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Number of items: 142.
A
Abdraimova, S;
Myrzayev, Z;
Karimova, A;
Talgatkyzy, A;
Khaibullin, T;
Kaishibayeva, G;
Elubaeva, S;
... Kaiyrzhanov, R; + view all
(2024)
Validation of the Kazakh version of the movement disorder Society-Unified Parkinson's disease rating scale.
Clinical Parkinsonism and Related Disorders
, 10
, Article 100232. 10.1016/j.prdoa.2024.100232.
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Almannai, Mohammed;
Marafi, Dana;
Zaki, Maha S;
Maroofian, Reza;
Efthymiou, Stephanie;
Saadi, Nebal Waill;
Filimban, Bilal;
... El-Hattab, Ayman W; + view all
(2024)
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clinical Genetics
, 105
(6)
pp. 620-629.
10.1111/cge.14492.
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Almousa, Hashem;
Lewis, Sara A;
Bakhtiari, Somayeh;
Nordlie, Sandra Hinz;
Pagnozzi, Alex;
Magee, Helen;
Efthymiou, Stephanie;
... Kruer, Michael C; + view all
(2024)
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
, 147
(1)
10.1093/brain/awad301.
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Armirola-Ricaurte, C;
Zonnekein, N;
Koutsis, G;
Amor-Barris, S;
Pelayo-Negro, AL;
Atkinson, D;
Efthymiou, S;
... Jordanova, A; + view all
(2024)
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genetics in Medicine
, 26
(6)
, Article 101117. 10.1016/j.gim.2024.101117.
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Arslan, Betilay Topkara;
Ozyurt, M Gorkem;
Isaik, Baris;
Cecen, Serpil;
Turker, Kemal S;
(2024)
Single motor unit estimation of the cutaneous silent period in ALS.
Clinical Neurophysiology
, 157
pp. 110-119.
10.1016/j.clinph.2023.11.013.
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Aughey, Gabriel N;
Cali, Elisa;
Maroofian, Reza;
Zaki, Maha S;
Pagnamenta, Alistair T;
Ali, Zafar;
Abdulllah, Uzma;
... Houlden, Henry; + view all
(2024)
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Brain
, Article awae363. 10.1093/brain/awae363.
(In press).
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Aynekin, B;
Samur, BM;
Ozgul Gumus, UG;
Bilguvar, K;
Gulec, A;
Efthymiou, S;
Gumus, H;
... Per, H; + view all
(2024)
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.
Molecular Syndromology
pp. 1-14.
10.1159/000543107.
(In press).
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B
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Beijer, Danique;
Dohrn, Maike F;
Rebelo, Adriana;
Danzi, Matt C;
Grosz, Bianca Rose;
Ellis, Melina;
Kumar, Kishore R;
... Zuchner, Stephan; + view all
(2024)
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Brain
10.1093/brain/awae206.
(In press).
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Benkirane, Mehdi;
Bonhomme, Marion;
Morsy, Heba;
Safgren, Stephanie L;
Marelli, Cecilia;
Chaussenot, Annabelle;
Smedley, Damian;
... Koenig, Michel; + view all
(2024)
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Brain
, Article awae193. 10.1093/brain/awae193.
(In press).
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Biderman, Dan;
Whiteway, Matthew R;
Hurwitz, Cole;
Greenspan, Nicholas;
Lee, Robert S;
Vishnubhotla, Ankit;
Warren, Richard;
... Paninski, Liam; + view all
(2024)
Lightning Pose: improved animal pose estimation via semi-supervised learning, Bayesian ensembling and cloud-native open-source tools.
Nature Methods
, 21
(7)
pp. 1316-1328.
10.1038/s41592-024-02319-1.
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Bin Jalal, Arif Hanafi;
Ngai, Victoria;
Hanrahan, John Gerrard;
Das, Adrito;
Khan, Danyal Z;
Cotton, Elizabeth;
Sharela, Shazia;
... Pandit, Anand S; + view all
(2024)
Empowering Early Career Neurosurgeons in the Critical Appraisal of Artificial Intelligence and Machine Learning: The Design and Evaluation of a Pilot Course.
World Neurosurgery
, 190
e537-e547.
10.1016/j.wneu.2024.07.166.
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Bisschoff, M;
Smuts, I;
Dercksen, M;
Schoonen, M;
Vorster, BC;
van der Watt, G;
Spencer, C;
... van der Westhuizen, FH; + view all
(2024)
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet Journal of Rare Diseases
, 19
(1)
, Article 15. 10.1186/s13023-023-03014-8.
