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1

Evaluation of the floppy infant

Vasantha Gowda, Jeremy Parr, Sandeep Jayawant

Journal:

Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 805 KB

english, 2008

2

Infantile neuroaxonal dystrophy caused by uniparental disomy

Solomons, Joyce, Ridgway, Oliver, Hardy, Carol, Kurian, Manju, Jayawant, Sandeep, Hughes, Sarah, Pretorius, Pieter, Németh, Andrea H

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 161 KB

english, 2014

3

Menkes kinky hair disease: an unusual case

Sandeep Jayawant, Shawn Halpin, Sheila G Wallace

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 112 KB

english, 2000

4

Evaluation of the floppy infant

Rakesh Kumar Jain, Sandeep Jayawant

Journal:

Paediatrics and Child Health

Year:

2011

Language:

english

File:

PDF, 783 KB

english, 2011

5

[Handbook of Clinical Neurology] Pediatric Neurology Part III Volume 113 || Autoimmune myasthenia gravis

Jayawant, Sandeep

Year:

2013

Language:

english

File:

PDF, 78 KB

english, 2013

6

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

Rodríguez Cruz, Pedro M., Al-Hajjar, Michal, Huda, Saif, Jacobson, Leslie, Woodhall, Mark, Jayawant, Sandeep, Buckley, Camilla, Hilton-Jones, David, Beeson, David, Vincent, Angela, Leite, Maria Isabel

Journal:

Year:

2015

Language:

english

File:

PDF, 296 KB

english, 2015

7

Nemaline myopathy caused by absence of α-skeletal muscle actin

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, Kend

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 1.22 MB

english, 2007

8

The neurodevelopmental outcome in infants who have sustained a subdural haemorrhage from non-accidental head injury

Swati Karandikar, Lisa Coles, Sandeep Jayawant, Alison M. Kemp

Journal:

Child Abuse Review

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

9

Peter Harper: Myotonic dystrophy

Sandeep Jayawant

Journal:

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

10

Gliomatosis cerebri in a 10–year-old girl masquerading as diffuse encephalomyelitis and spinal cord tumour

Sandeep Jayawant, Jim Neale, Neil Stoodley, Sheila Wallace

Journal:

Developmental Medicine & Child Neurology

Year:

2001

Language:

english

File:

PDF, 99 KB

english, 2001

11

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder

MICHAEL ABSOUD, JEREMY R PARR, DOROTHY HALLIDAY, PIETER PRETORIUS, ZENOBIA ZAIWALLA, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 304 KB

english, 2010

12

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

GEETHA ANAND, NITIN MAHESHWARI, DAVID ROBERTS, ANURUDDHA PADENIYA, MICHELE HAMILTON-AYERS, MARJO VAN DER KNAAP, CARL FRATTER, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 336 KB

english, 2010

13

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene

ROSALIND J JEFFERSON, MICHAEL ABSOUD, RAKESH JAIN, JOHN H LIVINGSTON, MARJO S VAN DER KNAAP, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 388 KB

english, 2010

14

Milder phenotypes of glucose transporter type 1 deficiency syndrome

GEETHA ANAND, ANURUDDHA PADENIYA, DONNCHA HANRAHAN, HANS SCHEFFER, ZENOBIA ZAIWALLA, DEBBIE COX, NICHOLAS MANN, JOHN HEWERTSON, SUE PRICE, ANDREA NEMETH, TODOR ARSOV, INGRID SCHEFFER, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 813 KB

english, 2011

15

Early use of high-dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome

GEETHA ANAND, NADEEM HASAN, SATHIYA JAYAPAL, ZILLA HUMA, TARIQ ALI, JEREMY HULL, EDWARD BLAIR, TONY MCSHANE, SANDEEP JAYAWANT

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

16

Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion

Karl J. Morten, Neil Ashley, Frits Wijburg, Nedim Hadzic, Jeremy Parr, Sandeep Jayawant, Susan Adams, Laurence Bindoff, Henk D. Bakker, Giorgina Mieli-Vergani, Massimo Zeviani, Joanna Poulton

Journal:

Year:

2007

Language:

english

File:

PDF, 417 KB

english, 2007

17

Pediatric Neurology (House Officer Series): M. Cohen et al. (Eds); Lippincott Williams & Wilkins, Philadelphia, PA, 4th edition, 2003, 250 pages, ISBN 0-7817-2931-9 (£23.50)

Sandeep Jayawant

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 29 KB

english, 2004

18

Clinical features in a series of fast channel congenital myasthenia syndrome

Jacqueline Palace, Daniel Lashley, Stephen Bailey, Sandeep Jayawant, Aisling Carr, John McConville, Stephanie Robb, David Beeson

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 164 KB

english, 2012

19

Evaluation of the floppy infant

Paul Sender, Sandeep Jayawant

Journal:

