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Number of items: 328.
Article
Abdalla, G;
Dixon, L;
Sanverdi, E;
Machado, PM;
Kwong, JSW;
Panovska-Griffiths, J;
Rojas-Garcia, A;
... Bisdas, S; + view all
(2020)
The diagnostic role of diffusional kurtosis imaging in glioma grading and differentiation of gliomas from other intra-axial brain tumours: a systematic review with critical appraisal and meta-analysis.
Neuroradiology
10.1007/s00234-020-02425-9.
(In press).
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Abouward, R;
Schiavo, G;
(2020)
Walking the line: mechanisms underlying directional mRNA transport and localisation in neurons and beyond.
Cellular and Molecular Life Sciences
10.1007/s00018-020-03724-3.
(In press).
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Abramzon, YA;
Fratta, P;
Traynor, BJ;
Chia, R;
(2020)
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Frontiers In Neuroscience
, 14
, Article 42. 10.3389/fnins.2020.00042.
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Aghaizu, ND;
Jin, H;
Whiting, PJ;
(2020)
Dysregulated Wnt Signalling in the Alzheimer's Brain.
Brain Sciences
, 10
(12)
p. 902.
10.3390/brainsci10120902.
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Agrawal, P;
Machado, PM;
(2020)
Recent advances in managing axial spondyloarthritis.
F1000Research
, 9
, Article 697. 10.12688/f1000research.22577.1.
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Aitken, J;
Ambrose, K;
Barrell, S;
Beale, R;
Bineva-Todd, G;
Biswas, D;
Byrne, R;
... Wu, M; + view all
(2020)
Scalable and robust SARS-CoV-2 testing in an academic center.
Nature Biotechnology
, 38
(8)
pp. 927-931.
10.1038/s41587-020-0588-y.
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Alam, A;
Thelin, EP;
Tajsic, T;
Khan, DZ;
Khellaf, A;
Patani, R;
Helmy, A;
(2020)
Cellular infiltration in traumatic brain injury.
Journal of Neuroinflammation
, 17
(1)
, Article 328. 10.1186/s12974-020-02005-x.
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Alghamdi, AH;
Munday, JC;
Campagnaro, GD;
Gurvic, D;
Svensson, F;
Okpara, CE;
Kumar, A;
... De Koning, HP; + view all
(2020)
Positively selected modifications in the pore of TbAQP2 allow pentamidine to enter Trypanosoma brucei.
Elife
, 9
, Article e56416. 10.7554/eLife.56416.
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Alić, I;
Goh, PA;
Murray, A;
Portelius, E;
Gkanatsiou, E;
Gough, G;
Mok, KY;
... Nižetić, D; + view all
(2020)
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Molecular Psychiatry
10.1038/s41380-020-0806-5.
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Alles, SRA;
Nascimento, F;
Luján, R;
Luiz, AP;
Millet, Q;
Bangash, MA;
Santana-Varela, S;
... Wood, JN; + view all
(2020)
Sensory neuron–derived NaV1.7 contributes to dorsal horn neuron excitability.
Science Advances
, 6
(8)
, Article eaax4568. 10.1126/sciadv.aax4568.
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Almarzouki, A;
Wilson, D;
Ambler, G;
Shakeshaft, C;
Cohen, H;
Yousry, T;
Salman, RA-S;
... Werring, DJ; + view all
(2020)
Sensitivity and specifcity of blood‑fuid levels for oral anticoagulant‑associated intracerebral haemorrhage.
Scientific Reports
, 10
(1)
, Article 15529. 10.1038/s41598-020-72504-7.
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Aranda-Valera, IC;
Cuesta-Vargas, A;
Garrido-Castro, JL;
Gardiner, PV;
López-Medina, C;
Machado, PM;
Condell, J;
... On Behalf Of iMaxSpA Study Group; + view all
(2020)
Measuring Spinal Mobility Using an Inertial Measurement Unit System: A Validation Study in Axial Spondyloarthritis.
