Browse by UCL people
Group by: Type | Date
Number of items: 179.
2024
Chelban, Viorica;
Aksnes, Henriette;
Maroofian, Reza;
LaMonica, Lauren C;
Seabra, Luis;
Siggervåg, Anette;
Devic, Perrine;
... Houlden, Henry; + view all
(2024)
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nature Communications
, 15
, Article 2269. 10.1038/s41467-024-46354-0.
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2023
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Almramhi, Mona M;
Finan, Chris;
Storm, Catherine S;
Schmidt, Amand F;
Kia, Demis A;
Coneys, Rachel Rachel;
Chopade, Sandesh;
... Wood, Nick W; + view all
(2023)
Exploring the Role of Plasma Lipids and Statins Interventions on Multiple Sclerosis Risk and Severity: A Mendelian Randomization Study.
Neurology
10.1212/WNL.0000000000207777.
(In press).
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Schreglmann, Sebastian R;
Goncalves, Tomas;
Grant-Peters, Melissa;
Kia, Demis A;
Soreq, Lilach;
Ryten, Mina;
Wood, Nicholas W;
... Tomita, Kazunori; + view all
(2023)
Age-related telomere attrition in the human putamen.
Aging Cell
, Article e13861. 10.1111/acel.13861.
(In press).
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Tamborska, AA;
Wood, GK;
Westenberg, E;
Garcia-Azorin, D;
Webb, G;
Schiess, N;
Netravathi, M;
... Michael, BD; + view all
(2023)
Global uncertainty in the diagnosis of neurological complications of SARS-CoV-2 infection by both neurologists and non-neurologists: An international inter-observer variability study.
Journal of the Neurological Sciences
, 449
, Article 120646. 10.1016/j.jns.2023.120646.
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2022
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Almramhi, Mona M;
Storm, Catherine S;
Kia, Demis A;
Coneys, Rachel;
Chhatwal, Burleen K;
Wood, Nicholas W;
(2022)
The role of body fat in multiple sclerosis susceptibility and severity: A Mendelian randomisation study.
Multiple Sclerosis Journal
10.1177/13524585221092644.
(In press).
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Park, Joohyun;
Tucci, Arianna;
Cipriani, Valentina;
Demidov, German;
Rocca, Clarissa;
Senderek, Jan;
Butryn, Michaela;
... Hengel, Holger; + view all
(2022)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genetics in Medicine
, 24
(10)
pp. 2079-2090.
10.1016/j.gim.2022.07.006.
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Schreglmann, Sebastian R;
Burke, Derek;
Batla, Amit;
Kresojevic, Nikola;
Wood, Nicholas;
Heales, Simon;
Bhatia, Kailash P;
(2022)
Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.
Movement Disorders
, 37
(4)
, Article e28937. 10.1002/mds.28937.
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2021
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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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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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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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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, 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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Coneys, R;
Storm, CS;
Kia, DA;
Almramhi, M;
Wood, NW;
(2021)
Mendelian Randomisation Finds No Causal Association between Urate and Parkinson's Disease Progression.
Movement Disorders
10.1002/mds.28662.
(In press).
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Gan-Or, Z;
Wood, NW;
(2021)
Mendelian Randomization Studies: A Path to Better Understand Sex and Gender Differences in Parkinson's Disease?
Movement Disorders
, 36
(10)
pp. 2220-2222.
10.1002/mds.28765.
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Kia, DA;
Zhang, D;
Guelfi, S;
Manzoni, C;
Hubbard, L;
Reynolds, RH;
Botía, J;
... Botiá, JA; + view all
(2021)
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
JAMA Neurology
, 78
(4)
pp. 464-472.
10.1001/jamaneurol.2020.5257.
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Magrinelli, F;
Mehta, S;
Di Lazzaro, G;
Latorre, A;
Edwards, MJ;
Balint, B;
Basu, P;
... Bhatia, KP; + view all
(2021)
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Movement Disorders
10.1002/mds.28807.
(In press).
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Mencacci, NE;
Steel, D;
Magrinelli, F;
Hsu, J;
Sarmiento, IJK;
Schifferli, MT;
Munoz, D;
... Stamelou, M; + view all
(2021)
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Movement Disorder
, 36
(6)
pp. 1472-1473.
10.1002/mds.28634.
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Mencacci, NE;
Brockmann, MM;
Dai, J;
Pajusalu, S;
Atasu, B;
Campos, J;
Pino, G;
... Acuna, C; + view all
(2021)
Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia.
