Lista de obras - Roger Whittaker - Dominio Público Uruguay

A Guide to Approaching Regulatory Considerations for Lentiviral-Mediated Gene Therapies

artículo científico publicado en 2017

A cautionary tale: threatened compartment syndrome following electromyography in an anticoagulated patient

artículo científico publicado en 2012

A diagnostic tattoo.

artículo científico publicado en 2009

A guide to approaching regulatory considerations for lentiviral-mediated gene therapies.

artículo científico publicado en 2017

A nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex.

artículo científico publicado en 2009

All diagnoses are clinical, but some are more clinical than others

artículo científico publicado en 2013

Anti-GQ1b ganglioside positive Miller Fisher syndrome - evidence of paranodal pathology on nerve biopsy

Assessment of axillary nerve function and functional outcome after fixation of complex proximal humeral fractures using the extended deltoid-splitting approach

artículo científico publicado en 2008

Clinical reasoning: a 39-year-old man with abdominal cramps.

artículo científico publicado en 2013

Co-morbidity of epilepsy in Tanzanian children: a community-based case-control study

artículo científico publicado en 2011

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

artículo científico publicado en 2017

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

artículo científico publicado en 2007

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

scientific article published on 14 March 2007

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

artículo científico publicado en 2017

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

artículo científico publicado en 2015

Epilepsy in Tanzanian children: association with perinatal events and other risk factors

artículo científico publicado en 2012

Epilepsy in adults with mitochondrial disease: A cohort study.

artículo científico publicado en 2015

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

artículo científico publicado en 2015

Gap junction networks can generate both ripple-like and fast ripple-like oscillations

artículo científico publicado en 2013

Genetic heterogeneity of motor neuropathies

artículo científico publicado en 2017

Human brain slices for epilepsy research: Pitfalls, solutions and future challenges.

artículo científico

Hyperventilation during the EEG is safe in mitochondrial disease

scientific article published on 15 December 2010

Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons.

artículo científico publicado en 2011

Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease

artículo científico publicado en 2013

Initial development and validation of a mitochondrial disease quality of life scale.

artículo científico publicado en 2013

Mitochondrial disease in pregnancy: a systematic review

artículo científico publicado en 2011

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

artículo científico publicado en 2010

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

artículo científico publicado en 2018

Moderate acute alcohol intoxication has minimal effect on surround suppression measured with a motion direction discrimination task

artículo científico publicado en 2015

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

artículo científico publicado en 2018

Nerve Conduction Studies as a Measure of Disease Progression: Objectivity or Illusion?

artículo científico publicado en 2017

Neuromuscular disease presentation with three genetic defects involving two genomes

artículo científico publicado en 2009

Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions

artículo científico publicado en 2010

Overexpression of H-Ryk in mouse fibroblasts confers transforming ability in vitro and in vivo: correlation with up-regulation in epithelial ovarian cancer.

artículo científico publicado en 1999

Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation.

artículo científico publicado en 2008

Prevalence and progression of diabetes in mitochondrial disease

artículo científico publicado en 2007

Prevalence and severity of voice and swallowing difficulties in mitochondrial disease

artículo científico publicado en 2011

Prevalence of active epilepsy in rural Tanzania: a large community-based survey in an adult population.

artículo científico publicado en 2012

Prevalence of mitochondrial DNA disease in adults

artículo científico publicado en 2008

Reply

scientific article published on 25 July 2016

SNAPs, CMAPs and F-waves: nerve conduction studies for the uninitiated.

artículo científico

Seizure self-prediction: Myth or missed opportunity?

artículo científico publicado en 2017

Slow wave sleep and accelerated forgetting.

artículo científico publicado en 2016

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

artículo científico publicado en 2011

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

artículo científico publicado en 2014

Teaching NeuroImages: alternating ptosis and Marcus Gunn jaw-winking phenomenon with PHOX2B mutation.