Diagnostics
, 10
(6)
, Article 426. 10.3390/diagnostics10060426.
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Atkinson, BN;
Chudasama, V;
Browne, LE;
(2020)
Controlling Engineered P2X Receptors with Light.
Methods in Molecular Biology
, 2041
pp. 301-309.
10.1007/978-1-4939-9717-6_22.
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Ayele, BA;
Rizig, M;
Amogne, W;
Zenebe, Y;
Demissie, H;
Gams Massi, D;
El-Sadig, S;
... Abd-Allah, F; + view all
(2020)
COVID-19 and the state of African neurology.
European Journal of Neurology
, 27
(9)
e48-e49.
10.1111/ene.14404.
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Azad, B;
Efthymiou, S;
Sultan, T;
Scala, M;
Alvi, JR;
Neuray, C;
Dominik, N;
... Houlden, H; + view all
(2020)
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.
Journal of the Neurological Sciences
, 414
, Article 116826. 10.1016/j.jns.2020.116826.
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Azzarito, M;
Kyathanahally, SP;
Balbastre, Y;
Seif, M;
Blaiotta, C;
Callaghan, MF;
Ashburner, J;
(2020)
Simultaneous voxel‐wise analysis of brain and spinal cord morphometry and microstructure within the SPM framework.
Human Brain Mapping
10.1002/hbm.25218.
(In press).
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Azzarito, M;
Seif, M;
Kyathanahally, S;
Curt, A;
Freund, P;
(2020)
Tracking the neurodegenerative gradient after spinal cord injury.
NeuroImage: Clinical
, 26
, Article 102221. 10.1016/j.nicl.2020.102221.
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Baheerathan, A;
Pitceathly, RDS;
Curtis, C;
Davies, NWS;
(2020)
CSF lactate.
Practical Neurology
10.1136/practneurol-2019-002191.
(In press).
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Bakker, MK;
van der Spek, RAA;
van Rheenen, W;
Morel, S;
Bourcier, R;
Hostettler, IC;
Alg, VS;
... Ruigrok, YM; + view all
(2020)
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
Nature Genetics
, 52
(12)
pp. 1303-1313.
10.1038/s41588-020-00725-7.
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Balaratnam, M;
Donnelly, A;
Padilla, H;
Simeoni, S;
Bahadur, S;
Keenan, L;
Lee, H;
... Stevenson, V; + view all
(2020)
Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines.
Neuromodulation
, 23
(7)
pp. 991-995.
10.1111/ner.13071.
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Bampton, A;
Gittings, LM;
Fratta, P;
Lashley, T;
Gatt, A;
(2020)
The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis.
Acta Neuropathologica
10.1007/s00401-020-02203-0.
(In press).
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Banerjee, G;
Ambler, G;
Wilson, D;
Hostettler, IC;
Shakeshaft, C;
Lunawat, S;
Cohen, H;
... CROMIS-2 collaborators, .; + view all
(2020)
Baseline factors associated with early and late death in intracerebral haemorrhage survivors.
European Journal of Neurology
, 27
(7)
pp. 1257-1263.
10.1111/ene.14238.
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Banerjee, G;
Chan, E;
Ambler, G;
Wilson, D;
Cipolotti, L;
Shakeshaft, C;
Cohen, H;
... CROMIS‐2 Collaborators, *; + view all
(2020)
Cognitive Impairment Before Atrial Fibrillation-Related Ischemic Events: Neuroimaging and Prognostic Associations.
Journal of the American Heart Association
, 9
(1)
, Article e014537. 10.1161/JAHA.119.014537.
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Banerjee, G;
Wilson, D;
Ambler, G;
Hostettler, IC;
Shakeshaft, C;
Cohen, H;
Yousry, T;
... CROMIS-2 collaborators; + view all
(2020)
Longer term stroke risk in intracerebral haemorrhage survivors.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2020-323079.
(In press).
