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Number of items: 213.
A
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.
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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.
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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).
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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).
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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.
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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).
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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.
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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 and Development
, 45
(10)
pp. 588-596.
10.1016/j.braindev.2023.07.004.
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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.
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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.
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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.
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B
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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.
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Bandres-Ciga, Sara;
Faghri, Faraz;
Majounie, Elisa;
Koretsky, Mathew J;
Kim, Jeffrey;
Levine, Kristin S;
Leonard, Hampton;
... Vitale, Dan; + view all
(2023)
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
medRxiv.org: Cold Spring Harbor, NY, USA.
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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.
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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.
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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).
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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).
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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).
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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.
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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.
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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.
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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.
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C
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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).
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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.
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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).
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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).
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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.
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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).
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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).
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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.
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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).
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Coleman, Annabelle;
Touzé, Alexiane;
Farag, Mena;
Pengo, Marta;
Murphy, Michael J;
Hassan, Yara;
Thackeray, Olivia;
... Byrne, Lauren M; + view all
(2023)
Validation of remote collection and quantification of blood Neurofilament light in neurological diseases.
MedRxiv: Cold Spring Harbor, NY, USA.
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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).
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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.
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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.
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D
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D'Antona, Linda;
(2023)
Intracranial Pressure Monitoring in Cerebrospinal Fluid Dynamics Disturbances.
Doctoral thesis (Ph.D), UCL (University College London).
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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.
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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).
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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.
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Das, Adrito;
Khan, Danyal;
Williams, Simon;
Hanrahan, John;
Borg, Anouk;
Dorward, neil;
Bano, Sophia;
... Stoyanov, Danail; + view all
(2023)
A Multi-task Network for Anatomy Identification in Endoscopic Pituitary Surgery.
In: Greenspan, Hayit and Madabhushi, Anant and Mousavi, Parvin and Salcudean, Septimiu and Duncan, James and Syeda-Mahmood, Tanveer and Taylor, Russell, (eds.)
Medical Image Computing and Computer Assisted Intervention – MICCAI 2023.
(pp. 472-482).
Springer: Cham, Switzerland.
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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).
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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
, 147
(4)
, Article awad427. 10.1093/brain/awad427.
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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: Amsterdam, Netherlands.
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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.
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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).
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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).
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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).
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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
, 46
(6)
pp. 1195-1205.
10.1002/jimd.12679.
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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).
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E
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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.
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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).
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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.
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Engel, Camille;
Valence, Stéphanie;
Delplancq, Geoffroy;
Maroofian, Reza;
Accogli, Andrea;
Agolini, Emanuele;
Alkuraya, Fowzan S;
... Piard, Juliette; + view all
(2023)
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European Journal of Human Genetics
, 31
pp. 1023-1031.
10.1038/s41431-023-01410-z.
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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.
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F
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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.
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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.
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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).
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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.
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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.
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Fernández-Eulate, Gorka;
Theuriet, Julian;
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