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Number of items: 243.
A
Ahlfors, H;
Anyanwu, N;
Pakanavicius, E;
Dinischiotu, N;
Lana-Elola, E;
Watson-Scales, S;
Tosh, J;
... Tybulewicz, VLJ; + view all
(2019)
Gene expression dysregulation domains are not a specific feature of Down syndrome.
Nature Communications
, 10
(1)
, Article 2489. 10.1038/s41467-019-10129-9.
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Akcimen, F;
Vural, A;
Durmus, H;
Cakar, A;
Houlden, H;
Parman, YG;
Basak, AN;
(2019)
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.
Journal of Human Genetics
, 64
pp. 1141-1144.
10.1038/s10038-019-0652-y.
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Akram, H;
Hariz, M;
Zrinzo, L;
(2019)
Connectivity derived thalamic segmentation: Separating myth from reality.
NeuroImage: Clinical
, Article 101758. 10.1016/j.nicl.2019.101758.
(In press).
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Al Shareef, SM;
Basit, S;
Li, S;
Pfister, C;
Pradervand, S;
Lecendreux, M;
Mayer, G;
... Tafti, M; + view all
(2019)
Kleine-Levin syndrome is associated with LMOD3 variants.
Journal Of Sleep Research
, 28
(3)
, Article e12718. 10.1111/jsr.12718.
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Ambrosini, A;
Quinlivan, R;
Sansone, VA;
Meijer, I;
Schrijvers, G;
Tibben, A;
Padberg, G;
... Zittersteijn, A; + view all
(2019)
“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Orphanet Journal of Rare Diseases
, 14
, Article 126. 10.1186/s13023-019-1103-8.
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Anderhub, SJ;
Mak, GW-Y;
Gurden, MD;
Faisal, A;
Drosopoulos, K;
Walsh, K;
Woodward, HL;
... Linardopoulos, S; + view all
(2019)
High Proliferation Rate and a Compromised Spindle Assembly Checkpoint Confers Sensitivity to the MPS1 Inhibitor BOS172722 in Triple-Negative Breast Cancers.
Molecular Cancer Therapeutics
, 18
(10)
pp. 1696-1707.
10.1158/1535-7163.MCT-18-1203.
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Andres-Alonso, M;
Ammar, MR;
Butnaru, I;
Gomes, GM;
Sanhueza, GA;
Raman, R;
Yuanxiang, P;
... Kreutz, MR; + view all
(2019)
SIPA1L2 controls trafficking and local signaling of TrkB-containing amphisomes at presynaptic terminals.
Nature Communications
, 10
, Article 5448. 10.1038/s41467-019-13224-z.
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Asgarian, Z;
Magno, L;
Ktena, N;
Harris, KD;
Kessaris, N;
(2019)
Hippocampal CA1 Somatostatin Interneurons Originate in the Embryonic MGE/POA.
Stem Cell Reports
10.1016/j.stemcr.2019.09.008.
(In press).
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Atkinson, BN;
Steadman, D;
Mahy, W;
Zhao, Y;
Sipthorp, J;
Bayle, ED;
Svensson, F;
... Fish, PV; + view all
(2019)
Scaffold-hopping identifies furano[2,3-d]pyrimidine amides as potent Notum inhibitors.
Bioorganic & Medicinal Chemistry Letters
, Article 126751. 10.1016/j.bmcl.2019.126751.
(In press).
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Atkinson, BN;
Steadman, D;
Zhao, Y;
Sipthorp, J;
Vecchia, L;
Ruza, RR;
Jeganathan, F;
... Fish, PV; + view all
(2019)
Discovery of 2-phenoxyacetamides as inhibitors of the Wnt-depalmitoleating enzyme NOTUM from an X-ray fragment screen.
MedChemComm
10.1039/c9md00096h.
(In press).
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Attig, J;
Ule, J;
(2019)
Genomic Accumulation of Retrotransposons Was Facilitated by Repressive RNA-Binding Proteins: A Hypothesis.
Bioessays
, Article e1800132. 10.1002/bies.201800132.
(In press).
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Avery, J;
Dowrick, T;
Witkowska-Wrobel, A;
Faulkner, M;
Aristovich, KY;
Holder, DS;
(2019)
Simultaneous EIT and EEG using frequency division multiplexing.