Current Paediatrics

Year:

2003

Language:

english

File:

PDF, 335 KB

english, 2003

20

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Pagnamenta, Alistair T, Lise, Stefano, Harrison, Victoria, Stewart, Helen, Jayawant, Sandeep, Quaghebeur, Gerardine, Deng, Alexander T, Murphy, Valerie Elizabeth, Akha, Elham Sadighi, Rimmer, Andy, Ma

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

21

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

Klein, Andrea, Pitt, Matthew C., McHugh, John C., Niks, Erik H., Sewry, Caroline A., Phadke, Rahul, Feng, Lucy, Manzur, Adnan Y., Tirupathi, Sandya, DeVile, Catherine, Jayawant, Sandeep, Finlayson, Sa

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 645 KB

english, 2013

22

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Rodríguez Cruz, Pedro M., Sewry, Caroline, Beeson, David, Jayawant, Sandeep, Squier, Waney, McWilliam, Robert, Palace, Jacqueline

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 992 KB

english, 2014

23

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

Brunklaus, Andreas, Ellis, Rachael, Stewart, Helen, Aylett, Sarah, Reavey, Eleanor, Jefferson, Ros, Jain, Rakesh, Chakraborty, Supratik, Jayawant, Sandeep, Zuberi, Sameer M.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 521 KB

english, 2015

24

Juvenile Myasthenia Gravis: A Paediatric Perspective

Finnis, Maria F., Jayawant, Sandeep

Journal:

Autoimmune Diseases

Year:

2011

Language:

english

File:

PDF, 97 KB

english, 2011

25

Myotonic dystrophy with symptomatic hydrocephalus in early infancy: A case report

Sinha, Rajiv, Jayawant, Sandeep

Journal:

Journal of Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 33 KB

english, 2015

26

WITHDRAWN: Nemaline myopathy presenting as a stiff baby

Jain, Rakesh Kumar, Jayawant, Sandeep

Journal:

Neuromuscular Disorders

Year:

2010

File:

PDF, 18 KB

2010

27

H1N1 Triggered Recurrent Acute Necrotizing Encephalopathy in a Family With a T653I Mutation in the RANBP2 Gene

Anand, Geetha, Visagan, Ravindran, Chandratre, Saleel, Segal, Shelley, Nemeth, Andrea H., Squier, Waney, Sheerin, Fintan, Neilson, Derek, Jayawant, Sandeep

Journal:

Pediatric Infectious Disease Journal

Year:

2015

Language:

english

File:

PDF, 283 KB

english, 2015

28

Symptomatic stroke complicating central skull base osteomyelitis following otitis media in a 2-year old boy: Case report and review of the literature

Kilich, Eliz, Dwivedi, Reena, Segal, Shelley, Jayawant, Sandeep, Sadarangani, Manish

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2016

Language:

english

File:

PDF, 787 KB

english, 2016

29

Advances in neuromuscular disorders – an update

Ramdas, Sithara, Jayawant, Sandeep

Journal:

Paediatrics and Child Health

Year:

2017

Language:

english

File:

PDF, 149 KB

english, 2017

30

Gliomatosis cerebri in a 10-year-old girl masquerading as diffuse encephalomyelitis and spinal cord tumour

Jayawant, Sandeep, Neale, Jim, Stoodley, Neil, Wallace, Sheila

Journal:

Developmental Medicine & Child Neurology

Year:

2001

Language:

english

File:

PDF, 113 KB

english, 2001

31

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Jayawant, Sandeep, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonn

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 59 KB

english, 2017

32

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonn

Journal:

The American Journal of Human Genetics

Year:

2017

File:

PDF, 49 KB

2017

33

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

Ladds, Emma, Whitney, Andrea, Dombi, Eszter, Hofer, Monika, Anand, Geetha, Harrison, Victoria, Fratter, Carl, Carver, Janet, Barbosa, Ines A., Simpson, Michael, Jayawant, Sandeep, Poulton, Joanna

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 154 KB

english, 2018

34

Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study

Bourke, John P, Watson, Gillian, Muntoni, Francesco, Spinty, Stefan, Roper, Helen, Guglieri, Michela, Speed, Chris, McColl, Elaine, Chikermane, Ashish, Jayawant, Sandeep, Adwani, Satish, Willis, Trace

Journal:

Year:

2018

File:

PDF, 264 KB

2018

35

Disability and visual outcomes following suspected abusive head trauma in children under 2 years

Wright, Juliana, Painter, Sally, Kodagali, Sheethal Sujayeendra, Jones, Nicholas R, Roalfe, Andrea, Jayawant, Sandeep, Elston, John, Anand, Geetha

Journal:

Archives of Disease in Childhood

Year:

2020

File:

PDF, 260 KB

2020