Browse by UCL Departments and Centres
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Number of items: 75.
A
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Ahmed, Saad;
Machado, Pedro M;
(2025)
Evolution of the axial spondyloarthritis disease activity score and uptake in clinical practice.
Current Opinion in Rheumatology
10.1097/BOR.0000000000001100.
(In press).
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Akçimen, Fulya;
Paquette, Kimberly;
Wild Crea, Peter;
Step, Kathryn;
Waldo, Emily;
Koretsky, Mathew J;
Saffie-Awad, Paula;
... Bandres-Ciga, Sara; + view all
(2025)
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Brain
, Article awaf379. 10.1093/brain/awaf379.
(In press).
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Almaguer-Mederos, Luis-Enrique;
Kandi, Arvind Reddy;
Sen, Nesli-Ece;
Canet-Pons, Júlia;
Berger, Luca-Malena;
Stokes, Matthew P;
Abell, Kathryn;
... Auburger, Georg; + view all
(2025)
Spinal Cord Phosphoproteome of SCA2 Mouse Model Reveals Alteration of ATXN2-N-Term PRM–SH3–Actin Interactome and of Autophagy.
Molecular & Cellular Proteomics
, 24
(11)
, Article 101072. 10.1016/j.mcpro.2025.101072.
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Armirola-Ricaurte, Camila;
Morant, Laura;
Adant, Isabelle;
Hamed, Sherifa Ahmed;
Pipis, Menelaos;
Efthymiou, Stephanie;
Amor-Barris, Silvia;
... Jordanova, Albena; + view all
(2025)
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Brain
, Article awaf300. 10.1093/brain/awaf300.
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Asadollahi, Reza;
Ahmad, Aisha;
Boonsawat, Paranchai;
Shahanoor Hinzen, Jasmine;
Lohse, Mareike;
Bouazza-Arostegui, Boris;
Sun, Siqi;
... Lipstein, Noa; + view all
(2025)
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Nature Genetics
10.1038/s41588-025-02361-5.
(In press).
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Aughey, Gabriel N;
Cali, Elisa;
Maroofian, Reza;
Zaki, Maha S;
Pagnamenta, Alistair T;
Ali, Zafar;
Abdulllah, Uzma;
... Houlden, Henry; + view all
(2025)
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Brain
, 148
(4)
pp. 1194-1211.
10.1093/brain/awae363.
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Aynekin, Busra;
Akbaş, Sinan;
Gulec, Ayten;
Gumus, Ummu Gulsum Ozgul;
Guner, Abdullah Emre;
Efthymiou, Stephanie;
Houlden, Henry;
... Per, Huseyin; + view all
(2025)
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
, 26
, Article 23. 10.1007/s10048-025-00799-7.
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B
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Balendra, R;
Sreedharan, J;
Hallegger, M;
Luisier, R;
Lashuel, HA;
Gregory, JM;
Patani, R;
(2025)
Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.
The Lancet Neurology
, 24
(5)
pp. 456-470.
10.1016/S1474-4422(25)00109-7.
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Beijer, Danique;
Dohrn, Maike F;
Rebelo, Adriana;
Danzi, Matt C;
Grosz, Bianca Rose;
Ellis, Melina;
Kumar, Kishore R;
... Zuchner, Stephan; + view all
(2025)
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Brain
, 148
(1)
pp. 227-237.
10.1093/brain/awae206.
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Brown, Rachel L;
(2025)
Understanding T cell immunity in anti-NMDAR encephalitis:
Developing therapeutic tools for neurological autoimmunity.
Doctoral thesis (Ph.D), UCL (University College London).
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Bryce-Smith, Sam;
Brown, Anna-Leigh;
Chien, Max ZYJ;
Dattilo, Dario;
Mehta, Puja R;
Mattedi, Francesca;
Barattucci, Simone;
... Fratta, Pietro; + view all
(2025)
TDP-43 loss induces cryptic polyadenylation in ALS/FTD.
Nature Neuroscience
10.1038/s41593-025-02050-w.
(In press).
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Buchert, Rebecca;
Burkhalter, Martin D;
Huridou, Chrisovalantou;
Sofan, Linda;
Roser, Timo;
Cremer, Kirsten;
Alvi, Javeria Raza;
... Haack, Tobias B; + view all
(2025)
KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
American Journal of Human Genetics (AJHG)
, 112
(2)
pp. 374-393.
