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Number of items: 331.
Article
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Abramzon, Y;
Dewan, R;
Cortese, A;
Resnick, S;
Ferrucci, L;
Houlden, H;
Traynor, BJ;
(2021)
Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis.
Journal of the Neurological Sciences
, 430
, Article 118061. 10.1016/j.jns.2021.118061.
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Abrol, E;
Coutinho, E;
Chou, M;
Hart, M;
Vincent, A;
Howard, R;
Zandi, MS;
(2021)
Psychosis in systemic lupus erythematosus (SLE): 40-year experience of a specialist centre.
Rheumatology
, 60
(12)
pp. 5620-5629.
10.1093/rheumatology/keab160.
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Adams, D;
Polydefkis, M;
González-Duarte, A;
Wixner, J;
Kristen, AV;
Schmidt, HH;
Berk, JL;
... patisiran Global OLE study group; + view all
(2021)
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
The Lancet Neurology
, 20
(1)
pp. 49-59.
10.1016/S1474-4422(20)30368-9.
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Aghaizu, ND;
Warre-Cornish, KM;
Robinson, MR;
Ali, RR;
Pearson, RA;
(2021)
Tracking neuronal motility in live murine retinal explants.
STAR Protocols
, 2
(4)
, Article 101008. 10.1016/j.xpro.2021.101008.
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Aghaizu, ND;
Warre-Cornish, KM;
Robinson, MR;
Waldron, PV;
Maswood, RN;
Smith, AJ;
Ali, RR;
(2021)
Repeated nuclear translocations underlie photoreceptor positioning and lamination of the outer nuclear layer in the mammalian retina.
Cell Reports
, 36
(5)
, Article 109461. 10.1016/j.celrep.2021.109461.
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Agostini, F;
Zagalak, J;
Attig, J;
Ule, J;
Luscombe, NM;
(2021)
Intergenic RNA mainly derives from nascent transcripts of known genes.
Genome Biology
, 22
(1)
, Article 136. 10.1186/s13059-021-02350-x.
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Almarzouki, A;
Wilson, D;
Ambler, G;
Shakeshaft, C;
Cohen, H;
Yousry, T;
Al-Shahi Salman, R;
... Werring, DJ; + view all
(2021)
Publisher Correction: Sensitivity and specificity of blood-fluid levels for oral anticoagulant-associated intracerebral haemorrhage.
Scientific Reports
, 11
(1)
, Article 9485. 10.1038/s41598-021-88890-5.
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Alunno, A;
Najm, A;
Machado, PM;
Bertheussen, H;
Burmester, GR;
Carubbi, F;
De Marco, G;
... Mariette, X; + view all
(2021)
EULAR points to consider on pathophysiology and use of immunomodulatory therapies in COVID-19.
Annals of the Rheumatic Diseases
, 80
, Article 6. 10.1136/annrheumdis-2020-219724.
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Alunno, A;
Najm, A;
Mariette, X;
De Marco, G;
Emmel, J;
Mason, L;
McGonagle, DG;
(2021)
Immunomodulatory therapies for the treatment of SARS-CoV-2 infection: an update of the systematic literature review to inform EULAR points to consider.
RMD Open
, 7
(3)
, Article e001899. 10.1136/rmdopen-2021-001899.
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Alunno, A;
Rivellese, F;
Lauper, K;
Aletaha, D;
Buch, MH;
Gossec, L;
Mandl, P;
... Sepriano, A; + view all
(2021)
EMerging EULAR NETwork (EMEUNET): a remarkable foundation for the future.
RMD Open
, 7
(3)
, Article e001962. 10.1136/rmdopen-2021-001962.
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Alunno, A;
Najm, A;
Mariette, X;
De Marco, G;
Emmel, J;
Mason, L;
McGonagle, DG;
(2021)
Immunomodulatory therapies for SARS-CoV-2 infection: a systematic literature review to inform EULAR points to consider.
Annals of the Rheumatic Diseases
10.1136/annrheumdis-2020-219725.