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Baraliakos, X;
Van den Bosch, F;
Machado, PM;
Gensler, LS;
Marzo-Ortega, H;
Sherif, B;
Quebe-Fehling, E;
... Deodhar, A; + view all
(2020)
Achievement of Remission Endpoints with Secukinumab Over 3 Years in Active Ankylosing Spondylitis: Pooled Analysis of Two Phase 3 Studies.
Rheumatology and Therapy
10.1007/s40744-020-00269-6.
(In press).
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Beecroft, SJ;
Cortese, A;
Sullivan, R;
Yau, WY;
Dyer, Z;
Wu, TY;
Mulroy, E;
... Roxburgh, RH; + view all
(2020)
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Brain
, 143
(9)
pp. 2673-2680.
10.1093/brain/awaa203.
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Bellenie, BR;
Cheung, K-MJ;
Varela, A;
Pierrat, OA;
Collie, GW;
Box, GM;
Bright, MD;
... Hoelder, S; + view all
(2020)
Achieving In Vivo Target Depletion through the Discovery and Optimization of Benzimidazolone BCL6 Degraders.
Journal of Medicinal Chemistry
, 63
(8)
pp. 4047-4068.
10.1021/acs.jmedchem.9b02076.
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Bendotti, C;
Bonetto, V;
Pupillo, E;
Logroscino, G;
Al-Chalabi, A;
Lunetta, C;
Riva, N;
... Beghi, E; + view all
(2020)
Focus on the heterogeneity of amyotrophic lateral sclerosis.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
, 21
(7-8)
pp. 485-495.
10.1080/21678421.2020.1779298.
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Benilova, I;
Reilly, M;
Terry, C;
Wenborn, A;
Schmidt, C;
Marinho, AT;
Risse, E;
... Collinge, J; + view all
(2020)
Highly infectious prions are not directly neurotoxic.
Proceeding of the National Academy of Sciences of the United States of America
10.1073/pnas.2007406117.
(In press).
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Berke Göztepe, M;
Görkem Özyurt, M;
Sitki Türker, K;
Uysal, H;
(2020)
Comparison of the temporal properties of medium latency responses induced by cortical and peripheral stimulation.
Journal of Electromyography and Kinesiology
, 55
, Article 102477. 10.1016/j.jelekin.2020.102477.
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Best, JG;
Barbato, C;
Ambler, G;
Du, H;
Banerjee, G;
Wilson, D;
Shakeshaft, C;
... Clinical Relevance of Microbleeds in Stroke (CROMIS-2) collabora; + view all
(2020)
Association of enlarged perivascular spaces and anticoagulant-related intracranial hemorrhage.
Neurology
10.1212/WNL.0000000000010788.
(In press).
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Beyrouti, R;
Adams, ME;
Benjamin, L;
Cohen, H;
Farmer, SF;
Goh, YY;
Humphries, F;
... Werring, DJ; + view all
(2020)
Characteristics of ischaemic stroke associated with COVID-19.
[Letter].
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2020-323586.
(In press).
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Bhagat, J;
Wells, MJ;
Harris, KD;
Carandini, M;
Burgess, CP;
(2020)
Rigbox: An Open-Source Toolbox for Probing Neurons and Behavior.
eNeuro
10.1523/ENEURO.0406-19.2020.
(In press).
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Bibi, F;
Efthymiou, S;
Bourinaris, T;
Tariq, A;
Zafar, F;
Rana, N;
Salpietro, V;
... Minhas, NM; + view all
(2020)
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
Journal of the Neurological Sciences
, 411
, Article 116669. 10.1016/j.jns.2020.116669.
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Bibi, F;
Haider, N;
Din, SU;
Shah, M;
Krishin, J;
Qayyum, N;
Raja, GK;
... Ullah, A; + view all
(2020)
Sequence Variants in Three Genes Underlying Leukodystrophy in Pakistani Families.
International Journal of Developmental Neuroscience
, 80
(5)
pp. 380-388.
10.1002/jdn.10036.