10.1016/j.ajhg.2024.12.019.
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C
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Calame, DG;
Wong, JH;
Panda, P;
Nguyen, DT;
Leong, NCP;
Sangermano, R;
Patankar, SG;
... Nguyen, LN; + view all
(2025)
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Genetics in Medicine
, 27
(1)
, Article 101273. 10.1016/j.gim.2024.101273.
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Campanilho-Marques, Raquel;
Fonseca, João Eurico;
Machado, Pedro M;
(2025)
Treatment of idiopathic inflammatory myopathies.
Joint Bone Spine
, 92
(6)
, Article 105932. 10.1016/j.jbspin.2025.105932.
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Chelban, Viorica;
Pellerin, David;
Vijiaratnam, Nirosen;
Lee, Hamin;
Goh, Yen Yee;
Brown, Lauren;
Sambin, Sara;
... Houlden, Henry; + view all
(2025)
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Brain
, Article awaf134. 10.1093/brain/awaf134.
(In press).
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Cif, Laura;
Limousin, Patricia;
Souei, Zohra;
Hariz, Marwan;
Krauss, Joachim K;
(2025)
Alternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.
Movement Disorders Clinical Practice
10.1002/mdc3.14324.
(In press).
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Cipriani, V;
Vestito, L;
Magavern, EF;
Jacobsen, JOB;
Arno, G;
Behr, ER;
Benson, KA;
... Smedley, D; + view all
(2025)
Rare disease gene association discovery in the 100,000 Genomes Project.
Nature
10.1038/s41586-025-08623-w.
(In press).
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Crozat, Elysa;
Blasco, Edith;
Ramirez-Franco, Jorge;
Riondel, Priscille;
Jurčić, Nina;
Seddik, Riad;
Michelle, Caroline;
... Wanaverbecq, Nicolas; + view all
(2025)
Cerebrospinal fluid-contacting neurons are sensory neurons with uniform morphological and region-specific electrophysiological properties in the mouse spinal cord.
Communications Biology
, 8
, Article 1233. 10.1038/s42003-025-08559-x.
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D
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Degirmenci, H Berk;
Peloquin, Christine E;
Westerland, Maggie;
Lodi, Sara;
Machado, Pedro M;
Jafarzadeh, S Reza;
Neogi, Tuhina;
... Liew, Jean W; + view all
(2025)
Trends in Opioid Prescriptions in Individuals with Axial Spondyloarthritis in the US and UK in the Last Two Decades: Analysis of Electronic Health Records and Insurance Claims Data.
Arthritis Care & Research
10.1002/acr.25655.
(In press).
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E
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El-Dessouky, Sara H;
Sharaf-Eldin, Wessam E;
Aboulghar, Mona M;
Mousa, Hatem A;
Zaki, Maha S;
Maroofian, Reza;
Senousy, Sameh M;
... Abdalla, Ebtesam M; + view all
(2025)
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.
Clinical Genetics
10.1111/cge.14712.
(In press).
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F
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Fabre, Julie Marie Jacqueline;
(2025)
Visual stimulus features are represented throughout the basal ganglia and potentiated by learning.
Doctoral thesis (Ph.D), UCL (University College London).
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Fall, Maouly;
Seck, Moussa;
Diop, Alassane Mamadou;
Kahwagi, Jamil;
Yimta, Grace Tsemo;
Guéye, Allé;
Cruz, Pedro Rodriguez;
(2025)
Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome.
The Lancet
10.1016/S0140-6736(25)00395-2.
(In press).
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Feng, Xiyu;
Xie, Hua;
Piper, Rory J;
Prentice, Freya;
Eriksson, Maria H;
Illapani, Venkata Sita Priyanka;
Reppert, Lauren;
... Sepeta, Leigh; + view all
(2025)
Altered thalamic connectivity patterns in pediatric temporal lobe epilepsy: A gradient mapping study.
Epilepsia
10.1111/epi.18515.
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Fertan, Emre;
Hung, Christy;
Danial, John SH;
Lam, Jeff YL;
Preman, Pranav;
Albertini, Giulia;
English, Elizabeth A;
... Klenerman, David; + view all
(2025)
Clearance of beta-amyloid and tau aggregates is size dependent and altered by an inflammatory challenge.
Brain Communications
, 7
(1)
, Article fcae454. 10.1093/braincomms/fcae454.
