Browse by UCL Departments and Centres
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Number of items: 26.
A
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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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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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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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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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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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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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J
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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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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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L
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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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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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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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S
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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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Santos, Eduardo Jose Ferreira;
Farisogullari, Bayram;
Yapp, Nicholas;
Townsley, Hermaleigh;
Sousa, Pedro;
Machado, Pedro M;
(2025)
Efficacy and safety of pharmacological treatments in inclusion body myositis: a systematic review.
RMD Open
, 11
(1)
, Article e005176. 10.1136/rmdopen-2024-005176.
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Schmutz, Valentin;
Brea, Johanni;
Gerstner, Wulfram;
(2025)
Emergent Rate-Based Dynamics in Duplicate-Free Populations of Spiking Neurons.
Physical Review Letters
, 134
(1)
, Article 018401. 10.1103/physrevlett.134.018401.
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Silva, Raisa Lomanto;
Carpio Tumba, Manuel;
Gupta, Sneha;
Louden, Diana;
Gupta, Latika;
Machado, Pedro M;
Paik, Julie J;
... Saygin, Didem; + view all
(2025)
Racial, Ethnic, Sex, and Geographical Diversity in Myositis Clinical Trials.
Arthritis Care & Research
10.1002/acr.25525.
(In press).
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Simkin, Rebecca L;
Rhymes, Ellie R;
Lang, Qiuhan;
Birsa, Nicol;
Sleigh, James N;
(2025)
Dissection and wholemount immunofluorescent staining of mouse hind-paw muscles for neuromuscular junction analysis.
Bio-protocol
(In press).
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T
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Turkdogan, Dilsad;
Smolina, Natalia;
Tekgul, Seyma;
Guel, Tugce;
Yesilyurt, Ahmet;
Houlden, Henry;
Zuchner, Stephan;
... Basak, Ayse Nazli; + view all
(2025)
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.
Movement Disorders
, 40
(2)
pp. 370-375.
10.1002/mds.30087.
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V
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van der Heijde, Désirée;
Navarro-Compán, Victoria;
Landewé, Robert;
Sieper, Joachim;
van Gaalen, Floris;
Gensler, Lianne S;
Machado, Pedro M;
... Baraliakos, Xenofon; + view all
(2025)
1995-2025: thirty years of ASAS and its contribution to the understanding of spondyloarthritis.
Annals of the Rheumatic Diseases
, 84
(3)
pp. 382-387.
10.1016/j.ard.2025.01.003.
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W
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Weber, Ulrich;
Seven, Sengül;
Pedersen, Susanne J;
Østergaard, Mikkel;
Machado, Pedro M;
Wichuk, Stephanie;
Baraliakos, Xenofon;
... Maksymowych, Walter P; + view all
(2025)
Impact of age on active and structural MRI lesions in sacroiliac joints of healthy individuals and non-specific back pain patients.
Journal of Rheumatology
10.3899/jrheum.2024-0563.
(In press).
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Wu, Y;
Cleverley, K;
Wiseman, FK;
(2025)
Reduction of Cystatin B results in increased cathepsin B activity in disomic but not Trisomy 21 human cellular and mouse models.
PLoS ONE
, 20
(1)
, Article e0316822. 10.1371/journal.pone.0316822.
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