(In press).
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Amato, AA;
Hanna, MG;
Machado, PM;
Badrising, UA;
Chinoy, H;
Benveniste, O;
Karanam, AK;
... RESILIENT Study Extension Group; + view all
(2021)
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT.
Neurology
, 96
(12)
e1595-e1607.
10.1212/WNL.0000000000011626.
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Andlauer, TFM;
Guzman-Parra, J;
Streit, F;
Strohmaier, J;
González, MJ;
Gil Flores, S;
Cabaleiro Fabeiro, FJ;
... Rietschel, M; + view all
(2021)
Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.
Molecular Psychiatry
, 26
pp. 1286-1298.
10.1038/s41380-019-0558-2.
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Andreassi, C;
Luisier, R;
Crerar, H;
Darsinou, M;
Blokzijl-Franke, S;
Lenn, T;
Luscombe, NM;
... Riccio, A; + view all
(2021)
Cytoplasmic cleavage of IMPA1 3' UTR is necessary for maintaining axon integrity.
Cell Reports
, 34
(8)
, Article 108778. 10.1016/j.celrep.2021.108778.
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Appelhof, B;
Wagner, M;
Hoefele, J;
Heinze, A;
Roser, T;
Koch-Hogrebe, M;
Roosendaal, SD;
... Jamra, RA; + view all
(2021)
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
European Journal of Human Genetics
, 29-30
pp. 411-421.
10.1038/s41431-020-00749-x.
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Au, L;
Hatipoglu, E;
Robert de Massy, M;
Litchfield, K;
Beattie, G;
Rowan, A;
Schnidrig, D;
... TRACERx Renal Consortium; + view all
(2021)
Determinants of anti-PD-1 response and resistance in clear cell renal cell carcinoma.
Cancer Cell
, 39
pp. 1497-1518.
10.1016/j.ccell.2021.10.001.
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Averdunk, L;
Sticht, H;
Surowy, H;
Lüdecke, HJ;
Koch-Hogrebe, M;
Alsaif, HS;
Kahrizi, K;
... Wieczorek, D; + view all
(2021)
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Journal of Molecular Medicine
10.1007/s00109-021-02124-9.
(In press).
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Bahena, P;
Daftarian, N;
Maroofian, R;
Linares, P;
Villalobos, D;
Mirrahimi, M;
Rad, A;
... Haaf, T; + view all
(2021)
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Human Genetics
10.1007/s00439-021-02303-1.
(In press).
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Baldelli, L;
Schade, S;
Jesús, S;
Schreglmann, SR;
Sambati, L;
Gómez-Garre, P;
Halsband, C;
... Provini, F; + view all
(2021)
Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients.
npj Parkinson's Disease
, 7
, Article 78. 10.1038/s41531-021-00219-1.
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Bampton, A;
Gatt, A;
Humphrey, J;
Cappelli, S;
Bhattacharya, D;
Foti, S;
Brown, A-L;
... Lashley, T; + view all
(2021)
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.
Acta Neuropathologica
10.1007/s00401-021-02340-0.
(In press).
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Bandyopadhyay, S;
Khan, DZ;
Marcus, HJ;
Schroeder, BE;
Patel, V;
O’Donnell, A;
Ahmed, S;
... Youssef, M; + view all
(2021)
CSF Rhinorrhea After Endonasal Intervention to the Skull Base (CRANIAL) — Part 2: Impact of COVID-19.
World Neurosurgery
, 149
e1090-e1097.
10.1016/j.wneu.2020.12.169.
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Baty, K;
Farrugia, ME;
Hopton, S;
Falkous, G;
Schaefer, AM;
Stewart, W;
Willison, HJ;
... Ng, YS; + view all
(2021)
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.
Neuromuscular Disorders
, 31
(11)
pp. 1186-1193.
10.1016/j.nmd.2021.05.014.