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Birsa, N;
Bentham, MP;
Fratta, P;
(2020)
Cytoplasmic functions of TDP-43 and FUS and their role in ALS.
Seminars in Cell & Developmental Biology
, 99
pp. 193-201.
10.1016/j.semcdb.2019.05.023.
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Bis-Brewer, DM;
Gan-Or, Z;
Sleiman, P;
Rodriguez, A;
Bacha, A;
Kosikowski, A;
Wood, B;
... Züchner, S; + view all
(2020)
Assessing non-Mendelian inheritance in inherited axonopathies.
Genetics in Medicine
, 22
pp. 2114-2119.
10.1038/s41436-020-0924-0.
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Bourinaris, T;
Smedley, D;
Cipriani, V;
Sheikh, I;
Athanasiou-Fragkouli, A;
Chinnery, P;
Morris, H;
... Tucci, A; + view all
(2020)
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
European Journal of Human Genetics
, 28
pp. 1763-1768.
10.1038/s41431-020-00720-w.
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Bray, P;
Cornett, KMD;
Estilow, T;
Pareyson, D;
Zuccarino, R;
Skorupinska, M;
Pipis, M;
... Eichinger, KJ; + view all
(2020)
Reliability of the Charcot-Marie-Tooth functional outcome measure.
Journal of the Peripheral Nervous System
, 25
(3)
pp. 288-291.
10.1111/jns.12406.
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Brown, EE;
Blauwendraat, C;
Trinh, J;
Rizig, M;
Nalls, MA;
Leveille, E;
Ruskey, JA;
... International Parkinson Disease Genomics Consortium (IPDGC); + view all
(2020)
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease.
Neurobiology of Aging
10.1016/j.neurobiolaging.2020.07.002.
(In press).
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Brownstone, RM;
(2020)
Key steps in the evolution of mammalian movement: A prolegomenal essay.
Neuroscience
10.1016/j.neuroscience.2020.05.020.
(In press).
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Brunet, MA;
Jacques, J-F;
Nassari, S;
Tyzack, GE;
McGoldrick, P;
Zinman, L;
Jean, S;
... Roucou, X; + view all
(2020)
The FUS gene is dual-coding with both proteins contributing to FUS-mediated toxicity.
EMBO Reports
(2020)
, Article e50640. 10.15252/embr.202050640.
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Budzinska, MI;
Villarroel-Campos, D;
Golding, M;
Weston, A;
Collinson, L;
Snijders, AP;
Schiavo, G;
(2020)
PTPN23 binds the dynein adaptor BICD1 and is required for endocytic sorting of neurotrophin receptors.
Journal of Cell Science
, 133
(6)
, Article jcs242412. 10.1242/jcs.242412.
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Bugiardini, E;
Bottani, E;
Marchet, S;
Poole, OV;
Beninca, C;
Horga, A;
Woodward, C;
... Pitceathly, RDS; + view all
(2020)
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Neurology Genetics
, 6
(1)
, Article e381. 10.1212/nxg.0000000000000381.
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Capitanchik, C;
Toolan-Kerr, P;
Luscombe, NM;
Ule, J;
(2020)
How Do You Identify m⁶ A Methylation in Transcriptomes at High Resolution? A Comparison of Recent Datasets.
Frontiers in Genetics
, 11
, Article 398. 10.3389/fgene.2020.00398.
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Carandini, M;
Harris, KD;
Rossi, LF;
(2020)
Spatial connectivity matches direction selectivity in visual cortex.
Nature
, 588
pp. 648-652.
10.1038/s41586-020-2894-4.
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Carvalho, PD;
Ruyssen-Witrand, A;
Fonseca, J;
Marreiros, A;
Machado, PM;
(2020)
Determining factors related to impaired spinal and hip mobility in patients with axial spondyloarthritis: longitudinal results from the DESIR cohort.
RMD Open
, 6
(3)
, Article e001356. 10.1136/rmdopen-2020-001356.