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G
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Gagliardi, Delia;
Wade, Charles;
Tucci, Arianna;
Houlden, Henry;
Chataway, Jeremy;
Barkhof, Frederik;
Lynch, David S;
(2025)
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.
Journal of Neurology, Neurosurgery & Psychiatry
, 96
(8)
pp. 728-735.
10.1136/jnnp-2024-335089.
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Gayathri, S;
Aravind, MK;
Gowda, VK;
Varalakshmi, P;
Chatterjee, C;
Matheshwaran, S;
Efthymiou, S;
... Ashokkumar, B; + view all
(2025)
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes.
Brain and Development
, 47
(3)
, Article 104355. 10.1016/j.braindev.2025.104355.
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Genis, David;
Alemany, Berta;
Pellerin, David;
Brais, Bernard;
Dicaire, Marie-Josee;
Volpini, Victor;
Campos, Berta;
... Torrenta, Lluis; + view all
(2025)
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.
Journal of Neurology
, 272
(3)
, Article 235. 10.1007/s00415-025-12964-x.
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German, Hannah M;
Zaki, Maha S;
Usmani, Muhammad A;
Karagoz, Irem;
Efthymiou, Stephanie;
Abdel-Hamid, Mohamed S;
Arabiyat, Haya Abdelhafez;
... Maroofian, Reza; + view all
(2025)
Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements.
Genetics in Medicine
, Article 101587. 10.1016/j.gim.2025.101587.
(In press).
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Ghosh, Saikat;
Singh, Jaskaran;
Damseh, Nadirah S;
Severino, Mariasavina;
De Pace, Raffaella;
Golding, Adriana E;
Jarnik, Michal;
... Bonifacino, Juan S; + view all
(2025)
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Brain
10.1093/brain/awaf371.
(In press).
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Guillouet, Charlotte;
Agostini, Valeria;
Baujat, Geneviève;
Cocciadiferro, Dario;
Pippucci, Tommaso;
Lesieur-Sebellin, Marion;
Georget, Mathieu;
... Gordon, Christopher T; + view all
(2025)
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
American Journal of Human Genetics
, 112
(4)
pp. 829-845.
10.1016/j.ajhg.2025.02.016.
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H
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Hildonen, M;
Ciolfi, A;
Ferilli, M;
Cappelletti, C;
Al Alam, C;
Amor, DJ;
Barakat, TS;
... Tartaglia, M; + view all
(2025)
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
European Journal of Human Genetics
10.1038/s41431-025-01876-z.
(In press).
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Hocquel, Armand;
Pellerin, David;
Mereaux, Jean loup;
Huin, Vincent;
Hadjivassiliou, Marios;
Clement, Guillemette;
Villa, Felipe;
... Renaud, Mathilde; + view all
(2025)
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.
Journal of Neurology
, 272
(8)
, Article 500. 10.1007/s00415-025-13234-6.
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J
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Jacob, Maureen;
Kölbel, Heike;
Harrer, Philip;
Kopajtich, Robert;
Munot, Pinki;
Achleitner, Melanie T;
Badmann, Susann;
... Wagner, Matias; + view all
(2025)
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Brain
10.1093/brain/awaf227.
(In press).
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Jia, Rui;
TBNALS, group;
(2025)
Tetramethylpyrazine Nitrone in Amyotrophic Lateral Sclerosis. A Randomized Clinical Trial.
JAMA Network Open
, 8
(2)
, Article e2461055. 10.1001/jamanetworkopen.2024.61055.
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Jung, Vincent;
Vincent-Cuaz, Cédric;
Tumescheit, Charlotte;
Fournier, Lisa;
Darsinou, Marousa;
Xu, Zhi Ming;
Saadat, Ali;
... Luisier, Raphaëlle; + view all
(2025)
Decoding the interactions and functions of non-coding RNA with artificial intelligence.
Nature Reviews Molecular Cell Biology
10.1038/s41580-025-00857-w.
(In press).
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K
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Kempthorne, Liam;
Vaizoglu, Deniz;
Cammack, Alexander J;
Carcolé, Mireia;
Roberts, Martha J;
Mikheenko, Alla;
Fisher, Alessia;
... Isaacs, Adrian M; + view all
(2025)
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.
Nature Communications
, 16
, Article 459. 10.1038/s41467-024-55550-x.
