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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Published in:
2015
By:
- Schnekenberg, Ricardo Parolin;
- Perkins, Emma M.;
- Miller, Jack W.;
- Davies, Wayne I. L.;
- D'Adamo, Maria Cristina;
- Pessia, Mauro;
- Fawcett, Katherine A.;
- Sims, David;
- Gillard, Elodie;
- Hudspith, Karl;
- Skehel, Paul;
- Williams, Jonathan;
- O'Regan, Mary;
- Jayawant, Sandeep;
- Jefferson, Rosalind;
- Hughes, Sarah;
- Lustenberger, Andrea;
- Ragoussis, Jiannis;
- Jackson, Mandy;
- Tucker, Stephen J.
Publication type:
journal article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
By:
- Pagnamenta, Alistair T;
- Lise, Stefano;
- Harrison, Victoria;
- Stewart, Helen;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Deng, Alexander T;
- Murphy, Valerie Elizabeth;
- Akha, Elham Sadighi;
- Rimmer, Andy;
- Mathieson, Iain;
- Knight, Samantha JL;
- Kini, Usha;
- Taylor, Jenny C;
- Keays, David A
Publication type:
Article
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Published in:
2016
By:
- Finlayson, Sarah;
- Morrow, Jasper M.;
- Rodriguez Cruz, Pedro M.;
- Sinclair, Christopher D.J.;
- Fischmann, Arne;
- Thornton, John S.;
- Knight, Steve;
- Norbury, Ray;
- White, Mel;
- Al‐hajjar, Michal;
- Carboni, Nicola;
- Jayawant, Sandeep;
- Robb, Stephanie A.;
- Yousry, Tarek A.;
- Beeson, David;
- Palace, Jacqueline;
- Al-Hajjar, Michal
Publication type:
journal article
Infantile neuroaxonal dystrophy caused by uniparental disomy.
Published in:
Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 386, doi. 10.1111/dmcn.12327
By:
- Solomons, Joyce;
- Ridgway, Oliver;
- Hardy, Carol;
- Kurian, Manju;
- Jayawant, Sandeep;
- Hughes, Sarah;
- Pretorius, Pieter;
- Németh, Andrea H
Publication type:
Article
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 187, doi. 10.1111/j.1469-8749.2011.04142.x
By:
- ANAND, GEETHA;
- HASAN, NADEEM;
- JAYAPAL, SATHIYA;
- HUMA, ZILLA;
- ALI, TARIQ;
- HULL, JEREMY;
- BLAIR, EDWARD;
- MCSHANE, TONY;
- JAYAWANT, SANDEEP
Publication type:
Article
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Published in:
Developmental Medicine & Child Neurology, 2011, v. 53, n. 7, p. 664, doi. 10.1111/j.1469-8749.2011.03949.x
By:
- ANAND, GEETHA;
- PADENIYA, ANURUDDHA;
- HANRAHAN, DONNCHA;
- SCHEFFER, HANS;
- ZAIWALLA, ZENOBIA;
- COX, DEBBIE;
- MANN, NICHOLAS;
- HEWERTSON, JOHN;
- PRICE, SUE;
- NEMETH, ANDREA;
- ARSOV, TODOR;
- SCHEFFER, INGRID;
- JAYAWANT, SANDEEP;
- PIKE, MICHAEL;
- MCSHANE, TONY
Publication type:
Article
Alexander disease with periventricular calcification: a novel mutation of the GFAP gene Case Report.
Published in:
Developmental Medicine & Child Neurology, 2010, v. 52, n. 12, p. 1160, doi. 10.1111/j.1469-8749.2010.03784.x
By:
- JEFFERSON, ROSALIND J.;
- ABSOUD, MICHAEL;
- JAIN, RAKESH;
- LIVINGSTON, JOHN H.;
- VAN DER KNAAP, MARJO S.;
- JAYAWANT, SANDEEP
Publication type:
Article
X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.