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Cea, G;
Andreu, D;
Fletcher, E;
Ramdas, S;
Sud, R;
Hanna, MG;
Matthews, E;
(2020)
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 1; peer review: awaiting peer review].
Wellcome Open Research
, 5
p. 57.
10.12688/wellcomeopenres.15798.1.
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Cea, G;
Andreu, D;
Fletcher, E;
Ramdas, S;
Sud, R;
Hanna, MG;
Matthews, E;
(2020)
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved].
Wellcome Open Research
, 5
, Article 57. 10.12688/wellcomeopenres.15798.2.
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Chang, P;
Bush, D;
Schorge, S;
Good, M;
Canonica, T;
Shing, N;
Noy, S;
... Fisher, EMC; + view all
(2020)
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome.
Cell Reports
, 30
(4)
1152-1163.e4.
10.1016/j.celrep.2019.12.065.
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Chaudhry, A;
Anthanasiou-Fragkouli, A;
Houlden, H;
(2020)
DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.
Journal of Neurology
10.1007/s00415-020-10218-6.
(In press).
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Chaudhry, A;
Houlden, H;
Rizig, M;
(2020)
Novel fluid biomarkers to differentiate frontotemporal dementia and dementia with Lewy bodies from Alzheimer's disease: A systematic review.
Journal of the Neurological Sciences
, 415
, Article 116886. 10.1016/j.jns.2020.116886.
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Chelban, V;
Carecchio, M;
Rea, G;
Bowirrat, A;
Kirmani, S;
Magistrelli, L;
Efthymiou, S;
... Houlden, H; + view all
(2020)
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Neurology Genetics
, 6
(2)
, Article e399. 10.1212/NXG.0000000000000399.
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Chelban, V;
Catereniuc, D;
Aftene, D;
Gasnas, A;
Vichayanrat, E;
Iodice, V;
Groppa, S;
(2020)
An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention.
Journal of Neurology
10.1007/s00415-020-09881-6.
(In press).
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Chen, Z;
Ryten, M;
Houlden, H;
(2020)
Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease.
Annals of Clinical and Translational Neurology
, 7
(12)
pp. 2544-2545.
10.1002/acn3.51222.
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Chen, Z;
Yan Yau, W;
Jaunmuktane, Z;
Tucci, A;
Sivakumar, P;
Gagliano Taliun, SA;
Turner, C;
... Houlden, H; + view all
(2020)
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1716-1725.
10.1002/acn3.51151.
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Clarke, BE;
Patani, R;
(2020)
The microglial component of amyotrophic lateral sclerosis.
Brain
, 143
(12)
pp. 3526-3539.
10.1093/brain/awaa309.
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Clarke, BE;
Taha, DM;
Tyzack, GE;
Patani, R;
(2020)
Regionally encoded functional heterogeneity of astrocytes in health and disease: A perspective.
GLIA
10.1002/glia.23877.
(In press).
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Clarke, BE;
Taha, DM;
Ziff, OJ;
Alam, A;
Thelin, EP;
García, NM;
Helmy, A;
(2020)
Human stem cell-derived astrocytes exhibit region-specific heterogeneity in their secretory profiles.
Brain
10.1093/brain/awaa258.
(In press).
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Clemens, D;
Gray, B;
Bagnall, R;
Tester, D;
Dotzler, S;
Giudicessi, J;
Matthews, E;
... Ackerman, M; + view all
(2020)
Triadin Knockout Syndrome is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and is Extremely Rare in the General Population.
Circulation: Genomic and Precision Medicine
, 13
(2)
10.1161/CIRCGEN.119.002731.
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Coleman, JRI;
Gaspar, HA;
Bryois, J;
Bipolar Disorder Working Group of the Psychiatric Genomics Conso;
(2020)
The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.
Biological Psychiatry
, 88
(2)
pp. 169-184.
10.1016/j.biopsych.2019.10.015.
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Cornett, KMD;
Menezes, MP;
Bray, P;
Shy, RR;
Moroni, I;
Pagliano, E;
Pareyson, D;
... CMTPedS Study Group, .; + view all
(2020)
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1713-1715.