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Key, Jana;
Almaguer-Mederos, Luis-Enrique;
Kandi, Arvind Reddy;
Fellenz, Meike;
Gispert, Suzana;
Köpf, Gabriele;
Meierhofer, David;
... Auburger, Georg; + view all
(2025)
Conditional ATXN2L-Null in Adult Frontal Cortex CamK2a+ Neurons Does Not Cause Cell Death but Restricts Spontaneous Mobility and Affects the Alternative Splicing Pathway.
Cells
, 14
(19)
, Article 1532. 10.3390/cells14191532.
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Key, Jana;
Almaguer-Mederos, Luis-Enrique;
Kandi, Arvind Reddy;
Sen, Nesli-Ece;
Gispert, Suzana;
Köpf, Gabriele;
Meierhofer, David;
(2025)
ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulation.
Neurobiology of Disease
, 209
, Article 106903. 10.1016/j.nbd.2025.106903.
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Khan, Hayat;
Ilyas, Muhammad;
Qasim, Hina;
Zeb, Humaira;
Israr, Muhammad;
Iqbal, Amjad;
Ullah, Ahmad;
... Tariq, Muhammad; + view all
(2025)
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family.
Neurogenetics
, 26
(1)
, Article 60. 10.1007/s10048-025-00838-3.
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Koay, S;
Vichayanrat, E;
Bremner, F;
Valerio, F;
Mackenzie, R;
Chiaro, G;
Ingle, G;
... Iodice, V; + view all
(2025)
Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure.
Annals of Clinical and Translational Neurology
10.1002/acn3.70140.
(In press).
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Koay, Shiwen;
Chen, Yi-Chun;
Ransley, George;
Compton, Laura;
Lunn, Michael P;
Carr, Aisling S;
(2025)
Safety and Cost Analysis of Immunoglobulin Cessation Trials in Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
Journal of the Peripheral Nervous System
, 30
(1)
, Article e70007. 10.1111/jns.70007.
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L
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Lang, Qiuhan;
(2025)
Investigating the role of neurotrophins in regulating axonal transport and morphology of mitochondria in Charcot-Marie-Tooth disease.
Doctoral thesis (Ph.D), UCL (University College London).
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Lopes, Douglas M;
Llewellyn, Sophie K;
Bury, Sheila E;
Wang, Jiazheng;
Wells, Jack A;
Gegg, Matthew E;
Verona, Guglielmo;
... Harrison, Ian F; + view all
(2025)
The influence of the glymphatic system on α-synuclein propagation: the role of aquaporin-4.
Brain
, Article awaf255. 10.1093/brain/awaf255.
(In press).
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Lujan, Agustin Leonardo;
Foresti, Ombretta;
Wojnacki, Jose;
Bigliani, Gonzalo;
Brouwers, Nathalie;
Pena, Maria Jesus;
Androulaki, Stefania;
... Malhotra, Vivek; + view all
(2025)
TANGO2 is an acyl-CoA binding protein.
Journal of Cell Biology
, 224
(5)
, Article e202410001. 10.1083/jcb.202410001.
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M
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Magrinelli, Francesca;
Taylor, Lucie S;
Sedighzadeh, Sahar;
Moualek, Dalila;
Severino, Mariasavina;
Grba, Daniel N;
Alston, Charlotte L;
... Maroofian, Reza; + view all
(2025)
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Brain Communications
, 7
(5)
, Article fcaf369. 10.1093/braincomms/fcaf369.
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McDougall, Jessica;
Cragg, Jacquelyn J;
Brownstone, Robert M;
Kramer, John LK;
(2025)
The Power of Placebo to Restore Neurological Function After Spinal Cord Injury: Implications for Neuromodulation.
Neurorehabilitation and Neural Repair
10.1177/15459683251335331.
(In press).
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Mehta, Puja R;
(2025)
TDP-43 loss of function-dependent mis-splicing in amyotrophic lateral sclerosis: molecular insights & development of modified U7 snRNA therapies.
Doctoral thesis (Ph.D), UCL (University College London).
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N
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Noel, JP;
Balzani, E;
Acerbi, L;
Benson, J;
Witten, IB;
Winter, O;
Whiteway, MR;
... Angelaki, DE; + view all
(2025)
A common computational and neural anomaly across mouse models of autism.
Nature Neuroscience
10.1038/s41593-025-01965-8.
