceedings paper

de Visser, M; Carlier, P; Vencovský, J; Kubínová, K; Preusse, C; Albayda, J; Allenbach, Y; ... Verhamme, C; + view all (2023) 255th ENMC workshop: Muscle imaging in idiopathic inflammatory myopathies. 15th January, 16th January and 22nd January 2021 – virtual meeting and hybrid meeting on 9th and 19th September 2022 in Hoofddorp, The Netherlands. In: Neuromuscular Disorders: Volume 33, Issue 10. (pp. pp. 800-816). Elsevier

Working / discussion paper

Bandres-Ciga, Sara; Faghri, Faraz; Majounie, Elisa; Koretsky, Mathew J; Kim, Jeffrey; Levine, Kristin S; Leonard, Hampton; ... Vitale, Dan; + view all