10.1002/acn3.51145.
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Cortese, A;
Callegari, I;
Currò, R;
Vegezzi, E;
Colnaghi, S;
Versino, M;
Alfonsi, E;
... Reilly, MM; + view all
(2020)
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-323719.
(In press).
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Cortese, A;
Lombardi, R;
Briani, C;
Callegari, I;
Benedetti, L;
Manganelli, F;
Luigetti, M;
... Franciotta, D; + view all
(2020)
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype.
Neurol Neuroimmunol Neuroinflamm
, 7
(1)
, Article e639. 10.1212/NXI.0000000000000639.
(In press).
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Cortese, A;
Lova, L;
Comoli, P;
Volpe, E;
Villa, S;
Mallucci, G;
La Salvia, S;
... Bergamaschi, R; + view all
(2020)
Air pollution as a contributor to the inflammatory activity of multiple sclerosis.
Journal of Neuroinflammation
, 17
(1)
, Article 334. 10.1186/s12974-020-01977-0.
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Cortese, A;
Tozza, S;
Yau, WY;
Rossi, S;
Beecroft, SJ;
Jaunmuktane, Z;
Dyer, Z;
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Brain
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The Journal of Physiology
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Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
Journal of Neurodevelopmental Disorders
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Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.
Annals of Neurology
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An Improved Protocol to Purify and Directly Mono-Biotinylate Recombinant BDNF in a Tube for Cellular Trafficking Studies in Neurons.
Journal of Visualized Experiments
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Guidelines on clinical presentation and management of non-dystrophic myotonias.
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Expert Opinion on Orphan Drugs
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Movement Disorders
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In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.
Clinical Neurophysiology
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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
The American Journal of Human Genetics (AJHG)
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DYNLRB1 is essential for dynein mediated transport and neuronal survival.
Neurobiology of Disease
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Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
The American Journal of Human Genetics
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Bone
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Research in Developmental Disabilities
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PINOT: An Intuitive Resource for Integrating Protein-Protein Interactions.
Cell Communication and Signaling
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Frontiers in Molecular Neuroscience
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PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Clinical Genetics
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Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.
Journal of Human Genetics
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Paraspeckle components NONO and PSPC1 are not mislocalized from motor neuron nuclei in sporadic ALS.
Brain
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Genome Biology
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White matter integrity correlates with cognition and disease severity in Fabry disease.
Brain
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Chronic pain is common in mitochondrial disease.
Neuromuscular Disorders
10.1016/j.nmd.2020.02.017.
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Van Rossen, L;
Chan, A;
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(2020)
Response to lower dose TNF inhibitors in axial spondyloarthritis; a real-world multicentre observational study.
Rheumatology Advances in Practice
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Neurological and neuropsychiatric complications of COVID-19 in 153 patients: a UK-wide surveillance study.
The Lancet Psychiatry
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Vera, G;
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
European Journal of Medical Genetics
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Vila Cuenca, M;
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Giorgetti, A;
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(2020)
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
International Journal of Molecular Sciences
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Parton, M;
Morrow, JM;
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Differential Diagnoses of Inclusion Body Myositis.
Neurologic Clinics
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Vivekanandam, V;
Mannikko, R;
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Improving genetic diagnostics of skeletal muscle channelopathies.
Expert Review of Molecular Diagnostics
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Vivekanandam, V;
Munot, P;
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Skeletal Muscle Channelopathies.
Neurologic Clinics
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Papadaki, A;
Coelewij, L;
Adriani, M;
Nytrova, P;
Kubala Havrdova, E;
Fogdell-Hahn, A;
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Using Serum Metabolomics to Predict Development of Anti-drug Antibodies in Multiple Sclerosis Patients Treated With IFNβ.
Frontiers In Immunology
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Wagner, M;
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Monteiro, F;
Maroofian, R;
Bierhals, T;
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(2020)
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Genetics in Medicine
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Talelli, P;
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Hoad, D;
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(2020)
Exploratory randomized double-blind placebo controlled trial of botulinum therapy on grasp release after Stroke (PrOMBiS).