(In press).
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O
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Ostrozovicova, Miriam;
Tamas, Gertrud;
Atputhavadivel, Agsha;
Dusek, Petr;
Grofik, Milan;
Han, Vladimir;
Holly, Petr;
... Skorvanek, Matej; + view all
(2025)
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.
Movement Disorders Clinical Practice
10.1002/mdc3.70045.
(In press).
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P
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Panzi, Chiara;
(2025)
Modulation of the spread of pathological
tau in vitro and in vivo.
Doctoral thesis (Ph.D), UCL (University College London).
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Pascual-Valdunciel, Alejandro;
Cónsul, Natalia T;
Brownstone, Robert M;
Beato, Marco;
Farina, Dario;
Nascimento, Filipe;
Özyurt, M Görkem;
(2025)
Personalized mapping of inhibitory spinal cord circuits in humans via noninvasive neural decoding and in silico modeling.
Science Advances
, 11
(38)
, Article eadz5524. 10.1126/sciadv.adz5524.
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Pastore, Luigi Vincenzo;
Sudhakar, Sniya Valsa;
Mankad, Kshitij;
De Vita, Enrico;
Biswas, Asthik;
Tisdall, Martin M;
Chari, Aswin;
... D'Arco, Felice; + view all
(2025)
Integrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.
Neuroradiology
, 67
pp. 665-675.
10.1007/s00234-024-03488-8.
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Pellerin, David;
Iruzubieta, Pablo;
Xu, Isaac RL;
Danzi, Matt C;
Cortese, Andrea;
Synofzik, Matthis;
Houlden, Henry;
... Brais, Bernard; + view all
(2025)
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.
Current Neurology and Neuroscience Reports
, 25
, Article 16. 10.1007/s11910-024-01400-8.
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Pellerin, David;
Méreaux, Jean-Loup;
Boluda, Susana;
Danzi, Matt C;
Dicaire, Marie-Josée;
Davoine, Claire-Sophie;
Genis, David;
... Brais, Bernard; + view all
(2025)
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Brain
, 148
(4)
pp. 1258-1270.
10.1093/brain/awae312.
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R
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Rizig, Mie;
(2025)
The case for investing in global genomic medicine.
Nature Medicine
, 31
(2)
, Article 366. 10.1038/s41591-024-03461-1.
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Romano, Francesco;
Rocca, Maria A;
Pagani, Elisabetta;
Amato, Maria Pia;
Brichetto, Giampaolo;
Chataway, Jeremy;
Chiaravalloti, Nancy D;
... Filippi, Massimo; + view all
(2025)
Effects of cognitive rehabilitation and exercise on brain structure in progressive multiple sclerosis: results from the CogEx trial.
Journal of Neurology
, 272
, Article 645. 10.1007/s00415-025-13382-9.
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S
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Sahi, Nitin;
Ciccarelli, Olga;
Houlden, Henry;
Chard, Declan T;
(2025)
Unlocking Multiple Sclerosis Genetics.
Neurology
, 105
(8)
, Article e214141. 10.1212/wnl.0000000000214141.
(In press).
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Salam, Sharfaraz;
Morrow, Jasper M;
McDermott, Michael P;
Zafeiropoulos, Nicholas;
Thornton, John S;
Shah, Sachit;
Wastling, Stephen;
... Machado, Pedro M; + view all
(2025)
Quantitative muscle magnetic resonance imaging as a biomarker for inclusion body myositis in clinical trials: exploring the in vivo effects of arimoclomol.
Clinical and Experimental Rheumatology
, 43
(2)
pp. 334-344.
10.55563/clinexprheumatol/5b9lme.
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Salam, Sharfaraz;
Morrow, Jasper M;
Shah, Sachit;
Hanna, Michael G;
Dimachkie, Mazen M;
Machado, Pedro M;
(2025)
Imaging evaluation of the upper limbs in inclusion body myositis: an unmet need.
Clinical and Experimental Rheumatology
, 43
(2)
pp. 372-378.
10.55563/clinexprheumatol/q7ozm2.
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Salayev, K;
Guliyeva, U;
Guliyeva, S;
Kaiyrzhanov, R;
Aslanova, U;
Hajiyeva, N;
Houlden, H;
(2025)
Attitudes of parents of children with rare neurological disorders towards clinical genetic testing.
Journal of Community Genetics
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The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.
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