Physiological Measurement
, 40
(3)
, Article 034007. 10.1088/1361-6579/ab0bbc.
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B
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Bachmann, C;
Noreen, F;
Voermans, NC;
Schar, PL;
Vissing, J;
Fock, JM;
Bulk, S;
... Treves, S; + view all
(2019)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Human Mutation
, 40
(7)
pp. 962-974.
10.1002/humu.23745.
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Bajc Česnik, A;
Darovic, S;
Prpar Mihevc, S;
Štalekar, M;
Malnar, M;
Motaln, H;
Lee, Y-B;
... Rogelj, B; + view all
(2019)
Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies.
Journal of Cell Science
, 132
(5)
, Article 132: jcs224303. 10.1242/jcs.224303.
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Balint, B;
Charlesworth, G;
Stamelou, M;
Carr, L;
Mencacci, NE;
Wood, NW;
Bhatia, KP;
(2019)
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
European Journal of Neurology
10.1111/ene.13956.
(In press).
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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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Banerjee, G;
Adams, ME;
Jaunmuktane, Z;
Lammie, GA;
Turner, B;
Wani, M;
Sawhney, IMS;
... Werring, DJ; + view all
(2019)
Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.
Annals of Neurology
, 85
(2)
pp. 284-290.
10.1002/ana.25407.
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Belin, S;
Ornaghi, F;
Shackleford, GG;
Wang, J;
Scapin, C;
Lopez-Anido, C;
Silvestri, N;
... Wrabetz, L; + view all
(2019)
Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
Human Molecular Genetics
, 28
(8)
pp. 1260-1273.
10.1093/hmg/ddy420.
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Bell, S;
Rousseau, J;
Peng, H;
Aouabed, Z;
Priam, P;
Theroux, J-F;
Jefri, M;
... Campeau, PM; + view all
(2019)
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
The American Journal of Human Genetics
, 104
(5)
pp. 815-834.
10.1016/j.ajhg.2019.03.022.
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Betteridge, Z;
Tansley, S;
Shaddick, G;
Chinoy, H;
Cooper, RG;
New, RP;
Lilleker, JB;
... Winer, J; + view all
(2019)
Frequency, mutual exclusivity and clinical associations of myositis autoantibodies in a combined European cohort of idiopathic inflammatory myopathy patients.
Journal of Autoimmunity
, 101
pp. 48-55.
10.1016/j.jaut.2019.04.001.
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Billingsley, KJ;
Barbosa, IA;
Bandrés-Ciga, S;
Quinn, JP;
Bubb, VJ;
Deshpande, C;
Botia, JA;
... Koks, S; + view all
(2019)
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
npj Parkinson's Disease
, 5
, Article 8. 10.1038/s41531-019-0080-x.
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Bocchetta, M;
Iglesias, JE;
Chelban, V;
Jabbari, E;
Lamb, R;
Russell, LL;
Greaves, CV;
... Rohrer, JD; + view all
(2019)
Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes.
Journal of Movement Disorders
10.14802/jmd.19030.
(In press).
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Bonham, LW;
Steele, NZR;
Karch, CM;
Broce, I;
Geier, EG;
Wen, NL;
Momeni, P;
... International FTD-Genomics Consortium (IFGC), .; + view all
(2019)
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Scientific Reports
, 9
, Article 10854. 10.1038/s41598-019-46415-1.
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Bray, T;
Jones, A;
Bennett, A;
Conaghan, P;
Grainger, A;
Hodgson, R;
Hutchinson, C;
... Machado, P; + view all
(2019)
Recommendations for Acquisition and Interpretation of MRI of the Spine and Sacroiliac Joints in the Diagnosis of Axial Spondyloarthritis in the UK.
Rheumatology
, 58
(10)
pp. 1831-1838.
10.1093/rheumatology/kez173.
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Briese, M;
Haberman, N;
Sibley, CR;
Faraway, R;
Elser, AS;
Chakrabarti, AM;
Wang, Z;
... Ule, J; + view all
(2019)
A systems view of spliceosomal assembly and branchpoints with iCLIP.
Nature Structural and Molecular Biology
, 26
(10)
pp. 930-940.
10.1038/s41594-019-0300-4.