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Bayle, ED;
Svensson, F;
Atkinson, BN;
Steadman, D;
Willis, NJ;
Woodward, HL;
Whiting, P;
... Fish, PV; + view all
(2021)
Carboxylesterase Notum Is a Druggable Target to Modulate Wnt Signaling.
Journal of Medicinal Chemistry
, 64
(8)
pp. 4289-4311.
10.1021/acs.jmedchem.0c01974.
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Benjamin, LA;
Paterson, RW;
Moll, R;
Pericleous, C;
Brown, R;
Mehta, PR;
Athauda, D;
... Efthymiou, M; + view all
(2021)
Antiphospholipid antibodies and neurological manifestations in acute COVID-19: A single-centre cross-sectional study.
EClinicalMedicine
, Article 101070. 10.1016/j.eclinm.2021.101070.
(In press).
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Bertrand, HGMJ;
Middleton, JA;
Baker, SN;
Glover, I;
Flecknell, PA;
(2021)
Influence of alphaxalone on motor somatosensory evoked potentials in a female rhesus macaque (Macaca mulatta).
Laboratory Animals
10.1177/0023677221990706.
(In press).
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Best, JG;
Ambler, G;
Wilson, D;
Lee, K-J;
Lim, J-S;
Shiozawa, M;
Koga, M;
... Werring, DJ; + view all
(2021)
Development of imaging-based risk scores for prediction of intracranial haemorrhage and ischaemic stroke in patients taking antithrombotic therapy after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies.
The Lancet Neurology
, 20
(4)
pp. 294-303.
10.1016/S1474-4422(21)00024-7.
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Bibi, F;
Ullah, A;
Bourinaris, T;
Efthymiou, S;
Kriouile, Y;
Sultan, T;
Haider, S;
... Kaukab Raja, G; + view all
(2021)
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klinische Pädiatrie
, 233
(5)
pp. 226-230.
10.1055/a-1371-1561.
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Bindoff, LA;
Brown, DA;
Gorman, GS;
Karaa, A;
Keshavan, N;
Lamperti, C;
Mancuso, M;
... De Vries, MC; + view all
(2021)
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
Journal of Inherited Metabolic Disease
, 44
(1)
pp. 6-7.
10.1002/jimd.12329.
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Birsa, N;
Ule, AM;
Garone, MG;
Tsang, B;
Mattedi, F;
Chong, PA;
Humphrey, J;
... Fratta, P; + view all
(2021)
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Science Advances
, 7
(30)
, Article eabf8660. 10.1126/sciadv.abf8660.
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Blackstone, C;
Elwood, F;
Plun-Favreau, H;
Lewis, PA;
(2021)
Vesicle trafficking and pathways to neurodegeneration.
Molecular Neurodegeneration
, 16
(1)
, Article 56. 10.1186/s13024-021-00480-1.
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Blauwendraat, C;
Iwaki, H;
Makarious, MB;
Bandres-Ciga, S;
Leonard, H;
Grenn, FP;
Lake, J;
... Lynch, TL; + view all
(2021)
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Annals of Neurology
, 90
(1)
pp. 35-42.
10.1002/ana.26090.
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Borg, A;
Hill, CS;
Nurboja, B;
Critchley, G;
Choi, D;
(2021)
A randomized controlled trial of the X-Stop interspinous distractor device versus laminectomy for lumbar spinal stenosis with 2-year quality-of-life and cost-effectiveness outcomes.
Journal of Neurosurgery
, 34
(4)
pp. 544-552.
10.3171/2020.7.SPINE20880.
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Bosch, P;
Carubbi, F;
Scirè, CA;
Baraliakos, X;
Falzon, L;
Dejaco, C;
Machado, PM;
(2021)
Value of imaging to guide interventional procedures in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
RMD Open
, 7
(3)
, Article e001864. 10.1136/rmdopen-2021-001864.
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Bourinaris, T;
Athanasiou, A;
Efthymiou, S;
Wiethoff, S;
Salpietro, V;
Houlden, H;
(2021)
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.
European Journal of Human Genetics
10.1038/s41431-021-00866-1.
