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Number of items: 52.
A
Achermann, John C;
(2024)
Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond.
EBioMedicine
, 100
, Article 104984. 10.1016/j.ebiom.2024.104984.
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Alba-González, Anabel;
Dragomir, Elena I;
Haghdousti, Golsana;
Yáñez, Julián;
Dadswell, Chris;
González-Méndez, Ramón;
Wilson, Stephen W;
... Folgueira, Mónica; + view all
(2024)
Manganese Overexposure Alters Neurogranin Expression and Causes Behavioral Deficits in Larval Zebrafish.
International Journal of Molecular Sciences
, 25
(9)
, Article 4933. 10.3390/ijms25094933.
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B
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Baruteau, J;
Brunetti-Pierri, N;
Gissen, P;
(2024)
Liver-directed gene therapy for inherited metabolic diseases.
Journal of Inherited Metabolic Disease
, 47
(1)
pp. 9-21.
10.1002/jimd.12709.
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Baruteau, Julien;
Keshavan, Nandaki;
Venditti, Charles P;
(2024)
Mission possible: Gene therapy for inherited metabolic diseases.
Journal of Inherited Metabolic Disease
, 47
(1)
pp. 5-6.
10.1002/jimd.12708.
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Bernhardt, I;
Van Dorp, L;
Dixon, M;
McSweeney, M;
Gan, C;
Baruteau, J;
Chakrapani, A;
(2024)
Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.
JIMD Reports
, 65
(1)
pp. 10-16.
10.1002/jmd2.12405.
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Bookey, Niamh;
Drago, Paola;
Leung, Kit-Yi;
Hughes, Linda;
MacCooey, Aoife;
Ozaki, Mari;
Henry, Michael;
... Parle-McDermott, Anne; + view all
(2024)
The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.
Mol Cell Proteomics
, 23
(3)
, Article 100718. 10.1016/j.mcpro.2024.100718.
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Bremova-Ertl, Tatiana;
Ramaswami, Uma;
Brands, Marion;
Foltan, Tomas;
Gautschi, Matthias;
Gissen, Paul;
Gowing, Francesca;
... Martakis, Kyriakos; + view all
(2024)
Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C.
New England Journal of Medicine
, 390
(5)
pp. 421-431.
10.1056/nejmoa2310151.
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Bryant, Dale;
Barberan-Martin, Sara;
Maeshima, Ruhina;
Torres, Ignacio Del Valle;
Rabii, Mohammad;
Baird, William;
Sauvadet, Aimie;
... Kinsler, Veronica A; + view all
(2024)
RNA therapy for oncogenic NRAS-driven naevi induces apoptosis.
Journal of Investigative Dermatology
10.1016/j.jid.2024.04.031.
(In press).
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Buonocore, Federica;
Balys, Monika;
Anderson, Glenn;
Achermann, John C;
(2024)
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.
F1000Research
, 12
, Article 155. 10.12688/f1000research.129559.2.
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Burgoyne, Thomas;
Fassad, Mahmoud R;
Schultz, Rüdiger;
Elenius, Varpu;
Lim, Jacqueline SY;
Freke, Grace;
Rai, Ranjit;
... Sironen, Anu I; + view all
(2024)
HYDIN variants cause primary ciliary dyskinesia in the Finnish population.
Pediatric Pulmonology
10.1002/ppul.27267.
(In press).
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C
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Cameron-Pimblett, Antoinette;
La Rosa, Clementina;
Davies, Melanie C;
Suntharalingham, Jenifer P;
Ishida, Miho;
Achermann, John C;
Conway, Gerard S;
(2024)
Characterization of Turner Syndrome-associated Diabetes Mellitus.
The Journal of Clinical Endocrinology & Metabolism
, Article dgae357. 10.1210/clinem/dgae357.
(In press).
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Chen, Z;
Gustavsson, EK;
Macpherson, H;
Anderson, C;
Clarkson, C;
Rocca, C;
Self, E;
... Ptáček, LJ; + view all
(2024)
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Movement Disorders
10.1002/mds.29704.
(In press).
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Chen, Zhongbo;
Morris, Huw R;
Polke, James;
Wood, Nicholas W;
Gandhi, Sonia;
Ryten, Mina;
Houlden, Henry;
(2024)
Repeat expansion disorders.
Practical Neurology
10.1136/pn-2023-003938.
(In press).
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Chhabra, Preeti;
Tully, Damien C;
Mans, Janet;
Niendorf, Sandra;
Barclay, Leslie;
Cannon, Jennifer L;
Montmayeur, Anna M;
... Vinjé, Jan; + view all
(2024)
Emergence of Novel Norovirus GII.4 Variant.