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Brittain, C;
McCarthy, A;
Irizarry, MC;
McDermott, D;
Biglan, K;
Hoglinger, GU;
Lorenzl, S;
... Gerpen, JV; + view all
(2019)
Severity dependent distribution of impairments in PSP and CBS: Interactive visualizations.
Parkinsonism & Related Disorders
, 60
pp. 138-145.
10.1016/j.parkreldis.2018.08.025.
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Bromage, DI;
Taferner, S;
He, Z;
Ziff, OJ;
Yellon, DM;
Davidson, SM;
(2019)
Stromal cell-derived factor-1α signals via the endothelium to protect the heart against ischaemia-reperfusion injury.
Journal of Molecular and Cellular Cardiology
, 128
pp. 187-197.
10.1016/j.yjmcc.2019.02.002.
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Budzinska, Marta Izabela;
(2019)
Investigating the mechanisms regulating retrograde transport and signalling of neurotrophin receptors in neuronal cells.
Doctoral thesis (Ph.D), UCL (University College London).
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Bugai, A;
Quaresma, AJC;
Friedel, CC;
Lenasi, T;
Düster, R;
Sibley, CR;
Fujinaga, K;
... Barborič, M; + view all
(2019)
P-TEFb Activation by RBM7 Shapes a Pro-survival Transcriptional Response to Genotoxic Stress.
Molecular Cell
, 74
10.1016/j.molcel.2019.01.033.
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Bugiardini, E;
Khan, A;
Phadke, R;
Lynch, DS;
Cortese, A;
Feng, L;
Gang, Q;
... Hanna, MG; + view all
(2019)
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Neuromuscular Disorders
, 29
(10)
pp. 747-757.
10.1016/j.nmd.2019.08.003.
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Bugiardini, E;
Pope, S;
Feichtinger, RG;
Poole, OV;
Pittman, AM;
Woodward, CE;
Heales, S;
... Pitceathly, RDS; + view all
(2019)
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
Journal Of Clinical Medicine
, 8
(7)
, Article 991. 10.3390/jcm8070991.
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C
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Calautti, C;
Jones, PS;
Naccarato, M;
Sharma, N;
Carpenter, TA;
Warburton, EA;
Baron, J-C;
(2019)
Further evidence for a non-cortical origin of mirror movements after stroke.
[Letter].
Brain
, 142
(1)
e1-e1.
10.1093/brain/awy308.
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Cappon, D;
Beigi, M;
Kefalopoulou, Z;
Zrinzo, L;
Candelario, J;
Milabo, C;
Akram, H;
... Jahanshahi, M; + view all
(2019)
Globus pallidal deep brain stimulation for Tourette syndrome: Effects on cognitive function.
Parkinsonism & Related Disorders
, 69
pp. 14-18.
10.1016/j.parkreldis.2019.10.013.
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Carr, AS;
Shah, S;
Choi, D;
Blake, J;
Phadke, R;
Gilbertson, J;
Whelan, CJ;
... Reilly, MM; + view all
(2019)
Spinal Stenosis in Familial Transthyretin Amyloidosis.
Journal of Neuromuscular Diseases
10.3233/JND-180348.
(In press).
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Carvalho, PD;
Ferreira, RJO;
Landewé, R;
Vega-Morales, D;
Salomon-Escoto, K;
Veale, DJ;
Chopra, A;
... Machado, PM; + view all
(2019)
Association of seventeen definitions of remission with functional status in a large clinical practice cohort of patients with rheumatoid arthritis.
The Journal of Rheumatology
, 46
(5)
10.3899/jrheum.181286.
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Carvalho, PD;
Machado, PM;
(2019)
How to investigate: Early axial spondyloarthritis.
Best Practice & Research Clinical Rheumatology
, 33
(4)
, Article 101427. 10.1016/j.berh.2019.07.001.
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Castelo-Szekely, V;
De Matos, M;
Tusup, M;
Pascolo, S;
Ule, J;
Gatfield, D;
(2019)
Charting DENR-dependent translation reinitiation uncovers predictive uORF features and links to circadian timekeeping via Clock.
Nucleic Acids Research
, 47
(10)
pp. 5193-5209.
10.1093/nar/gkz261.