artículo científico publicado en 2012

Teaching video neuroimages: muscle cramps and a raised creatine kinase

artículo científico publicado en 2014

Testing the neuromuscular junction: what neurophysiology can offer the neurologist

artículo científico publicado en 2011

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

artículo científico publicado en 2018

The epilepsy treatment gap in rural Tanzania: A community-based study in adults.

artículo científico publicado en 2016

The extended deltoid-splitting approach to the proximal humerus

artículo científico publicado en 2007

The fundamentals of electromyography.

artículo científico

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

artículo científico publicado en 2010

Two common psychophysical measures of surround suppression reflect independent neuronal mechanisms.

artículo científico publicado en 2015

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

artículo científico publicado en 2009

Video telemetry: current concepts and recent advances.

artículo científico publicado en 2015

Why the curious incident of the dog in the night was 'contributory'

artículo científico publicado en 2012

Lista de obras de Roger Whittaker

A Guide to Approaching Regulatory Considerations for Lentiviral-Mediated Gene Therapies

A cautionary tale: threatened compartment syndrome following electromyography in an anticoagulated patient

A diagnostic tattoo.

A guide to approaching regulatory considerations for lentiviral-mediated gene therapies.

A nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex.

All diagnoses are clinical, but some are more clinical than others

Anti-GQ1b ganglioside positive Miller Fisher syndrome - evidence of paranodal pathology on nerve biopsy

Assessment of axillary nerve function and functional outcome after fixation of complex proximal humeral fractures using the extended deltoid-splitting approach

Clinical reasoning: a 39-year-old man with abdominal cramps.

Co-morbidity of epilepsy in Tanzanian children: a community-based case-control study

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

Epilepsy in Tanzanian children: association with perinatal events and other risk factors

Epilepsy in adults with mitochondrial disease: A cohort study.

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

Gap junction networks can generate both ripple-like and fast ripple-like oscillations

Genetic heterogeneity of motor neuropathies

Human brain slices for epilepsy research: Pitfalls, solutions and future challenges.

Hyperventilation during the EEG is safe in mitochondrial disease

Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons.

Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease

Initial development and validation of a mitochondrial disease quality of life scale.

Mitochondrial disease in pregnancy: a systematic review

Mitochondrial diseases in childhood: a clinical approach to investigation and management.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Moderate acute alcohol intoxication has minimal effect on surround suppression measured with a motion direction discrimination task

Multi-system neurological disease is common in patients with OPA1 mutations

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Nerve Conduction Studies as a Measure of Disease Progression: Objectivity or Illusion?

Neuromuscular disease presentation with three genetic defects involving two genomes

Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions

Overexpression of H-Ryk in mouse fibroblasts confers transforming ability in vitro and in vivo: correlation with up-regulation in epithelial ovarian cancer.

Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation.

Prevalence and progression of diabetes in mitochondrial disease

Prevalence and severity of voice and swallowing difficulties in mitochondrial disease

Prevalence of active epilepsy in rural Tanzania: a large community-based survey in an adult population.

Prevalence of mitochondrial DNA disease in adults

Reply

SNAPs, CMAPs and F-waves: nerve conduction studies for the uninitiated.

Seizure self-prediction: Myth or missed opportunity?

Slow wave sleep and accelerated forgetting.

Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

Teaching NeuroImages: alternating ptosis and Marcus Gunn jaw-winking phenomenon with PHOX2B mutation.

Teaching video neuroimages: muscle cramps and a raised creatine kinase

Testing the neuromuscular junction: what neurophysiology can offer the neurologist

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

The epilepsy treatment gap in rural Tanzania: A community-based study in adults.

The extended deltoid-splitting approach to the proximal humerus

The fundamentals of electromyography.

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

Two common psychophysical measures of surround suppression reflect independent neuronal mechanisms.

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Video telemetry: current concepts and recent advances.

Why the curious incident of the dog in the night was 'contributory'