Emerging Infectious Diseases
, 30
(1)
pp. 163-167.
10.3201/eid3001.231003.
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D
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Dodd, Daniel O;
Mechaussier, Sabrina;
Yeyati, Patricia L;
McPhie, Fraser;
Anderson, Jacob R;
Khoo, Chen Jing;
Shoemark, Amelia;
... Mill, Pleasantine; + view all
(2024)
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
, 384
(6694)
, Article eadf5489. 10.1126/science.adf5489.
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Dore, Rhys;
Nizza, Isabella E;
Mitchison, Hannah M;
Lewis, Celine;
(2024)
‘Don’t let it hold you back’ — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis.
Journal of Health Psychology
10.1177/13591053231223912.
(In press).
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Dorosh, Olha;
Bodak, Khrystyna;
Tsymbalyuk-Voloshyn, Iryna;
Makukh, Halyna;
Kreminska, Olena;
Hrytsiuk, Ihor;
Battisti, Laura;
... Yoshimi, Ayami; + view all
(2024)
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.
Pediatric Blood & Cancer
, Article e31294. 10.1002/pbc.31294.
(In press).
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Duff, Claire;
Islam, Madeha;
Gagliano, Onelia;
Pramod, Hema;
Rashidi, Hassan;
Kurian, Manju;
Gissen, Paul;
(2024)
Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.
Stem Cell Research
, 76
, Article 103365. 10.1016/j.scr.2024.103365.
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E
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Engin, Zeynep;
Gardner, Emily;
Hyde, Andrew;
Verhulst, Stefaan;
Crowcroft, Jon;
(2024)
Unleashing collective intelligence for public decision-making: the Data for Policy community.
Data & Policy
, 6
, Article e23. 10.1017/dap.2024.2.
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F
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Fu, Bin;
Brock, Emma E;
Andrews, Rebecca;
Breiter, Jonathan C;
Tian, Ru;
Toomey, Christina E;
Lachica, Joanne;
... Lee, Steven F; + view all
(2024)
RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds.
The Journal of Physical Chemistry B
, 128
(15)
pp. 3585-3597.
10.1021/acs.jpcb.4c00174.
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G
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Guri-Lamce, Ina;
Alrokh, Yara;
Graham, Carina;
Maeshima, Ruhina;
Rognoni, Emanuel;
Caley, Matthew;
Łaczmański, Łukasz;
... Jacków-Malinowska, Joanna; + view all
(2024)
Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In Vitro.
Journal of Investigative Dermatology
10.1016/j.jid.2024.03.027.
(In press).
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Gustavsson, Emil K;
Follett, Jordan;
Trinh, Joanne;
Barodia, Sandeep K;
Real, Raquel;
Liu, Zhiyong;
Grant-Peters, Melissa;
... Farrer, Matthew J; + view all
(2024)
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
The Lancet Neurology
10.1016/S1474-4422(24)00121-2.
(In press).
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H
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Hicks, Amy Rose Edith;
(2024)
Investigating the Role of the Non-Specific Lethal (NSL) Complex in Modifying Genes and Pathways Associated with Parkinson's Disease.
Doctoral thesis (Ph.D), UCL (University College London).
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Hirachan, R;
Horman, A;
Burke, D;
Heales, S;
(2024)
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.
JIMD Reports
, 65
(2)
pp. 124-131.
10.1002/jmd2.12413.
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Houzelstein, Denis;
Eozenou, Caroline;
Lagos, Carlos F;
Elzaiat, Maëva;
Bignon-Topalovic, Joelle;
Gonzalez, Inma;
Laville, Vincent;
... McElreavey, Ken; + view all
(2024)
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Nat Commun
, 15
(1)
, Article 2796. 10.1038/s41467-024-47162-2.
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Hughes, Connor T;
Dadhra, Jusvinder;
Polubothu, Satyamaanasa;
Kinsler, Veronica A;
(2024)
Vitamin D status in children with congenital melanocytic nevi.
Pediatric Dermatology
, 41
(1)
pp. 58-60.
10.1111/pde.15462.
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Huuki-Myers, Louise A;
Spangler, Abby;
Eagles, Nicholas J;
Montgomery, Kelsey D;
Kwon, Sang Ho;
Guo, Boyi;
Grant-Peters, Melissa;
... PsychENCODE Consortium; + view all
(2024)
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex.
Science
, 384
(6698)
, Article ARTN eadh1938. 10.1126/science.adh1938.