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Chan, E;
Garritsen, E;
Altendorff, S;
Turner, D;
Simister, R;
Werring, DJ;
Cipolotti, L;
(2019)
Additional Queen Square (QS) screening items improve the test accuracy of the Montreal Cognitive Assessment (MoCA) after acute stroke.
Journal of the Neurological Sciences
, 407
, Article 116442. 10.1016/j.jns.2019.116442.
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Chelban, V;
Alsagob, M;
Kloth, K;
Chirita-Emandi, A;
Vandrovcova, J;
Maroofian, R;
Davagnanam, I;
... Kaya, N; + view all
(2019)
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
European Journal of Neurology
10.1111/ene.14082.
(In press).
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Chelban, V;
Bocchetta, M;
Hassanein, S;
Haridy, NA;
Houlden, H;
Rohrer, JD;
(2019)
An update on advances in magnetic resonance imaging of multiple system atrophy.
Journal of Neurology
, 266
(4)
pp. 1036-1045.
10.1007/s00415-018-9121-3.
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Chelban, V;
Wilson, MP;
Warman Chardon, J;
Vandrovcova, J;
Zanetti, MN;
Zamba-Papanicolaou, E;
Efthymiou, S;
... SYNaPS Study Group, .; + view all
(2019)
PDXK mutations cause polyneuropathy responsive to PLP supplementation.
Annals of Neurology
10.1002/ana.25524.
(In press).
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Chen, Y;
Dolt, KS;
Kriek, M;
Baker, T;
Downey, P;
Drummond, NJ;
Canham, MA;
... Kunath, T; + view all
(2019)
Engineering synucleinopathy‐resistant human dopaminergic neurons by CRISPR‐mediated deletion of the SNCA gene.
European Journal of Neuroscience
, 49
(4)
pp. 510-524.
10.1111/ejn.14286.
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Chen, Z;
Houlden, H;
Puzriakova, A;
(2019)
Spinocerebellar Ataxia Type 11.
GeneReviews
(In press).
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Chopek, JW;
Hultborn, H;
Brownstone, RM;
(2019)
Multistable properties of human subthalamic nucleus neurons in Parkinson's disease.
Proceedings of the National Academy of Sciences (PNAS)
, 116
(48)
pp. 24326-24333.
10.1073/pnas.1912128116.
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Christopher, E;
Poon, MTC;
Glancz, LJ;
Hutchinson, PJ;
Kolias, AG;
Brennan, PM;
Afshari, FT;
... Zaben, M; + view all
(2019)
Outcomes following surgery in subgroups of comatose and very elderly patients with chronic subdural hematoma.
Neurosurgical Review
, 42
(2)
427`-431.
10.1007/s10143-018-0979-4.
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Ciccarelli, O;
Cohen, JA;
Reingold, SC;
Weinshenker, G;
(2019)
Spinal cord involvement in multiple sclerosis and neuromyelitis optica spectrum disorders.
Lancet Neurology
, 18
(2)
pp. 185-197.
10.1016/S1474-4422(18)30460-5.
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Clarke, Benjamin;
(2019)
Investigating stress responses in models of Amyotrophic Lateral Sclerosis.
Doctoral thesis (Ph.D), UCL (University College London).
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Clarke, BE;
Gil, RS;
Yip, J;
Kalmar, B;
Greensmith, L;
(2019)
Regional differences in the inflammatory and heat shock response in glia: implications for ALS.
Cell Stress Chaperones
10.1007/s12192-019-01005-y.
(In press).
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Clout, AE;
Della Pasqua, O;
Hanna, MG;
Orlu, M;
Pitceathly, RDS;
(2019)
Drug repurposing in neurological diseases: an integrated approach to reduce trial and error.
Journal of Neurology, Neurosurgery and Psychiatry
, 90
(11)
pp. 1270-1275.
10.1136/jnnp-2019-320879.
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Coenen, VA;
Schlaepfer, TE;
Varkuti, B;
Schuurman, PR;
Reinacher, PC;
Voges, J;
Zrinzo, L;
... Hariz, M; + view all
(2019)
Surgical decision making for deep brain stimulation should not be based on aggregated normative data mining.
Brain Stimulation
10.1016/j.brs.2019.07.014.
(In press).