Published in:
Developmental Medicine & Child Neurology, 2010, v. 52, n. 7, p. 677, doi. 10.1111/j.1469-8749.2010.03674.x
By:
- ANAND, GEETHA;
- MAHESHWARI, NITIN;
- ROBERTS, DAVID;
- PADENIYA, ANURUDDHA;
- HAMILTON-AYERS, MICHELE;
- VAN DER KNAAP, MARJO;
- FRATTER, CARL;
- JAYAWANT, SANDEEP
Publication type:
Article
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
Published in:
Developmental Medicine & Child Neurology, 2010, v. 52, n. 3, p. 305, doi. 10.1111/j.1469-8749.2009.03470.x
By:
- ABSOUD, MICHAEL;
- PARR, JEREMY R.;
- HALLIDAY, DOROTHY;
- PRETORIUS, PIETER;
- ZAIWALLA, ZENOBIA;
- JAYAWANT, SANDEEP
Publication type:
Article
Peter Harper: Myotonic dystrophy.
Published in:
2010
By:
- Jayawant, Sandeep
Publication type:
Book Review
Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis.
Published in:
JAMA Neurology, 2015, v. 72, n. 6, p. 642, doi. 10.1001/jamaneurol.2015.0203
By:
- Cruz, Pedro M. Rodríguez;
- Al-Hajjar, Michal;
- Huda, Saif;
- Jacobson, Leslie;
- Woodhall, Mark;
- Jayawant, Sandeep;
- Buckley, Camilla;
- Hilton-Jones, David;
- Beeson, David;
- Vincent, Angela;
- Leite, Maria Isabel;
- Palace, Jacqueline
Publication type:
Article
The neurodevelopmental outcome in infants who have sustained a subdural haemorrhage from non-accidental head injury.
Published in:
Child Abuse Review, 2004, v. 13, n. 3, p. 178, doi. 10.1002/car.850
By:
- Karandikar, Swati;
- Coles, Lisa;
- Jayawant, Sandeep;
- Kemp, Alison M.
Publication type:
Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
By:
- Németh, Andrea H.;
- Kwasniewska, Alexandra C.;
- Lise, Stefano;
- Parolin Schnekenberg, Ricardo;
- Becker, Esther B. E.;
- Bera, Katarzyna D.;
- Shanks, Morag E.;
- Gregory, Lorna;
- Buck, David;
- Zameel Cader, M.;
- Talbot, Kevin;
- de Silva, Rajith;
- Fletcher, Nicholas;
- Hastings, Rob;
- Jayawant, Sandeep;
- Morrison, Patrick J.;
- Worth, Paul;
- Taylor, Malcolm;
- Tolmie, John;
- O’Regan, Mary
Publication type:
Article
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1507, doi. 10.1093/brain/awm072
By:
- Jacqueline Palace;
- Daniel Lashley;
- John Newsom-Davis;
- Judy Cossins;
- Susan Maxwell;
- Robin Kennett;
- Sandeep Jayawant;
- Yuji Yamanashi;
- David Beeson
Publication type:
Article
Gliomatosis cerebri in a 10-year-old girl masquerading as diffuse encephalomyelitis and spinal cord tumour.
Published in:
2001
By:
- Jayawant, Sandeep;
- Neale, Jim;
- Stoodley, Neil;
- Wallace, Sheila;
- Jayawant, S;
- Neale, J;
- Stoodley, N;
- Wallace, S
Publication type:
journal article
Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs.
Published in:
Turkish Journal of Pediatrics, 2023, v. 65, n. 3, p. 531, doi. 10.24953/turkjped.2022.513
By:
- Lee, Jessica;
- Millington, Philip;
- Dayasiri, Kavinda;
- Ramdas, Sithara;
- Jayawant, Sandeep;
- Anand, Geetha
Publication type:
Article
Nemaline myopathy caused by absence of α‐skeletal muscle actin.