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I
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Illingworth, Christopher JR;
Guerra-Assuncao, Jose A;
Gregg, Samuel;
Charles, Oscar;
Pang, Juanita;
Roy, Sunando;
Abdelnabi, Rana;
... Breuer, Judith; + view all
(2024)
Genetic consequences of effective and suboptimal dosing with mutagenic drugs in a hamster model of SARS-CoV-2 infection.
Virus Evolution
, 10
(1)
, Article veae001. 10.1093/ve/veae001.
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J
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Jenkins, Dagan;
(2024)
How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?
Philosophical Transactions of the Royal Society B: Biological Sciences
, 379
(1900)
, Article 20230045. 10.1098/rstb.2023.0045.
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Jenkins, Dagan;
Chubb, Jonathan R;
Galea, Gabriel;
(2024)
Stochastic processes in development and disease.
Philosophical Transactions of the Royal Society B: Biological Sciences
, 379
(1900)
, Article 20230043. 10.1098/rstb.2023.0043.
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K
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Keshavan, N;
Minczuk, M;
Viscomi, C;
Rahman, S;
(2024)
Gene therapy for mitochondrial disorders.
Journal of Inherited Metabolic Disease
, 47
(1)
pp. 145-175.
10.1002/jimd.12699.
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Khalil, Youssef;
Footitt, Emma;
Vootukuri, Reddy;
Wempe, Michael F;
Coughlin, Curtis R;
Batzios, Spyros;
Wilson, Matthew P;
... Mills, Philippa B; + view all
(2024)
Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
Journal of Inherited Metabolic Disease
10.1002/jimd.12783.
(In press).
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Knoepfel Capelinha, Nicole;
(2024)
Disease mechanisms in cutaneous vascular disorders.
Doctoral thesis (Ph.D), UCL (University College London).
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L
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Lane, Dan;
Allsopp, Rebecca;
Holmes, Christopher W;
Slingsby, Oliver C;
Jukes-Jones, Rebekah;
Bird, Paul;
Anderson, N Leigh;
... Jones, Donald JL; + view all
(2024)
A high throughput immuno-affinity mass spectrometry method for detection and quantitation of SARS-CoV-2 nucleoprotein in human saliva and its comparison with RT-PCR, RT-LAMP, and lateral flow rapid antigen test.
Clinical Chemistry and Laboratory Medicine
10.1515/cclm-2023-0243.
(In press).
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Luo, Huihui;
Gustavsson, Emil K;
Macpherson, Hannah;
Dominik, Natalia;
Zhelcheska, Kristina;
Montgomery, Kylie;
Anderson, Claire;
... Chen, Zhongbo; + view all
(2024)
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Acta Neuropathol Commun
, 12
(1)
, Article 2. 10.1186/s40478-023-01706-7.
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M
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Maeshima, Ruhina;
Jacobs, Amy I;
Dalbay, Melis T;
Hart, Stephen L;
(2024)
BMI1 Transduction of Human Airway Epithelial Cells for Expansion of Proliferation and Differentiation.
In:
Cilia. Methods in Molecular Biology.
(pp. 225-237).
Humana Press: New York, NY, USA.
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McInnes-Dean, H;
Mellis, R;
Daniel, M;
Walton, H;
Baple, EL;
Bertoli, M;
Fisher, J;
... Peter, M; + view all
(2024)
‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
Prenatal Diagnosis
10.1002/pd.6537.
(In press).
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Motamed-Gorji, Nazgol;
Khalil, Youssef;
Gonzalez-Robles, Cristina;
Khan, Shamsher;
Mills, Philippa;
Garcia-Moreno, Hector;
Ging, Heather;
... Giunti, Paola; + view all
(2024)
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C.
Antioxidants
, 13
(5)
, Article 561. 10.3390/antiox13050561.
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Mukhopadhyay, Aakash G;
Toropova, Katerina;
Daly, Lydia;
Wells, Jennifer N;
Vuolo, Laura;
Mladenov, Miroslav;
Seda, Marian;
... Roberts, Anthony J; + view all
(2024)
Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.
The EMBO Journal
10.1038/s44318-024-00060-1.
(In press).
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N
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Nazmutdinova, Katia;
Man, Cheuk Yan;
Carter, Martyn;
Beales, Philip L;
Winyard, Paul JD;
Walsh, Stephen B;
Price, Karen L;
(2024)
Cell Catcher: A New Method to Extract and Preserve Live
Renal Cells from Urine.