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Bonev, Boyan;
Gonçalo, Castelo-Branco;
Chen, Fei;
Codeluppi, Simone;
Corces, M Ryan;
Fan, Jean;
Heiman, Myriam;
... Nowakowski, Tomasz J; + view all
(2024)
Opportunities and challenges of single-cell and spatially resolved genomics methods for neuroscience discovery.
Nature Neuroscience
, 27
(12)
pp. 2292-2309.
10.1038/s41593-024-01806-0.
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Brown, Anna Leigh;
(2024)
TDP-43-mediated splicing control and RNA stability: unveiling mechanisms and disease implications in ALS and FTD.
Doctoral thesis (Ph.D), UCL (University College London).
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Bryson, JB;
Kourgiantaki, A;
Jiang, D;
Demosthenous, A;
Greensmith, L;
(2024)
An optogenetic cell therapy to restore control of target muscles in an aggressive mouse model of amyotrophic lateral sclerosis.
eLife
, 12
, Article RP88250. 10.7554/eLife.88250.
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C
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Cakar, Arman;
Maroofian, Reza;
Parman, Yesim;
Reilly, Mary M;
Houlden, Henry;
(2024)
Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies.
Brain Communications
, 6
(1)
, Article fcae003. 10.1093/braincomms/fcae003.
(In press).
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Chang, Pishan;
Pérez-González, Marta;
Constable, Jessica;
Bush, Daniel;
Cleverley, Karen;
Tybulewicz, Victor LJ;
Fisher, Elizabeth MC;
(2024)
Neuronal oscillations in cognition: Down syndrome as a model of mouse to human translation.
Neuroscientist
10.1177/10738584241271414.
(In press).
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Chataway, Jeremy;
Wade, Charles;
Murphy, Elaine;
Lynch, David S;
(2024)
An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy.
Brain
, Article awae261. 10.1093/brain/awae261.
(In press).
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Chelban, V;
Houlden, H;
(2024)
White matter disorders with cerebral calcification in adulthood.
Handbook of Clinical Neurology
, 204
pp. 111-131.
10.1016/B978-0-323-99209-1.00024-7.
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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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Chen, Z;
Gustavsson, EK;
Macpherson, H;
Anderson, C;
Clarkson, C;
Rocca, C;
Self, E;
... Ptáček, LJ; + view all
(2024)
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Movement Disorders
10.1002/mds.29704.
(In press).
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Chen, Zhongbo;
Alvarez Jerez, Pilar;
Anderson, Claire;
Paucar, Martin;
Lee, Jasmaine;
Nilsson, Daniel;
Macpherson, Hannah;
... Houlden, Henry; + view all
(2024)
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Movement Disorders
10.1002/mds.30077.
(In press).
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Chen, Zhongbo;
Morris, Huw R;
Polke, James;
Wood, Nicholas W;
Gandhi, Sonia;
Ryten, Mina;
Houlden, Henry;
(2024)
Repeat expansion disorders.
Practical Neurology
10.1136/pn-2023-003938.
(In press).
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Chung, Chih-Yao;
Singh, Kritarth;
Sheshadri, Preethi;
Valdebenito, Gabriel E;
Chacko, Anitta R;
Costa Besada, María Alicia;
Liang, Xiao Fei;
... Duchen, Michael R; + view all
(2024)
Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function.
Autophagy
pp. 1-16.
10.1080/15548627.2024.2437908.
(In press).
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Clément, G;
Puisieux, S;
Ashton, C;
Pellerin, D;
Danzi, MC;
Bonnet, C;
Roth, V;
... Renaud, M; + view all
(2024)
Oculomotor findings in spinocerebellar ataxia 27B: a case series.
Canadian Journal of Neurological Sciences
pp. 1-6.
10.1017/cjn.2024.355.
(In press).
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Colonna, Marco;
Konopka, Genevieve;
Liddelow, Shane A;
Nowakowski, Tomasz;
Awatramani, Rajeshwar;
Bateup, Helen S;
Cadwell, Cathryn R;
... Habib, Naomi; + view all
(2024)
Implementation and validation of single-cell genomics experiments in neuroscience.
Nature Neuroscience
, 27
pp. 2310-2325.
10.1038/s41593-024-01814-0.