(In press).
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Breza, M;
Hirst, J;
Chelban, V;
Banneau, G;
Tissier, L;
Kol, B;
Bourinaris, T;
... Stevanin, G; + view all
(2021)
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease.
Movement Disorders
, 36
(4)
pp. 1034-1038.
10.1002/mds.28487.
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Bugeon, Stephane;
Haubold, Clara;
Ryzynski, Alexandre;
Cremer, Harold;
Platel, Jean-Claude;
(2021)
Intrinsic Neuronal Activity during Migration Controls the Recruitment of Specific Interneuron Subtypes in the Postnatal Mouse Olfactory Bulb.
The Journal of Neuroscience
, 41
(12)
pp. 2610-2644.
10.1523/JNEUROSCI.1960-20.2021.
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Burchill, E;
Lymberopoulos, E;
Menozzi, E;
Budhdeo, S;
McIlroy, JR;
Macnaughtan, J;
Sharma, N;
(2021)
The Unique Impact of COVID-19 on Human Gut Microbiome Research.
Frontiers in Medicine
, 8
, Article 652464. 10.3389/fmed.2021.652464.
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Caetano, AP;
Mascarenhas, VV;
Machado, PM;
(2021)
Axial Spondyloarthritis: Mimics and Pitfalls of Imaging Assessment.
Frontiers in Medicine
, 8
, Article 658538. 10.3389/fmed.2021.658538.
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Carandini, M;
Steinmetz, N;
Cagatay, A;
Lebedeva, A;
Okun, M;
Pachitariu, M;
Dudman, J;
... Harris, TD; + view all
(2021)
Neuropixels 2.0: A miniaturized high-density probe for stable, long-term brain recordings.
Science
, 372
(6539)
, Article eabf4588. 10.1126/science.abf4588.
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Carpenter, JC;
Männikkö, R;
Heffner, C;
Heneine, J;
Sampedro-Castañeda, M;
Lignani, G;
Schorge, S;
(2021)
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Epilepsia
10.1111/epi.16867.
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Carubbi, F;
Bosch, P;
Machado, PM;
Scire, CA;
Alunno, A;
Proft, F;
Baraliakos, X;
(2021)
Current Practice of Imaging-Guided Interventional Procedures in Rheumatic and Musculoskeletal Diseases: Results of a Multinational Multidisciplinary Survey.
Frontiers in Medicine
, 8
, Article 779975. 10.3389/fmed.2021.779975.
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Casto, C;
Dipasquale, V;
Ceravolo, I;
Gambadauro, A;
Aliberto, E;
Galletta, K;
Granata, F;
... Chimenz, R; + view all
(2021)
Prominent and regressive brain developmental disorders associated with nance-horan syndrome.
Brain Sciences
, 11
(9)
, Article 1150. 10.3390/brainsci11091150.
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Cechin, Laura;
Gasmelseed, Jihad;
Bashford, James;
Rowczenio, Dorota;
Reilly, Mary M;
Gillmore, Julian D;
Coutinho, Ester;
(2021)
Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis.
Neurology: Clinical Practice
, 11
(5)
e757-e759.
10.1212/CPJ.0000000000001054.
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Chakraborty, Kasturi;
Anees, Palapuravan;
Surana, Sunaina;
Martin, Simona;
Aburas, Jihad;
Moutel, Sandrine;
Perez, Franck;
... Krishnan, Yamuna; + view all
(2021)
Tissue-specific targeting of DNA nanodevices in a multicellular living organism.
eLife
, 10
, Article e67830. 10.7554/eLife.67830.
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Chan, YM;
Wong, Y;
Khalid, N;
Wastling, S;
Flores-Martin, A;
Frank, L-A;
Koohi N, N;
... Kaski, D; + view all
(2021)
Prevalence of acute dizziness and vertigo in cortical stroke.
European Journal of Neurology
, 28
(9)
pp. 3177-3181.
10.1111/ene.14964.
