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Number of items: 65.
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
10.1111/cge.14492.
(In press).
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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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B
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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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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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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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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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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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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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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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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
, Article awae010. 10.1093/brain/awae010.
(In press).
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F
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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;
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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H
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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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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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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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K
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Kartanou, C;
Mitrousias, A;
Pellerin, D;
Kontogeorgiou, Z;
Iruzubieta, P;
Dicaire, MJ;
Danzi, MC;
... Koutsis, G; + view all
(2024)
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Clinical Genetics
10.1111/cge.14482.
(In press).
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Kekenadze, Mariam;
Rocca, Clarissa;
Turchetti, Valentina;
Nagy, Sara;
Kvirkvelia, Nana;
Vashadze, Shorena;
Kvaratskhelia, Eka;
... Houlden, Henry; + view all
(2024)
Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).
F1000Research
, 12
, Article 1113. 10.12688/f1000research.138436.2.
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Koay, Shiwen;
(2024)
Multimodal biomarkers to improve the diagnosis and treatment of autonomic diseases.
Doctoral thesis (Ph.D), UCL (University College London).
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Kobylecki, Christopher;
Chelban, Viorica;
Goh, Yee Yen;
Michou, Emilia;
Fumi, Riona;
Theilmann Jensen, Marte;
Mohammad, Rahema;
... Houlden, Henry; + view all
(2024)
Frequency and outcomes of gastrostomy insertion in a longitudinal cohort study of atypical parkinsonism.
European Journal of Neurology
, Article e16258. 10.1111/ene.16258.
(In press).
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Koparir, Asuman;
Lekszas, Caroline;
Keseroglu, Kemal;
Rose, Thalia;
Rappl, Lena;
Rad, Aboulfazl;
Maroofian, Reza;
... Liedtke, Daniel; + view all
(2024)
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Human Genomics
, 18
(1)
, Article 23. 10.1186/s40246-024-00593-w.
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L
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Lana-Elola, Eva;
Aoidi, Rifdat;
Llorian, Miriam;
Gibbins, Dorota;
Buechsenschuetz, Callan;
Bussi, Claudio;
Flynn, Helen;
... Tybulewicz, Victor LJ; + view all
(2024)
Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.
Science Translational Medicine
, 16
(731)
, Article eadd6883. 10.1126/scitranslmed.add6883.
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Laugwitz, Lucia;
Cheng, Fubo;
Collins, Stephan C;
Hustinx, Alexander;
Navarro, Nicolas;
Welsch, Simon;
Cox, Helen;
... Haack, Tobias B; + view all
(2024)
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
10.1093/brain/awae058.
(In press).
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Lee, Keng Siang;
Chari, Aswin;
Motiwala, Mustafa;
Khan, Nickalus R;
Arthur, Adam S;
Lawton, Michael T;
(2024)
Effectiveness of Cerebrospinal Fluid Lumbar Drainage Among Patients with Aneurysmal Subarachnoid Hemorrhage: An Updated Systematic Review and Meta-Analysis.
World Neurosurgery
10.1016/j.wneu.2024.01.062.
(In press).
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Lopes, DM;
Wells, JA;
Ma, D;
Wallis, L;
Park, D;
Llewellyn, SK;
Ahmed, Z;
... Harrison, IF; + view all
(2024)
Glymphatic inhibition exacerbates tau propagation in an Alzheimer’s disease model.
Alzheimer's Research and Therapy
, 16
(1)
, Article 71. 10.1186/s13195-024-01439-2.
(In press).
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M
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Maheshwari, S;
Akram, H;
Bulstrode, H;
Kalia, SK;
Morizane, A;
Takahashi, J;
Natalwala, A;
(2024)
Dopaminergic Cell Replacement for Parkinson’s Disease: Addressing the Intracranial Delivery Hurdle.
Journal of Parkinson's disease
, 14
(3)
pp. 415-435.
10.3233/JPD-230328.