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Connolly, Caoilfhionn M;
Gupta, Latika;
Fujimoto, Manabu;
Machado, Pedro M;
Paik, Julie J;
(2024)
Idiopathic inflammatory myopathies: current insights and future frontiers.
The Lancet Rheumatology
, 6
(2)
e115-e127.
10.1016/S2665-9913(23)00322-3.
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Crombie, Elisa M;
Korecki, Andrea J;
Cleverley, Karen;
Adair, Bethany A;
Cunningham, Thomas J;
Lee, Weaverly Colleen;
Lengyell, Tess C;
... Simpson, Elizabeth M; + view all
(2024)
Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders.
Disease Models & Mechanisms
, 17
(7)
, Article dmm050741. 10.1242/dmm.050741.
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Currò, Riccardo;
Dominik, Natalia;
Facchini, Stefano;
Vegezzi, Elisa;
Sullivan, Roisin;
Galassi Deforie, Valentina;
Fernández-Eulate, Gorka;
... Cortese, Andrea; + view all
(2024)
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
10.1093/brain/awad436.
(In press).
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D
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Danzi, MC;
Powell, E;
Rebelo, AP;
Dohrn, MF;
Beijer, D;
Fazal, S;
Xu, IRL;
... Zuchner, S; + view all
(2024)
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Experimental Neurology
, 382
, Article 114978. 10.1016/j.expneurol.2024.114978.
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de Boni, Laura;
Wallis, Amber;
Hays Watson, Aurelia;
Ruiz-Riquelme, Alejandro;
Leyland, Louise-Ann;
Bourinaris, Thomas;
Hannaway, Naomi;
... Bartels, Tim; + view all
(2024)
Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson's patients.
EMBO Molecular Medicine
10.1038/s44321-024-00083-5.
(In press).
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Diekhoff, T;
Eshed, I;
Giraudo, C;
Haibel, H;
Hermann, KGA;
De Hooge, M;
Jans, L;
... Poddubnyy, D; + view all
(2024)
Reporting Sacroiliac Joint Imaging Performed for Known or Suspected Axial Spondyloarthritis: Assessment of SpondyloArthritis International Society Recommendations.
Radiology
, 311
(3)
, Article e231786. 10.1148/radiol.231786.
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Doherty, Carolynne M;
Howard, Paige;
O'Donnell, Luke F;
Zuccarino, Riccardo;
Wastling, Stephen;
Milev, Evelin;
Banks, Tina;
... Reilly, Mary M; + view all
(2024)
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
Annals of Neurology
10.1002/ana.26934.
(In press).
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Doherty, CM;
Morrow, JM;
Zuccarino, R;
Howard, P;
Wastling, S;
Pipis, M;
Zafeiropoulos, N;
... Reilly, MM; + view all
(2024)
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Annals of Clinical and Translational Neurology
10.1002/acn3.51979.
(In press).
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Dominik, Natalia;
(2024)
Genetic and functional
characterisation of ataxias and
neuropathies with a focus on biallelic expansions in RFC1 and biallelic variants in ARHGAP19.
Doctoral thesis (Ph.D), UCL (University College London).
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Duarte, C;
Ferreira, RJO;
Welsing, PMJ;
Jacobs, JWG;
Gossec, L;
Machado, PM;
Van Der Heijde, D;
(2024)
Remission definitions guiding immunosuppressive therapy in rheumatoid arthritis: which is best fitted for the purpose?
RMD Open
, 10
(1)
, Article e003972. 10.1136/rmdopen-2023-003972.
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Dudziec, Magdalena M;
Lee, Laurence E;
Massey, Charlotte;
Tropman, David;
Skorupinska, Mariola;
Laura, Matilde;
Reilly, Mary M;
(2024)
Home-based multi-sensory and proximal strengthening program to improve balance in Charcot–Marie–Tooth disease Type 1A: A proof of concept study.
Muscle & Nerve
, 69
(3)
pp. 354-361.
10.1002/mus.28032.
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E
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Edner, Natalie M;
Houghton, Luke P;
Ntavli, Elisavet;
Rees-Spear, Chloe;
Petersone, Lina;
Wang, Chunjing;
Fabri, Astrid;
... Walker, Lucy SK; + view all
(2024)
IGIT+Tfh show poor B-helper function and negatively correlate with SARS-CoV-2 antibody titre.
Frontiers in Immunology
, 15
, Article 1395684. 10.3389/fimmu.2024.1395684.