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Chandler, RJ;
Cogo, S;
Lewis, PA;
Kevei, E;
(2021)
Modelling the functional genomics of Parkinson’s disease in Caenorhabditis elegans: LRRK2 and beyond.
Bioscience Reports
, 41
(9)
, Article BSR20203672. 10.1042/bsr20203672.
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Chelban, V;
Breza, M;
Szaruga, M;
Vandrovcova, J;
Murphy, D;
Lee, C-J;
Alikhwan, S;
... Koutsis, G; + view all
(2021)
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
, 13
(1)
, Article e12186. 10.1002/dad2.12186.
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Chen, Qiao Yi;
Wen, Ting;
Wu, Peng;
Jia, Rui;
Zhang, Ronghua;
Dang, Jingxia;
(2021)
Exosomal Proteins and miRNAs as Mediators of Amyotrophic Lateral Sclerosis.
Frontiers in Cell and Developmental Biology
, 9
, Article 718803. 10.3389/fcell.2021.718803.
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Chen, Z;
Maroofian, R;
Başak, AN;
Shingavi, L;
Karakaya, M;
Efthymiou, S;
Gustavsson, EK;
... Sarraf, P; + view all
(2021)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European Journal of Neurology
, 28
(4)
pp. 1344-1355.
10.1111/ene.14649.
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Chen, Z;
Zhang, D;
Reynolds, RH;
Gustavsson, EK;
García-Ruiz, S;
D'Sa, K;
Fairbrother-Browne, A;
... Ryten, M; + view all
(2021)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature Communications
, 12
, Article 2076. 10.1038/s41467-021-22262-5.
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Chopek, JW;
Zhang, Y;
Brownstone, RM;
(2021)
Intrinsic brainstem circuits comprised of Chx10-expressing neurons contribute to reticulospinal output in mice.
Journal of Neurophysiology
, 126
(6)
pp. 1978-1990.
10.1152/jn.00322.2021.
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Chung, C-Y;
Singh, K;
Kotiadis, VN;
Valdebenito, GE;
Ahn, JH;
Topley, E;
Tan, J;
... Duchen, MR; + view all
(2021)
Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation.
Nature Communications
, 12
(1)
, Article 6409. 10.1038/s41467-021-26746-2.
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Clark, AJ;
Kugathasan, U;
Baskozos, G;
Priestman, DA;
Fugger, N;
Lone, MA;
Othman, A;
... Bennett, DL; + view all
(2021)
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions.
Cell Reports Medicine
, 2
(7)
, Article 10034. 10.1016/j.xcrm.2021.100345.
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Clayton, SA;
Daley, KK;
MacDonald, L;
Fernandez-Vizarra, E;
Bottegoni, G;
O'Neil, JD;
Major, T;
... Clark, AR; + view all
(2021)
Inflammation causes remodeling of mitochondrial cytochrome c oxidase mediated by the bifunctional gene C15orf48.
Science Advances
, 7
(50)
, Article eabl5182. 10.1126/sciadv.abl5182.
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Cleverley, K;
Lee, WC;
Mumford, P;
Collins, T;
Rickman, M;
Cunningham, TJ;
Cleak, J;
... Fisher, EMC; + view all
(2021)
A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits.
Mammalian Genome
10.1007/s00335-021-09864-6.
(In press).
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Collorone, S;
Kanber, B;
Hashem, L;
Cawley, N;
Prados, F;
Davagnanam, I;
Barkhof, F;
... Toosy, A; + view all
(2021)
Visual Function and Brief Cognitive Assessment for Multiple Sclerosis (BICAMS) in Optic Neuritis Clinically Isolated Syndrome Patients.
Journal of Neuro-Ophthalmology
, 42
(1)
e22-e31.
10.1097/WNO.0000000000001280.
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Conforti, FL;
Renton, AE;
Houlden, H;
(2021)
Editorial: Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Frontiers in Neuroscience
, 15
, Article 680185. 10.3389/fnins.2021.680185.