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Male, Amanda J;
Holmes, Sarah L;
Koohi, Nehzat;
Dudziec, Magdalena;
Hanna, Michael G;
Ramdharry, Gita M;
Pizzamiglio, Chiara;
... Kaski, Diego; + view all
(2024)
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease.
European Journal of Neurology
, Article e16216. 10.1111/ene.16216.
(In press).
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Marcus, Hani J;
Ramirez, Pedro T;
Khan, Danyal Z;
Layard Horsfall, Hugo;
Hanrahan, John G;
Williams, Simon C;
Beard, David J;
... IDEAL Robotics Colloquium; + view all
(2024)
The IDEAL framework for surgical robotics: development, comparative evaluation and long-term monitoring.
Nature Medicine
, 30
pp. 61-75.
10.1038/s41591-023-02732-7.
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Maroofian, R;
Zamani, M;
Kaiyrzhanov, R;
Liebmann, L;
Karimiani, EG;
Vona, B;
Huebner, AK;
... Hübner, CA; + view all
(2024)
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genetics in Medicine
, 26
(3)
, Article 101034. 10.1016/j.gim.2023.101034.
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Mendia, C;
Peineau, T;
Zamani, M;
Felgerolle, C;
Yahiaoui, N;
Christophersen, N;
Papal, S;
... El-Amraoui, A; + view all
(2024)
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Molecular Therapy
, 32
(3)
pp. 800-8817.
10.1016/j.ymthe.2024.01.021.
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Menon, Poornima Jayadev;
Sambin, Sara;
Criniere-Boizet, Baptiste;
Courtin, Thomas;
Tesson, Christelle;
Casse, Fanny;
Ferrien, Melanie;
... French Parkinson disease Genetics Study Group (PDG); + view all
(2024)
Genotype–phenotype correlation in PRKN-associated Parkinson’s disease.
npj Parkinson's Disease
, 10
, Article 72. 10.1038/s41531-024-00677-3.
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Milioto, Carmelo;
Carcolé, Mireia;
Giblin, Ashling;
Coneys, Rachel;
Attrebi, Olivia;
Ahmed, Mhoriam;
Harris, Samuel S;
... Isaacs, Adrian M; + view all
(2024)
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Nature Neuroscience
10.1038/s41593-024-01589-4.
(In press).
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Moncur, EM;
D'Antona, L;
Peters, AL;
Favarato, G;
Thompson, S;
Vicedo, C;
Thorne, L;
... Bancroft, MJ; + view all
(2024)
Ambulatory intracranial pressure in humans: ICP increases during movement between body positions.
Brain and Spine
, 4
, Article 102771. 10.1016/j.bas.2024.102771.
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N
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Nardone, Stefano;
De Luca, Roberto;
Zito, Antonino;
Klymko, Nataliya;
Nicoloutsopoulos, Dimitris;
Amsalem, Oren;
Brannigan, Cory;
... Lowell, Bradford B; + view all
(2024)
A spatially-resolved transcriptional atlas of the murine dorsal pons at single-cell resolution.
Nature Communications
, 15
, Article 1966. 10.1038/s41467-024-45907-7.
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Nart, Luca;
Desikan, Mahalekshmi;
Pietrusz, Aleksandra;
Savvatis, Konstantinos;
Quinlivan, Ros;
(2024)
Neurodiversity, treatment compliance and survival in adults with Duchenne muscular dystrophy: A single-centre retrospective cohort review.
Neuromuscular Disorders
, 35
pp. 13-18.
10.1016/j.nmd.2023.12.003.
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Nóbrega, Paulo R;
R B de Paiva, Anderson;
Souza, Katiane S;
de Souza, Jorge Luiz B;
G S B Lima, Pedro Lucas;
da Silva, Delson José;
Pitombeira, Milena Sales;
... Braga-Neto, Pedro; + view all
(2024)
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Brain Communications
, 6
(1)
, Article fcad273. 10.1093/braincomms/fcad273.