Kidney360
, 5
(9)
pp. 1359-1363.
10.34067/KID.0000000000000503.
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P
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Polubothu, Satyamaanasa;
Riachi, Melissa;
Stadnik, Paulina;
Ogunbiyi, Olumide;
Braendli-Waelchli, Regula;
Cullup, Thomas;
Sebire, Neil J;
... Kinsler, Veronica A; + view all
(2024)
Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
Journal of the American Academy of Dermatology
10.1016/j.jaad.2024.01.075.
(In press).
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R
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Raidt, Johanna;
Riepenhausen, Sarah;
Pennekamp, Petra;
Olbrich, Heike;
Amirav, Israel;
Athanazio, Rodrigo A;
Aviram, Micha;
... Omran, Heymut; + view all
(2024)
Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
European Respiratory Journal
10.1183/13993003.01769-2023.
(In press).
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Ren, Ziyu;
(2024)
Dynamic proteomics reveals the mitochondrial
permeability transition pore can be formed by multiple
proteins.
Doctoral thesis (Ph.D), UCL (University College London).
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S
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Sagar, RL;
Åström, E;
Chitty, LS;
Crowe, B;
David, AL;
Devile, C;
Forsmark, A;
... Götherström, C; + view all
(2024)
An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: The BOOSTB4 trial protocol.
BMJ Open
, 14
(6)
, Article e079767. 10.1136/bmjopen-2023-079767.
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Schulz, A;
Specchio, N;
de los Reyes, E;
Gissen, P;
Nickel, M;
Trivisano, M;
Aylward, SC;
... Cohen Pfeffer, J; + view all
(2024)
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
Lancet Neurology
, 23
(1)
pp. 60-70.
10.1016/S1474-4422(23)00384-8.
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Selamioğlu, Arzu;
Balcı, Mehmet Cihan;
Karaca, Meryem;
Khalil, Youssef;
Hirachan, Rohit;
Durmuş Tekçe, Hacer;
Parman, Yeşim Gülşen;
... Gökçay, Gülden; + view all
(2024)
Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.
JIMD Reports
10.1002/jmd2.12437.
(In press).
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Song, Huiling;
Li, Haosheng;
Shen, Xiaonan;
Liu, Kuai;
Feng, Haoran;
Cui, Jiahua;
Wei, Wei;
... Du, Zixiu; + view all
(2024)
A pH-responsive Cetuximab-conjugated DMAKO-20 Nano-delivery System for Overcoming K-ras Mutations and Drug Resistance in Colorectal Carcinoma.
Acta Biomaterialia
10.1016/j.actbio.2024.01.047.
(In press).
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Spaull, Robert;
Soo, Audrey K;
Batzios, Spyros;
Footitt, Emma;
Whiteley, Rebecca;
Mink, Jonathan W;
Carr, Lucinda;
... Kurian, Manju A; + view all
(2024)
Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.
Neurology
, 103
(3)
, Article e209615. 10.1212/WNL.0000000000209615.
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T
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Thöny, B;
Ng, J;
Kurian, MA;
Mills, P;
Martinez, A;
(2024)
Mouse models for inherited monoamine neurotransmitter disorders.
Journal of Inherited Metabolic Disease
10.1002/jimd.12710.
(In press).
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V
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Valentino, Rebecca R;
Scotton, William J;
Roemer, Shanu F;
Lashley, Tammaryn;
Heckman, Michael G;
Shoai, Maryam;
Martinez-Carrasco, Alejandro;
... Wszolek, Zbigniew K; + view all
(2024)
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
The Lancet Neurology
, 23
(5)
pp. 487-499.
10.1016/s1474-4422(24)00083-8.
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Venturini, Cristina;
Colston, Julia M;
Charles, Oscar;
Lankina, Anastasia;
Best, Timothy;
Atkinson, Claire;
Forrest, Calum;
... Breuer, Judith; + view all
(2024)
Persistent Low-Level Variants in a Subset of Viral Genes Are Highly Predictive of Poor Outcome in Immunocompromised Patients With Cytomegalovirus Infection.
The Journal of Infectious Diseases
10.1093/infdis/jiae001.
(In press).
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Vilà-González, Marta;
Pinte, Laetitia;
Fradique, Ricardo;
Causa, Erika;
Kool, Heleen;
Rodrat, Mayuree;
Morell, Carola Maria;
... Vallier, Ludovic; + view all
(2024)
In vitro platform to model the function of ionocytes in the human airway epithelium.
Respiratory Research
, 25
(1)
, Article 180. 10.1186/s12931-024-02800-7.
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