Neurorehabilitation and Neural Repair
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10.1177/1545968319887682.
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Wang, Y;
Patani, R;
(2020)
Novel therapeutic targets for amyotrophic lateral sclerosis: ribonucleoproteins and cellular autonomy.
Expert Opinion on Therapeutic Targets
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10.1080/14728222.2020.1805734.
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Wang, H;
Davison, M;
Wang, K;
Xia, T-H;
Kramer, M;
Call, K;
Luo, J;
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(2020)
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Annals of Clinical and Translational Neurology
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pp. 69-82.
10.1002/acn3.50965.
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Wang, L;
Li, Z;
Sievert, D;
Smith, DEC;
Mendes, MI;
Chen, DY;
Stanley, V;
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(2020)
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nature Communications
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Werring, DJ;
Lynch, DS;
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Monogenic small vessel diseases — rare but still important.
Nature Reviews Neurology
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10.1038/s41582-020-0363-1.
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Willems, H;
De Cesco, S;
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Computational Chemistry on a Budget – Supporting Drug Discovery with Limited Resources.
Journal of Medicinal Chemistry
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10.1021/acs.jmedchem.9b02126.
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Williams, T;
Houlden, H;
Murphy, E;
John, N;
Fox, NC;
Schott, JM;
Adams, M;
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(2020)
How to diagnose difficult white matter disorders.
Practical Neurology
10.1136/practneurol-2020-002530.
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Woldegebriel, R;
Kvist, J;
Andersson, N;
Õunap, K;
Reinson, K;
Wojcik, MH;
Bijlsma, EK;
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(2020)
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Human Molecular Genetics
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10.1093/hmg/ddaa051.
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Wu, H;
Hariz, M;
Visser-Vandewalle, V;
Zrinzo, L;
Coenen, VA;
Sheth, SA;
Bervoets, C;
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(2020)
Deep brain stimulation for refractory obsessive-compulsive disorder (OCD): emerging or established therapy?
Molecular Psychiatry
10.1038/s41380-020-00933-x.
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Yau, WY;
O'Connor, E;
Chen, Z;
Vandrovcova, J;
Wood, NW;
Houlden, H;
(2020)
GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
Brain
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10.1093/brain/awaa144.
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Yau, WY;
Raposo, M;
Bettencourt, C;
Labrum, R;
Vasconcelos, J;
Parkinson, MH;
Giunti, P;
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(2020)
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Brain
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Yau, WY;
Sullivan, R;
Chen, Z;
Lynch, DS;
Vandrovcova, J;
Wood, NW;
Houlden, H;
(2020)
GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy.
Annals of Neurology
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10.1002/ana.25818.
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Yau, WY;
Vandrovcova, J;
Sullivan, R;
Chen, Z;
Zecchinelli, A;
Cilia, R;
Stefano, D;
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(2020)
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders.
Movement Disorders
10.1002/mds.28302.
(In press).
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Yildirim, MA;
Topkara, B;
Aydin, T;
Paker, N;
Soy, D;
Coskun, E;
Ones, K;
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(2020)
Exploring the receptor origin of vibration-induced reflexes.
Spinal Cord
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10.1038/s41393-020-0419-5.
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Yu, H;
López, RIH;
Steadman, D;
Méndez-Sánchez, D;
Higson, S;
Cázares-Körner, A;
Sheppard, TD;
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(2020)
Engineering transketolase to accept both unnatural donor and acceptor substrates and produce α‐hydroxyketones.
The FEBS Journal
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pp. 1758-1776.
10.1111/febs.15108.
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Zamanipoor Najafabadi, AH;
Khan, DZ;
Muskens, IS;
Broekman, MLD;
Dorward, NL;
van Furth, WR;
Marcus, HJ;
(2020)
Trends in cerebrospinal fluid leak rates following the extended endoscopic endonasal approach for anterior skull base meningioma: a meta-analysis over the last 20 years.