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Coleman, JRI;
Bryois, J;
Gaspar, HA;
Jansen, PR;
Savage, JE;
Skene, N;
Plomin, R;
... Breen, G; + view all
(2019)
Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.
Molecular Psychiatry
, 24
pp. 182-197.
10.1038/s41380-018-0040-6.
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Cortese, A;
Simone, R;
Sullivan, R;
Vandrovcova, J;
Tariq, H;
Yan, YW;
Humphrey, J;
... Houlden, H; + view all
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nature Genetics
, 51
(4)
pp. 649-658.
10.1038/s41588-019-0372-4.
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Cortese, A;
Wilcox, JE;
Polke, JM;
Poh, R;
Skorupinska, M;
Rossor, AM;
Laura, M;
... Reilly, MM; + view all
(2019)
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology
10.1212/WNL.0000000000008672.
(In press).
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Craven, CL;
Chapman, MD;
D'Antona, L;
Thompson, SD;
Lakdawala, N;
Zetterberg, H;
Watkins, LD;
(2019)
Lumbar drains can affect CSF biomarker levels.
[Letter].
Journal of Clinical Pathology
, 72
(1)
pp. 91-92.
10.1136/jclinpath-2018-205296.
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Crerar, H;
Scott-Solomon, E;
Bodkin-Clarke, C;
Andreassi, C;
Hazbon, M;
Logie, E;
Cano-Jaimez, M;
... Riccio, A; + view all
(2019)
Regulation of NGF Signaling by an Axonal Untranslated mRNA.
Neuron
10.1016/j.neuron.2019.02.011.
(In press).
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D
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D'Antona, L;
Matharu, M;
(2019)
Identifying and managing refractory migraine: barriers and opportunities?
The Journal of Headache and Pain
, 20
, Article 89. 10.1186/s10194-019-1040-x.
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D’Antona, L;
McHugh, JA;
Ricciardi, F;
Thorne, LW;
Matharu, MS;
Watkins, LD;
Toma, AK;
(2019)
Association of Intracranial Pressure and Spontaneous Retinal Venous Pulsation.
JAMA Neurology
10.1001/jamaneurol.2019.2935.
(In press).
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David, G;
Mohammadi, S;
Martin, AR;
Cohen-Adad, J;
Weiskopf, N;
Thompson, A;
Freund, P;
(2019)
Traumatic and nontraumatic spinal cord injury: pathological insights from neuroimaging.
Nature Reviews Neurology
, 15
pp. 718-731.
10.1038/s41582-019-0270-5.
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David, G;
Seif, M;
Huber, E;
Hupp, M;
Rosner, J;
Dietz, V;
Weiskopf, N;
... Freund, P; + view all
(2019)
In vivo evidence of remote neural degeneration in the lumbar enlargement after cervical injury.
Neurology
, 92
(12)
e1367-e1377.
10.1212/WNL.0000000000007137.
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Dayal, V;
Grover, T;
Tripoliti, E;
Milabo, C;
Salazar, M;
Candelario-McKeown, J;
Athauda, D;
... Foltynie, T; + view all
(2019)
Short Versus Conventional Pulse-Width Deep Brain Stimulation in Parkinson's Disease: A Randomized Crossover Comparison.
Movement Disorders
10.1002/mds.27863.
(In press).
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De Giorgio, F;
Maduro, C;
Fisher, EMC;
Acevedo-Arozena, A;
(2019)
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis.
Disease Models & Mechanisms
, 12
(1)
, Article dmm037424. 10.1242/dmm.037424.
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de Paiva, ARB;
Lynch, DS;
Melo, US;
Lucato, LT;
Freua, F;
de Assis, BDR;
Barcelos, I;
... Kok, F; + view all
(2019)
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
Neurology Genetics
, 5
(1)
, Article e306. 10.1212/NXG.0000000000000306.
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Dias, CM;
Punetha, J;
Zheng, C;
Mazaheri, N;
Rad, A;
Efthymiou, S;
Petersen, A;
... Maroofian, R; + view all
(2019)
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
American Journal of Human Genetics
, 105
(5)
pp. 1048-1056.
10.1016/j.ajhg.2019.09.025.
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Doneddu, PE;
Cocito, D;
Manganelli, F;
Fazio, R;
Briani, C;
Filosto, M;
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