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Cortese, A;
Curro', R;
Vegezzi, E;
Yau, WY;
Houlden, H;
Reilly, MM;
(2021)
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Practical Neurology
10.1136/practneurol-2020-002822.
(In press).
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Cosentino, G;
Di Stefano, V;
Lo Presti, R;
Montana, M;
Todisco, M;
Gastaldi, M;
Cortese, A;
... Brighina, F; + view all
(2021)
Expression pattern of matrix metalloproteinases-2 and -9 and their tissue inhibitors in patients with chronic inflammatory demyelinating polyneuropathy.
Neurological Sciences
, 42
(10)
pp. 4297-4300.
10.1007/s10072-021-05314-y.
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Crow, Yanick J;
Marshall, Heather;
Rice, Gillian;
Seabra, Luis;
Jenkinson, Emma M;
Baranano, Kristin;
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Yap, ZY;
Efthymiou, S;
Seiffert, S;
Parra, KV;
Lee, S;
Nasca, A;
Maroofian, R;
... Yoon, WH; + view all
(2021)
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
American Journal of Human Genetics
, 108
(12)
pp. 2368-2384.
10.1016/j.ajhg.2021.11.003.
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Yau, WY;
Sullivan, R;
Rocca, C;
Cali, E;
Vandrovcova, J;
Wood, NW;
Houlden, H;
(2021)
NOTCH2NLC Intermediate-length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
[Letter].
Annals of Neurology
, 89
(3)
pp. 633-635.
10.1002/ana.26003.
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Yau, WY;
Chen, Z;
Sullivan, R;
Vandrovcova, J;
Houlden, H;
(2021)
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?
Annals of Clinical and Translational Neurology
, 8
(4)
pp. 1002-1004.
10.1002/acn3.51330.
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Yu, Y;
Payne, C;
Marina, N;
Korsak, A;
Southern, P;
Garcia-Prieto, A;
Christie, IN;
... Lythgoe, MF; + view all
(2021)
Remote and Selective Control of Astrocytes by Magnetomechanical Stimulation.
Advanced Science
, Article 2104194. 10.1002/advs.202104194.
(In press).
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Zahl, SM;
Mack, JA;
Rossant, C;
Squier, W;
Wester, K;
(2021)
Thrombosis is not a marker of bridging vein rupture in infants with alleged abusive head trauma.
Acta Paediatrica
10.1111/apa.15908.
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Zaki, MS;
Accogli, A;
Mirzaa, G;
Rahman, F;
Mohammed, H;
Porras-Hurtado, GL;
Efthymiou, S;
... Maroofian, R; + view all
(2021)
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
European Journal of Human Genetics
10.1038/s41431-021-00910-0.
(In press).
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Zatka-Haas, P;
Steinmetz, NA;
Carandini, M;
Harris, KD;
(2021)
Sensory coding and the causal impact of mouse cortex in a visual decision.
eLlife
, 10
, Article e63163. 10.7554/eLife.63163.
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Zhang, J;
Norinder, U;
Svensson, F;
(2021)
Deep Learning-Based Conformal Prediction of Toxicity.
Journal of Chemical Information and Modeling
, 61
(6)
pp. 2648-2657.
10.1021/acs.jcim.1c00208.
|
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Zhao, Y;
Jolly, S;
Benvegnu, S;
Jones, EY;
Fish, P;
(2021)
Small-molecule inhibitors of carboxylesterase Notum.
FUTURE MEDICINAL CHEMISTRY
, 13
(11)
10.4155/fmc-2021-0036.
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Zhao, Y;
Svensson, F;
Steadman, D;
Frew, S;
Monaghan, A;
Bictash, M;
Moreira, T;
... Jones, EY; + view all
(2021)
Structural Insights into Notum Covalent Inhibition.
Journal of Medicinal Chemistry
10.1021/acs.jmedchem.1c00701.
(In press).