Published in:
Annals of Neurology, 2007, v. 61, n. 2, p. 175, doi. 10.1002/ana.21035
By:
- Kristen J. Nowak;
- Caroline A. Sewry;
- Carmen Navarro;
- Waney Squier;
- Cristina Reina;
- Jose R. Ricoy;
- Sandeep S. Jayawant;
- Anne‐Marie Childs;
- J. Angus Dobbie;
- Richard E. Appleton;
- Roger C. Mountford;
- Kendall R. Walker;
- Sophie Clement;
- Annie Barois;
- Francesco Muntoni;
- Norma B. Romero;
- Nigel G. Laing
Publication type:
Article
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 20, p. 3391, doi. 10.1093/hmg/ddz186
By:
- Pagnamenta, Alistair T;
- Heemeryck, Pierre;
- Martin, Hilary C;
- Bosc, Christophe;
- Peris, Leticia;
- Uszynski, Ivy;
- Gory-Fauré, Sylvie;
- Couly, Simon;
- Deshpande, Charu;
- Siddiqui, Ata;
- Elmonairy, Alaa A;
- Consortium, WGS500;
- Consortium, Genomics England Research;
- Jayawant, Sandeep;
- Murthy, Sarada;
- Walker, Ian;
- Loong, Lucy;
- Bauer, Peter;
- Vossier, Frédérique;
- Denarier, Eric
Publication type:
Article
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder.
Published in:
Movement Disorders, 2023, v. 38, n. 2, p. 347, doi. 10.1002/mds.29280
By:
- Magrinelli, Francesca;
- Rocca, Clarissa;
- Simone, Roberto;
- Zenezini Chiozzi, Riccardo;
- Jaunmuktane, Zane;
- Mencacci, Niccolò E.;
- Tinazzi, Michele;
- Jayawant, Sandeep;
- Nemeth, Andrea H.;
- Demidov, German;
- Houlden, Henry;
- Bhatia, Kailash P.
Publication type:
Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Published in:
2020
By:
- Ng, Joanne;
- Cortès‐Saladelafont, Elisenda;
- Abela, Lucia;
- Termsarasab, Pichet;
- Mankad, Kshitij;
- Sudhakar, Sniya;
- Gorman, Kathleen M.;
- Heales, Simon J.R.;
- Pope, Simon;
- Biassoni, Lorenzo;
- Csányi, Barbara;
- Cain, John;
- Rakshi, Karl;
- Coutts, Helen;
- Jayawant, Sandeep;
- Jefferson, Rosalind;
- Hughes, Deborah;
- García‐Cazorla, Àngels;
- Grozeva, Detelina;
- Raymond, F. Lucy
Publication type:
journal article
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development.
Published in:
PLoS Genetics, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pgen.1003074
By:
- Lise, Stefano;
- Clarkson, Yvonne;
- Perkins, Emma;
- Kwasniewska, Alexandra;
- Akha, Elham Sadighi;
- Schnekenberg, Ricardo Parolin;
- Suminaite, Daumante;
- Hope, Jilly;
- Baker, Ian;
- Gregory, Lorna;
- Green, Angie;
- Allan, Chris;
- Lamble, Sarah;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Cader, M. Zameel;
- Hughes, Sarah;
- Armstrong, Richard J. E.;
- Kanapin, Alexander;
- Rimmer, Andrew
Publication type:
Article
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 619, doi. 10.1002/humu.23949
By:
- Rodríguez Cruz, Pedro M.;
- Cossins, Judith;
- Cheung, Jonathan;
- Maxwell, Susan;
- Jayawant, Sandeep;
- Herbst, Ruth;
- Waithe, Dominic;
- Kornev, Alexandr P.;
- Palace, Jacqueline;
- Beeson, David
Publication type:
Article
Juvenile Myasthenia Gravis: A Paediatric Perspective.
Published in:
Autoimmune Diseases (2090-0422), 2011, p. 1, doi. 10.4061/2011/404101
By:
- Finnis, Maria F.;
- Jayawant, Sandeep
Publication type:
Article

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