Journal of Clinical Investigation (JCI)
, 131
(7)
, Article e140625. 10.1172/JCI140625.
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O'Connor, E;
Fourier, C;
Ran, C;
Sivakumar, P;
Liesecke, F;
Southgate, L;
Harder, AVE;
... Belin, AC; + view all
(2021)
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Annals of Neurology
, 90
(2)
pp. 193-202.
10.1002/ana.26150.
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Poole, OV;
Pizzamiglio, C;
Murphy, D;
Falabella, M;
Macken, WL;
Bugiardini, E;
Woodward, CE;
... Pitceathly, RDS; + view all
(2021)
Mitochondrial DNA analysis from exome sequencing data improves the diagnostic yield in neurological diseases.
Annals of Neurology
10.1002/ana.26063.
(In press).
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Storm, CS;
Kia, DA;
Almramhi, MM;
Bandres-Ciga, S;
Finan, C;
Hingorani, AD;
Wood, NW;
(2021)
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.
Nature Communications
, 12
(1)
, Article 7342. 10.1038/s41467-021-26280-1.
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Sullivan, R;
Yau, WY;
Chelban, V;
Rossi, S;
Dominik, N;
O'Connor, E;
Hardy, J;
... Houlden, H; + view all
(2021)
RFC1-related ataxia is a mimic of early multiple system atrophy.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-325092.
(In press).
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van Rheenen, W;
van der Spek, RAA;
Bakker, MK;
van Vugt, JJFA;
Hop, PJ;
Zwamborn, RAJ;
de Klein, N;
... Veldink, JH; + view all
(2021)
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nature Genetics
, 53
(12)
pp. 1636-1648.
10.1038/s41588-021-00973-1.
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Wiessner, M;
Maroofian, R;
Ni, M-Y;
Pedroni, A;
Müller, JS;
Stucka, R;
Beetz, C;
... Senderek, J; + view all
(2021)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
, 144
(5)
pp. 1422-1434.
10.1093/brain/awab041.
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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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2020
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Blauwendraat, C;
Reed, X;
Krohn, L;
Heilbron, K;
Bandres-Ciga, S;
Tan, M;
Gibbs, JR;
... Singleton, AB; + view all
(2020)
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Brain
, 143
(1)
pp. 234-248.
10.1093/brain/awz350.
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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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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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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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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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Chern-Yee Tan, G;
Chu, C;
Teng, LY;
King Clarence, TC;
Ashburner, J;
Wood, NW;
Frackowiak, RS;
(2020)
The influence of microsatellite polymorphisms in sex steroid receptor genes ESR1, ESR2 and AR on sex differences in brain structure.
Neuroimage
, Article 117087. 10.1016/j.neuroimage.2020.117087.
(In press).
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Cortese, A;
Tozza, S;
Yau, WY;
Rossi, S;
Beecroft, SJ;
Jaunmuktane, Z;
Dyer, Z;
... Reilly, MM; + view all
(2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
, 143
(2)
pp. 480-490.
10.1093/brain/awz418.
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Guelfi, S;
D'Sa, K;
Botía, JA;
Vandrovcova, J;
Reynolds, RH;
Zhang, D;
Trabzuni, D;
... Ryten, M; + view all
(2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Nature Communications
, 11
, Article 1041. 10.1038/s41467-020-14483-x.
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Herbst, S;
Campbell, P;
Harvey, J;
Bernard, EM;
Papayannopoulos, V;
Wood, NW;
Morris, HR;
(2020)
LRRK2 activation controls the repair of damaged endomembranes in macrophages.
The EMBO Journal
, Article e104494. 10.15252/embj.2020104494.
(In press).
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Mencacci, NE;
Reynolds, R;
Ruiz, SG;
Vandrovcova, J;
Forabosco, P;
Sánchez-Ferrer, A;
Volpato, V;
... Ryten, M; + view all
(2020)
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Brain
, Article awaa217. 10.1093/brain/awaa217.
(In press).
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Perucca, P;
Anderson, A;
Jazayeri, D;
Hitchcock, A;
Graham, J;
Todaro, M;
Tomson, T;
... EpiPGX and EPIGEN Consortia, .; + view all
(2020)
Antiepileptic drug teratogenicity and de novo genetic variation load.
Annals of Neurology
, 87
(6)
pp. 897-906.
10.1002/ana.25724.
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Sandberg, A;
Ling, H;
Gearing, M;
Dombroski, B;
Cantwell, L;
R'Bibo, L;
Levey, A;
... Mok, KY; + view all
(2020)
Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R.