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Ziegler, Alban;
Duclaux-Loras, Remi;
Revenu, Celine;
Charbit-Henrion, Fabienne;
Begue, Bernadette;
Duroure, Karine;
Grimaud, Linda;
... Parlato, Marianna; + view all
(2021)
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
American Journal of Human Genetics
, 108
(6)
pp. 1126-1137.
10.1016/j.ajhg.2021.04.020.
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Ziff, OJ;
Taha, DM;
Crerar, H;
Clarke, BE;
Chakrabarti, AM;
Kelly, G;
Neeves, J;
... Patani, R; + view all
(2021)
Reactive astrocytes in ALS display diminished intron retention.
Nucleic Acids Research
10.1093/nar/gkab115.
(In press).
|
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Zurek, B;
Ellwanger, K;
Vissers, LELM;
Schuele, R;
Synofzik, M;
Topf, A;
de Voer, RM;
... Graessner, H; + view all
(2021)
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
European Journal of Human Genetics
, 29
pp. 1325-1331.
10.1038/s41431-021-00859-0.
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Proceedings paper
|
Jiang, D;
Wu, Y;
Almarri, N;
Habibollahi, M;
Liu, F;
Bryson, JB;
Greensmith, L;
(2021)
An integrated bidirectional multi-channel opto-electro arbitrary waveform stimulator for treating motor neurone disease.
In:
2021 IEEE International Symposium on Circuits and Systems (ISCAS).
IEEE
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Working / discussion paper
|
Devkota, K;
Schapira, M;
Perveen, S;
Yazdi, AK;
Li, F;
Chau, I;
Ghiabi, P;
... Vedadi, M; + view all
(2021)
Probing the SAM Binding Site of SARS-CoV-2 nsp14 in vitro Using SAM Competitive Inhibitors Guides Developing Selective bi-substrate Inhibitors.
BioRxiv: Cold Spring Harbor, NY, USA.
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Conference item
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Pizzamiglio, C;
Mahroo, O;
Khan, K;
Patasin, M;
Quinlivan, R;
(2021)
Natural history of McArdle disease: a single centre study of a cohort of 220 patients.
Presented at: 26th International Congress of the World Muscle Society, Online conference.
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Poster
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Tosolini, Andrew P;
Sleigh, James N;
Surana, Sunaina;
Rhymes, Elena R;
Cahalan, Stephen D;
Schiavo, Giampietro;
(2021)
BDNF-regulation of in vivo axonal transport is selectively impaired in fast motor neurons in SOD1ᴳ⁹³ᴬ mice.
Presented at: EMBO Workshop: Axons 2021: Structure and function, Virtual conference.
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Thesis
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Devine, Helen Elizabeth;
(2021)
Modelling spinal bulbar muscular atrophy using human stem cells and mice.
Doctoral thesis (Ph.D), UCL (University College London).
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Efthymiou, Stephanie;
(2021)
Dissecting the genetic basis of neurodevelopmental disorders and demyelinating neuropathies.
Doctoral thesis (Ph.D), UCL (University College London).
|
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Harley, Jasmine;
(2021)
Examining Responses of RNA Binding Proteins to ALS and Stress in Human Motor Neurons.
Doctoral thesis (Ph.D), UCL (University College London).
|
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Mitchell, Jamie Samuel;
(2021)
Investigating directed differentiation strategies in hiPSCs to model cell type-specific vulnerability in ALS.
Doctoral thesis (Ph.D), UCL (University College London).
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Toolan-Kerr, Patrick;
(2021)
The regulation of PARP proteins by the m⁶A methyltransferase machinery.
Doctoral thesis (Ph.D), UCL (University College London).
|
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Vargas, Jose Norberto (Jobert) Sagullo;
(2021)
Spatiotemporal Control of ULK1 by NDP52 and TBK1 during selective autophagy.
Doctoral thesis (Ph.D), UCL (University College London).
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Zafeiropoulos, Nikolaos;
(2021)
Multi-component MRI transverse-relaxation parameter estimation to detect and monitor neuromuscular disease.
Doctoral thesis (Ph.D), UCL (University College London).
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