Lista de obras -

Advances in the understanding of tuberous sclerosis.

artículo científico publicado en 2000

An epidemiological study of renal pathology in tuberous sclerosis complex

artículo científico publicado en 2004

An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms ⬇️

artículo científico publicado el 22 de junio de 2013

Autism--what is it and where does it come from?

artículo científico publicado en 2002

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

artículo científico publicado en 2006

Cannabis derived medicinal products in child neurology

scientific article published on 16 April 2019

Causes of mortality in individuals with tuberous sclerosis complex.

artículo científico publicado en 2016

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.

artículo científico publicado en 2013

Childhood epilepsy: language, learning and behavioural complications

Childhood haemorrhagic stroke: a 7-year single-centre experience

scientific article published on 20 June 2019

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

artículo científico publicado en 2019

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

artículo científico publicado en 2010

Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial.

artículo científico publicado en 2010

Diagnosis of tuberous sclerosis complex in the fetus

artículo científico publicado en 2018

Diagnostic delays in paediatric stroke

artículo científico publicado en 2014

Duration of breast feeding and cognitive function: Population based cohort study.

artículo científico publicado en 2006

Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis

scientific article published on 01 January 2000

Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex.

artículo científico publicado en 2005

Epilepsy in childhood and quality of life

artículo científico publicado en 2015

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

artículo científico publicado en 2018

Epilepsy related mortality.

artículo científico publicado en 2004

Epileptic spasms - 175 years on: Trying to teach an old dog new tricks

artículo científico publicado en 2016

External hydrocephalus and subdural bleeding in infancy associated with transplacental anti-Ro antibodies.

artículo científico publicado en 2011

Glossal hamartoma in tuberous sclerosis.

artículo científico publicado en 2012

Immunotherapy for arterial ischaemic stroke in childhood: a systematic review

artículo científico publicado en 2016

Infantile spasms and vigabatrin. Study will compare effects of drugs.

artículo científico publicado en 1999

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

artículo científico publicado en 2011

Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.

artículo científico publicado en 2003

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

artículo científico publicado en 2018

Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin.

artículo científico publicado en 2005

Mortality from childhood stroke in England and Wales, 1921-2000.

artículo científico publicado en 2009

Musculoskeletal involvement in tuberous sclerosis

artículo científico publicado en 2016

Non-penetrance in tuberous sclerosis

artículo científico publicado en 2000

Oily fish intake during pregnancy--association with lower hyperactivity but not with higher full-scale IQ in offspring.

artículo científico publicado en 2008

Outcome and recurrence one year after paediatric arterial ischaemic stroke in a population-based cohort.

artículo científico publicado en 2016

Outcomes following childhood arterial ischaemic stroke: a Delphi Consensus on what parents want from future research.

artículo científico publicado en 2014

Planning interventional trials in childhood arterial ischaemic stroke using a Delphi consensus process.

artículo científico publicado en 2017

Prevalence of tuberous sclerosis estimated by capture-recapture analysis.

artículo científico publicado en 1998

Prospective studies of the incidence of pediatric arterial ischaemic stroke

artículo científico publicado en 2017

Psychopathology in tuberous sclerosis: an overview and findings in a population-based sample of adults with tuberous sclerosis.

artículo científico publicado en 2006

Randomized trial of vigabatrin in patients with infantile spasms.

artículo científico publicado en 2002

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

artículo científico publicado en 2018

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

artículo científico publicado en 2000

Research governance delays for a multicentre non-interventional study.

artículo científico publicado en 2009

Risk factors and treatment outcomes of childhood stroke.

artículo científico publicado en 2010

Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.

artículo científico publicado en 2016

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

artículo científico publicado en 2018

Shaken impact syndrome

Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex.

artículo científico publicado en 2017

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

artículo científico publicado en 2014

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

artículo científico publicado en 2018

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

scientific article published on 01 March 2019

The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial.

artículo científico publicado en 2005

The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study.

artículo científico publicado en 2011

The epidemiology of childhood stroke.

artículo científico publicado en 2009

The essential symbiosis of academic and clinical neurology

artículo científico publicado en 2018

The influence of head growth in fetal life, infancy, and childhood on intelligence at the ages of 4 and 8 years.

artículo científico publicado en 2006

The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumor growth

artículo científico publicado en 2018

The relative effect of size at birth, postnatal growth and social factors on cognitive function in late childhood.

artículo científico publicado en 2005

The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.

artículo científico publicado en 2010

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

artículo científico publicado en 2017

Tuberous sclerosis

artículo científico publicado en 1999

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome

artículo científico publicado en 1998

Tuberous sclerosis complex: from basic science to clinical phenotypes

Tuberous sclerosis--what's new?

artículo científico publicado en 2008

Use of melatonin to treat sleep disorders in tuberous sclerosis.

artículo científico publicado en 1999

Lista de obras de

Advances in the understanding of tuberous sclerosis.

An epidemiological study of renal pathology in tuberous sclerosis complex

An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms ⬇️

Autism--what is it and where does it come from?

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

Cannabis derived medicinal products in child neurology

Causes of mortality in individuals with tuberous sclerosis complex.

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.

Childhood epilepsy: language, learning and behavioural complications

Childhood haemorrhagic stroke: a 7-year single-centre experience

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial.

Diagnosis of tuberous sclerosis complex in the fetus

Diagnostic delays in paediatric stroke

Duration of breast feeding and cognitive function: Population based cohort study.

Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis

Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex.

Epilepsy in childhood and quality of life

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Epilepsy related mortality.

Epileptic spasms - 175 years on: Trying to teach an old dog new tricks

External hydrocephalus and subdural bleeding in infancy associated with transplacental anti-Ro antibodies.

Glossal hamartoma in tuberous sclerosis.

Immunotherapy for arterial ischaemic stroke in childhood: a systematic review

Infantile spasms and vigabatrin. Study will compare effects of drugs.

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin.

Mortality from childhood stroke in England and Wales, 1921-2000.

Musculoskeletal involvement in tuberous sclerosis

Non-penetrance in tuberous sclerosis

Oily fish intake during pregnancy--association with lower hyperactivity but not with higher full-scale IQ in offspring.

Outcome and recurrence one year after paediatric arterial ischaemic stroke in a population-based cohort.

Outcomes following childhood arterial ischaemic stroke: a Delphi Consensus on what parents want from future research.

Planning interventional trials in childhood arterial ischaemic stroke using a Delphi consensus process.

Prevalence of tuberous sclerosis estimated by capture-recapture analysis.

Prospective studies of the incidence of pediatric arterial ischaemic stroke

Psychopathology in tuberous sclerosis: an overview and findings in a population-based sample of adults with tuberous sclerosis.

Randomized trial of vigabatrin in patients with infantile spasms.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex.

Research governance delays for a multicentre non-interventional study.

Risk factors and treatment outcomes of childhood stroke.

Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

Shaken impact syndrome

Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex.

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial.

The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study.

The epidemiology of childhood stroke.

The essential symbiosis of academic and clinical neurology

The influence of head growth in fetal life, infancy, and childhood on intelligence at the ages of 4 and 8 years.

The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumor growth

The relative effect of size at birth, postnatal growth and social factors on cognitive function in late childhood.

The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

Tuberous sclerosis

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome

Tuberous sclerosis complex: from basic science to clinical phenotypes

Tuberous sclerosis--what's new?

Use of melatonin to treat sleep disorders in tuberous sclerosis.