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Efthymiou, Stephanie;
Scala, Marcello;
Nagaraj, Vini;
Ochenkowska, Katarzyna;
Komdeur, Fenne L;
Liang, Robin A;
Abdel-Hamid, Mohamed S;
... McClenaghan, Conor; + view all
(2024)
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
, 147
(5)
pp. 1822-1836.
10.1093/brain/awae010.
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Essouma, Mickael;
de Araujo, Daniel Brito;
Day, Jessica;
Conticini, Edoardo;
Riopel, Mary Anne;
Elias, Adriana Maluf;
Paula, Vitor Tavares;
... Doria, Andrea Schwarz; + view all
(2024)
A protocol for scoping reviews on the role of whole-body and dedicated body-part magnetic resonance imaging for assessment of adult and juvenile idiopathic inflammatory myopathies.
Rheumatology International
10.1007/s00296-024-05649-7.
(In press).
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F
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Fabris, Federico;
Megighian, Aram;
Rossetto, Ornella;
Simonato, Morena;
Schiavo, Giampietro;
Pirazzini, Marco;
Montecucco, Cesare;
(2024)
Local Tetanus Begins with a Vesicle-Associated Membrane Protein Cleavage–Associated Neuromuscular Junction Paralysis around the Site of Tetanus Neurotoxin Release.
American Journal of Pathology
10.1016/j.ajpath.2024.05.009.
(In press).
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Fall, Maouly;
Seck, Moussa;
Diop, Alassane Mamadou;
Kahwagi, Jamil;
Yimta, Grace Tsemo;
Guéye, Allé;
Cruz, Pedro Rodriguez;
(2024)
Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome.
The Lancet
, 404
(10463)
pp. 1677-1678.
10.1016/S0140-6736(24)02134-2.
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Fishpool, Katie;
Young, George;
Ciurtin, Coziana;
Cramp, Fiona;
Erhieyovwe, Emmanuel Oghenetejiri;
Farisogullari, Bayram;
Macfarlane, Gary J;
... Dures, Emma; + view all
(2024)
Factors influencing the outcomes of non-pharmacological interventions for managing fatigue across the lifespan of people living with musculoskeletal (MSK) conditions: a scoping review protocol.
BMJ Open
, 14
(5)
, Article e082555. 10.1136/bmjopen-2023-082555.
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G
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Godoy-Corchuelo, Juan M;
Ali, Zeinab;
Armas, Jose M Brito;
Martins-Bach, Aurea B;
Garcia-Toledo, Irene;
Fernandez-Beltran, Luis C;
Lopez-Carbonero, Juan I;
... Corrochano, Silvia; + view all
(2024)
Corrigendum to “TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43” [Neurobiology of disease Volume 193, April 2024, 106437].
[Corrigendum].
Neurobiology of Disease
, 202
, Article 106708. 10.1016/j.nbd.2024.106708.
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Godoy-Corchuelo, Juan M;
Ali, Zeinab;
Brito Armas, Jose M;
Martins-Bach, Aurea B;
García-Toledo, Irene;
Fernández-Beltrán, Luis C;
López-Carbonero, Juan I;
... Corrochano, Silvia; + view all
(2024)
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Neurobiology of Disease
, 193
, Article 106437. 10.1016/j.nbd.2024.106437.
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Gomathy, Saranya B;
Priyanka, Yamini;
Garg, Ajay;
Macken, William L;
Agarwal, Ayush;
Ahmed, Tanveer;
Bhatia, Rohit;
... Vishnu, Venugopalan Y; + view all
(2024)
Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India.
Annals of Indian Academy of Neurology
, 27
(5)
pp. 524-529.
10.4103/aian.aian_348_24.
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H
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Harel, Tamar;
Spicher, Camille;
Scheer, Elisabeth;
Buchan, Jillian G;
Cech, Jennifer;
Folland, Chiara;
Frey, Tanja;
... Tora, László; + view all
(2024)
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
, Article awae160. 10.1093/brain/awae160.
(In press).
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Harms, FL;
Rexach, JE;
Efthymiou, S;
Aynekin, B;
Per, H;
Güleç, A;
Nampoothiri, S;
... Kutsche, K; + view all
(2024)
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
European Journal of Human Genetics
10.1038/s41431-024-01563-5.