Acta Neurochirurgica
10.1007/s00701-020-04641-x.
(In press).
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Zambon, AA;
Pitt, M;
Laurà, M;
Polke, JM;
Reilly, MM;
Muntoni, F;
(2020)
A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Journal of the Peripheral Nervous System
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pp. 303-307.
10.1111/jns.12386.
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Zhang, J;
Sood, H;
Harrison, OT;
Horner, B;
Sharma, N;
Budhdeo, S;
(2020)
Interoperability in NHS hospitals must be improved: the Care Quality Commission should be a key actor in this process.
Journal of the Royal Society of Medicine
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(3)
pp. 101-104.
10.1177/0141076819894664.
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Ziff, OJ;
Samra, M;
Howard, JP;
Bromage, DI;
Ruschitzka, F;
Francis, DP;
Kotecha, D;
(2020)
Beta-blocker efficacy across different cardiovascular indications: an umbrella review and meta-analytic assessment.
BMC Medicine
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Zrinzo, L;
Akram, H;
Hariz, M;
(2020)
Letter to the Editor. ClearPoint versus frame-based MRI-guided and MRI-verified deep brain stimulation.
Journal of Neurosurgery
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pp. 1624-1626.
10.3171/2019.10.JNS192845.
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Book chapter
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Cannavo, C;
Tosh, J;
Fisher, EMC;
Wiseman, FK;
(2020)
Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21.
In: Dierssen, M, (ed.)
Progress in Brain Research.
(pp. 181-208).
Elsevier: London, UK.
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Working / discussion paper
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The International Brain Laboratory;
Aguillon-Rodriguez, V;
Angelaki, D;
Bayer, H;
Bonacchi, N;
Carandini, M;
Cazettes, F;
... Zador, A; + view all
(2020)
Standardized and reproducible measurement of decision-making in mice.
BioRxiv: Cold Spring Harbor, NY, USA.
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Varatharaj, A;
Thomas, N;
Ellul, M;
Davies, NWS;
Pollak, T;
Tenorio, EL;
Sultan, M;
... Michael, B; + view all
(2020)
UK-Wide Surveillance of Neurological and Neuropsychiatric Complications of COVID-19: The First 153 Patients.
SSRN: Amsterdam, Netherlands.
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Conference item
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Kleerekooper, I;
Leo, S;
Davagnanam, I;
Del Porto, L;
Guajardo, JM;
Dell'Arti, L;
Robson, A;
... Petzold, A; + view all
(2020)
A prognostically relevant functional-structural relationship in acute optic neuritis.
Presented at: 8th Joint ACTRIMS-ECTRIMS Meeting (MSVirtual), ELECTR NETWORK.
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Postges, H;
Jones, F;
Lee, L;
Holmes, S;
James, N;
Hanna, M;
Reilly, M;
(2020)
Neuro-muscular Bridges: Outcome of the development phase of a self-management programme for people with neuromuscular diseases.
Presented at: Virtual Conference of Peripheral-Nerve-Society, ELECTR NETWORK.
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Poster
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Estevez-Fraga, C;
Magrinelli, F;
Latorre, A;
Houlden, H;
Tabrizi, SJ;
Bhatia, K;
(2020)
Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene.
Presented at: MDS Virtual Congress 2020, Online conference.
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Thesis
|
Bugiardini, Enrico;
(2020)
Clinical and Genetic Characterization of Inherited Myopathies and Mitochondrial Diseases.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
Chelban, Viorica;
(2020)
Approaches to discovery of disease-genes and biomarkers in rare neurological disorders: from discovery to translation into therapeutic research advances and improved clinical care.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
Lee, Julie J;
(2020)
Task selectivity in mouse parietal cortex.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
Villarroel Campos, David;
(2020)
Regulation of intracellular traffic by TBK1 and its relevance to ALS.
Doctoral thesis (Ph.D), UCL (University College London).
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