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Novis, Luiz Eduardo;
Alavi, Shahryar;
Pellerin, David;
Della Coleta, Marcus Vinicius;
Raskin, Salmo;
Spitz, Mariana;
Cortese, Andrea;
... Teive, Helio Afonso; + view all
(2024)
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Parkinsonism and Related Disorders
, 119
, Article 105961. 10.1016/j.parkreldis.2023.105961.
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O
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Ojo, Oluwadamilola Omolara;
Bandres-Ciga, Sara;
Makarious, Mary B;
Crea, Peter Wild;
Hernandez, Dena G;
Houlden, Henry;
Rizig, Mie;
... Nigeria Parkinson's Disease Research Network and the Global Park; + view all
(2024)
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
Movement Disorders
10.1002/mds.29753.
(In press).
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P
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Paul, Maimuna S;
Michener, Sydney L;
Pan, Hongling;
Chan, Hiuling;
Pfliger, Jessica M;
Rosenfeld, Jill A;
Lerma, Vanesa C;
... Undiagnosed Diseases Network, .; + view all
(2024)
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
American Journal of Human Genetics
, 111
(1)
pp. 96-118.
10.1016/j.ajhg.2023.12.004.
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Pellerin, D;
Heindl, F;
Traschütz, A;
Rujescu, D;
Hartmann, AM;
Brais, B;
Houlden, H;
... Synofzik, M; + view all
(2024)
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
Journal of Neurology
10.1007/s00415-024-12229-z.
(In press).
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Pipis, Menelaos;
Jaunmuktane, Zane;
Marafioti, Teresa;
Brandner, Sebastian;
Smith, Elaine C;
D'Sa, Shirley;
Lunn, Michael P;
... Reilly, Mary M; + view all
(2024)
Nerve biopsy in T-cell lymphoma with neurolymphomatosis: where and when.
Practical Neurology
10.1136/pn-2023-003992.
(In press).
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Q
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Quinlivan, R;
Murphy, E;
Pula, S;
Pain, A;
Brain, H;
Scopes, G;
Gjika, F;
... Houlden, H; + view all
(2024)
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Neuromuscular Disorders
, 34
pp. 49-53.
10.1016/j.nmd.2023.11.012.
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R
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Rhymes, Elena R;
Simkin, Rebecca L;
Qu, Ji;
Villarroel-Campos, David;
Surana, Sunaina;
Tong, Yao;
Shapiro, Ryan;
... Sleigh, James N; + view all
(2024)
Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.
Neurobiology of Disease
, 195
, Article 106501. 10.1016/j.nbd.2024.106501.
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Rosh, Idan;
Tripathi, Utkarsh;
Hussein, Yara;
Rike, Wote Amelo;
Djamus, Jose;
Shklyar, Boris;
Manole, Andreea;
... Stern, Shani; + view all
(2024)
Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson's disease patients.
npj Parkinsons Disease
, 10
(1)
, Article 38. 10.1038/s41531-024-00653-x.
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Rossant, Cyrille;
Schneps, Leila;
(2024)
Statistical models of hospital patient fatality rates after accidental falls in children.
Applied Mathematics and Computation
, 473
, Article 128678. 10.1016/j.amc.2024.128678.
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S
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Saketkoo, LA;
Paik, JJ;
Alexanderson, H;
Dimachkie, MM;
Ernste, FC;
Naddaf, E;
Shafranski, B;
... Machado, PM; + view all
(2024)
Collaborative research in myositis-related disorders: MIHRA, a global shared community model.
Clinical and Experimental Rheumatology
, 42
, Article CER17535. 10.55563/clinexprheumatol/hc1lsf.
(In press).
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Salam, Sharfaraz;
Allen, Jodi;
Dimachkie, Mazen M;
Hanna, Michael G;
Machado, Pedro M;
(2024)
Imaging swallowing function and the mechanisms driving dysphagia in inclusion body myositis.
Clinical and Experimental Rheumatology
, 42
, Article CER17410. 10.55563/clinexprheumatol/t1x3qa.
(In press).
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Salerno, Luigia;
(2024)
Active methylene units for homogeneous cysteine bioconjugation.