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He, Runlong;
Xu, Mengya;
Das, Adrito;
Khan, Danyal Z;
Bano, Sophia;
Marcus, Hani J;
Stoyanov, Danail;
... Islam, Mobarakol; + view all
(2024)
PitVQA: Image-Grounded Text Embedding LLM for Visual Question Answering in Pituitary Surgery.
In: Dou, Q and Linguraru, MG and Feragen, A and Giannarou, S and Glocker, B and Lekadir, K and Schnabel, JA, (eds.)
Medical Image Computing and Computer Assisted Intervention – MICCAI 2024.
(pp. pp. 488-498).
Springer Nature
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Hegazi, MN;
El-Jaafary, S;
Shebl, N;
El-Fawal, H;
Rizig, M;
Salama, M;
(2024)
Remote Sensing Data as a Tool for Studying Environmental Aspects of Parkinson's Disease.
Journal of Parkinson's Disease
, 14
(3)
pp. 619-622.
10.3233/JPD-230382.
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Hong, Ingie;
Kim, Juhyun;
Hainmueller, Thomas;
Kim, Dong Won;
Keijser, Joram;
Johnson, Richard C;
Park, Soo Hyun;
... Huganir, Richard L; + view all
(2024)
Calcium-permeable AMPA receptors govern PV neuron feature selectivity.
Nature
10.1038/s41586-024-08027-2.
(In press).
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Hsieh, Evelyn;
Dey, Dzifa;
Grainger, Rebecca;
Li, Mengtao;
Machado, Pedro M;
Ugarte-Gil, Manuel F;
Yazdany, Jinoos;
(2024)
Global Perspective on the Impact of the COVID-19 Pandemic on Rheumatology and Health Equity.
Arthritis Care & Research
, 76
(1)
pp. 22-31.
10.1002/acr.25169.
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Husain, Ralf A;
Jiao, Xinfu;
Hennings, J Christopher;
Giesecke, Jan;
Palsule, Geeta;
Beck-Wödl, Stefanie;
Osmanović, Dina;
... Rubio, Ignacio; + view all
(2024)
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
, 147
(4)
pp. 1197-1205.
10.1093/brain/awad434.
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Hutchinson, Peter J;
Edlmann, Ellie;
Hanrahan, John G;
Bulters, Diederik;
Zolnourian, Ardalan;
Holton, Patrick;
Suttner, Nigel;
... Kolias, Angelos G; + view all
(2024)
A randomised, double blind, placebo-controlled trial of a two-week course of dexamethasone for adult patients with a symptomatic Chronic Subdural Haematoma (Dex-CSDH trial).
Health Technology Assessment
, 28
(12)
pp. 1-122.
10.3310/xwzn4832.
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I
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Iacomino, Michele;
Houerbi, Nadia;
Fortuna, Sara;
Howe, Jennifer;
Li, Shan;
Scorrano, Giovanna;
Riva, Antonella;
... Salpietro, Vincenzo; + view all
(2024)
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Frontiers in Molecular Neuroscience
, 17
, Article 1268013. 10.3389/fnmol.2024.1268013.
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Ibanez, Kristina;
Jadhav, Bharati;
Zanovello, Matteo;
Gagliardi, Delia;
Clarkson, Christopher;
Facchini, Stefano;
Garg, Paras;
... Tucci, Arianna; + view all
(2024)
Increased frequency of repeat expansion mutations across different populations.
Nature Medicine
10.1038/s41591-024-03190-5.
(In press).
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Ilyas, Muhammad;
Tariq, Faiza;
Ishaq, Rafaqat;
Habiba, Umme;
Bibi, Farah;
Khan, Sadiq Noor;
Ali, Yasir;
... Shaiq, Pakeeza Arzoo; + view all
(2024)
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Epilepsy Research
, 201
, Article 107283. 10.1016/j.eplepsyres.2023.107283.
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J
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Jensen, Melanie P;
Qiang, Zekai;
Khan, Danyal Z;
Stoyanov, Danail;
Baldeweg, Stephanie E;
Jaunmuktane, Zane;
Brandner, Sebastian;
(2024)
Artificial intelligence in histopathological image analysis of central nervous system tumours: A systematic review.
Neuropathology and Applied Neurobiology
, 50
(3)
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A Handheld Robot for Endoscopic Endonasal Skull Base Surgery: Updated Preclinical Validation Study (IDEAL Stage 0).
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Advancing Parkinson's Disease Research in Africa: A Strategic Training Framework of the Global Parkinson's Genetics Program.
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