Neurobiology of Disease
, 146
, Article 105079. 10.1016/j.nbd.2020.105079.
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Steel, D;
Zech, M;
Zhao, C;
Barwick, KE;
Burke, D;
Demailly, D;
Kumar, KR;
... Winkelmann, J; + view all
(2020)
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.
Annals of Neurology
, 88
(5)
pp. 867-877.
10.1002/ana.25879.
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Storm, CS;
Kia, DA;
Almramhi, M;
Wood, NW;
(2020)
Using Mendelian randomization to understand and develop treatments for neurodegenerative disease.
Brain Communications
, 2
(1)
, Article fcaa031. 10.1093/braincomms/fcaa031.
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Sullivan, R;
Yau, WY;
Chelban, V;
Rossi, S;
O'Connor, E;
Wood, NW;
Cortese, A;
(2020)
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
Movement Disorders
10.1002/mds.28074.
(In press).
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Tan, MMX;
Lawton, MA;
Jabbari, E;
Reynolds, RH;
Iwaki, H;
Blauwendraat, C;
Kanavou, S;
... Morris, HR; + view all
(2020)
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.
Movement Disorders
10.1002/mds.28342.
(In press).
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Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
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Vila Cuenca, M;
Marchi, G;
Barqué, A;
Esteban-Jurado, C;
Marchetto, A;
Giorgetti, A;
Chelban, V;
... Sanchez, M; + view all
(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
, 21
(7)
, Article 2374. 10.3390/ijms21072374.
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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
, 143
(7)
e57.
10.1093/brain/awaa144.
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Yau, WY;
Raposo, M;
Bettencourt, C;
Labrum, R;
Vasconcelos, J;
Parkinson, MH;
Giunti, P;
... Houlden, H; + view all
(2020)
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
Brain
, 143
(4)
e25.
10.1093/brain/awaa043.
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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
, 88
(3)
pp. 641-642.
10.1002/ana.25818.
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Yau, WY;
Vandrovcova, J;
Sullivan, R;
Chen, Z;
Zecchinelli, A;
Cilia, R;
Stefano, D;
... Houlden, H; + view all
(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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2019
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Balint, B;
Charlesworth, G;
Erro, R;
Wood, NW;
Bhatia, KP;
(2019)
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!
Movement Disorders
, 34
(4)
pp. 589-592.
10.1002/mds.27638.
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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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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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Blauwendraat, C;
Heilbron, K;
Vallerga, CL;
Bandres-Ciga, S;
von Coelln, R;
Pihlstrøm, L;
Simón-Sánchez, J;
... International Parkinson's Disease Genomics Consortium (IPDGC); + view all
(2019)
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.
Movement Disorders
10.1002/mds.27659.
(In press).
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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;
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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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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Harold, D;
Connolly, S;
Riley, BP;
Kendler, KS;
McCarthy, SE;
McCombie, WR;
Richards, A;
... Morris, DW; + view all
(2019)
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
, 180
(3)
pp. 223-231.
10.1002/ajmg.b.32716.
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Hess, JL;
Tylee, DS;
Mattheisen, M;
Schizophrenia Working Group of the Psychiatric Genomics Consorti;
Lundbeck Foundation Initiative for Integrative Psychiatric Resea;
Børglum, AD;
Als, TD;
... Glatt, SJ; + view all
(2019)
A polygenic resilience score moderates the genetic risk for schizophrenia.
Molecular Psychiatry
10.1038/s41380-019-0463-8.
(In press).
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Iglesias, AI;
Mishra, A;
Vitart, V;
Bykhovskaya, Y;
Höhn, R;
Springelkamp, H;
Cuellar-Partida, G;
... MacGregor, S; + view all
(2019)
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
[Corrigendum].
Nature Communications
, 10
, Article 155. 10.1038/s41467-018-07819-1.
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Malek, N;
Kanavou, S;
Lawton, MA;
Pitz, V;
Grosset, KA;
Bajaj, N;
Barker, RA;
... PRoBaND clinical consortium; + view all
(2019)
L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression.
Parkinsonism & Related Disorders
, 65
pp. 55-61.
10.1016/j.parkreldis.2019.05.022.
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Nalls, MA;
Blauwendraat, C;
Vallerga, CL;
Heilbron, K;
Bandres-Ciga, S;
Chang, D;
Tan, M;
... Guerreiro, R; + view all
(2019)
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