Doctoral thesis (Ph.D), UCL (University College London).
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Salim, Omar;
Chari, Aswin;
Ben Zvi, Ido;
Batchelor, Rachel;
Jones, Monika;
Baldeweg, Torsten;
Cross, J Helen;
(2024)
Patient, parent and carer perspectives surrounding expedited paediatric epilepsy surgery.
Epilepsy Research
, 200
, Article 107309. 10.1016/j.eplepsyres.2024.107309.
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Sansom, O;
Wells, S;
Kent, D;
Wood, A;
Pitceathly, RDS;
Isles, A;
Liu, K;
... Chesler, L; + view all
(2024)
Better translation via collaboration: The MRC National Mouse Genetics Network.
Cell Genomics
, 4
(2)
, Article 100483. 10.1016/j.xgen.2023.100483.
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Seddighi, Sahba;
Qi, Yue A;
Brown, Anna-Leigh;
Wilkins, Oscar G;
Bereda, Colleen;
Belair, Cedric;
Zhang, Yong-Jie;
... Ward, Michael E; + view all
(2024)
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD.
Science Translational Medicine
, 16
(734)
10.1126/scitranslmed.adg7162.
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Shebl, Nourhan;
El-Jaafary, Shaimaa;
Saeed, Ayman A;
Elkafrawy, Passent;
El-Sayed, Amr;
Shamma, Samir;
Elnemr, Rasha;
... Salama, Mohamed; + view all
(2024)
Metabolomic profiling reveals altered phenylalanine metabolism in Parkinson’s disease in an Egyptian cohort.
Frontiers in Molecular Biosciences
, 11
, Article 1341950. 10.3389/fmolb.2024.1341950.
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Spence, Holly;
Waldron, Fergal M;
Saleeb, Rebecca S;
Brown, Anna-Leigh;
Rifai, Olivia M;
Gilodi, Martina;
Read, Fiona;
... Gregory, Jenna M; + view all
(2024)
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS.
Acta Neuropathologica
, 147
(1)
, Article 50. 10.1007/s00401-024-02705-1.
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Starup-Hansen, Joachim;
Newall, Nicola;
Dimitrakakis, Emmanouil;
Khan, Danyal Z;
Dwyer, George;
Iyengar, Keshav;
Psychogyios, Dimitrios;
... Marcus, Hani J; + view all
(2024)
A Handheld Robot for Endoscopic Endonasal Skull Base Surgery: Updated Preclinical Validation Study (IDEAL Stage 0).
Journal of Neurological Surgery Part B: Skull Base
10.1055/a-2297-3647.
(In press).
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Sultan, Tipu;
Scorrano, Giovanna;
Panciroli, Marta;
Christoforou, Marilena;
Raza Alvi, Javeria;
Di Ludovico, Armando;
Qureshi, Sameen;
... Houlden, Henry; + view all
(2024)
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.
Gene
, 899
, Article 148119. 10.1016/j.gene.2023.148119.
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V
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van Dalen, Thijs;
Kirkham, Jessica F;
Chari, Aswin;
D'Arco, Felice;
Moeller, Friederike;
Eltze, Christin;
Cross, J Helen;
... Thornton, Rachel C; + view all
(2024)
Characterizing Frontal Lobe Seizure Semiology in Children.
Annals of Neurology
10.1002/ana.26922.
(In press).
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Villarroel-Campos, David;
Sleigh, James N;
(2024)
Targeting muscle to treat Charcot-Marie-Tooth disease.
Neural Regeneration Research
, 19
(8)
pp. 1653-1654.
10.4103/1673-5374.389634.
(In press).
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Vishnu, Venugopalan Y;
Lemmers, Richard JLF;
Reyaz, Alisha;
Mishra, Rinkle;
Ahmad, Tanveer;
van der Vliet, Patrick J;
Kretkiewicz, Marcelina M;
... Srivastava, MV Padma; + view all
(2024)
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
european journal of human genetics
10.1038/s41431-024-01577-z.
(In press).
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