Lista de obras - Mary B Connolly - Dominio Público Uruguay

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

artículo científico publicado en 2005

A Case Report of Obsessive-Compulsive Disorder Following Acute Disseminated Encephalomyelitis

artículo científico publicado en 2013

ADHD, neurological correlates and health-related quality of life in severe pediatric epilepsy

artículo científico publicado en 2007

Acquired brachial-plexus neuropathy in the neonate: a rare presentation of late-onset group-B streptococcal osteomyelitis

artículo científico publicado en 1998

Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease.

artículo científico publicado en 1995

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

artículo científico publicado en 2017

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions

artículo científico publicado en 2018

Cerebral sinus thrombosis following IV immunoglobulin therapy of immune thrombocytopenia purpura

artículo científico publicado en 2011

Cerebrovasculopathy in NF1 associated with ocular and scalp defects

artículo científico publicado en 2010

Cingulate lesions presenting with epileptic spasms.

artículo científico publicado en 2009

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center.

artículo científico publicado en 2017

Clinical features for prediction of survival in neonatal muscle disease.

artículo científico publicado en 1992

Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study

artículo científico publicado en 2011

Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.

artículo científico publicado en 2016

Comment

Cortical visual impairment in children with infantile spasms

artículo científico publicado en 2000

Cranial neuropathy, polyneuropathy and thrombocytopenia with Epstein-Barr virus infection.

artículo científico publicado en 1994

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

artículo científico

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

artículo científico publicado en 2016

Diagnostic value of a multidisciplinary clinic for intellectual disability

artículo científico

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

artículo científico publicado en 2015

Dravet Syndrome: Diagnosis and Long-Term Course.

artículo científico publicado en 2016

Electroclinical features of absence seizures in childhood absence epilepsy

artículo científico publicado en 2006

Electroclinical features of absence seizures in sleep

artículo científico publicado en 2011

Electrocorticography and seizure outcomes in children with lesional epilepsy.

artículo científico publicado en 2010

Encephalopathy complicating Henoch-Schönlein purpura: reversible MRI changes.

artículo científico publicado en 1998

Epilepsy and memory dysfunction

artículo científico publicado en 2009

Epilepsy surgery in the first 3 years of life: a Canadian survey

artículo científico publicado en 2009

Epilepsy with occipital features in children: factors predicting seizure outcome and neuroimaging abnormalities

scientific article published on 15 September 2010

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

article

Factors associated with behavioral and cognitive abnormalities in children receiving topiramate.

artículo científico publicado en 2000

Factors influencing clinical features of absence seizures

artículo científico publicado en 2008

Head shaking by visually impaired children: a voluntary neurovisual adaptation which can be confused with spasmus nutans

artículo científico publicado en 1990

Hepatic dysfunction in Alström disease

scientific article published on 01 September 1991

Hippocampal malrotation and temporal lobe epilepsy: what is the relationship?

artículo científico publicado en 2013

Hyperventilation-induced high-amplitude rhythmic slowing with altered awareness: a video-EEG comparison with absence seizures

artículo científico publicado en 2002

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

artículo científico publicado en 2017

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

artículo científico publicado en 2018

Intravenous immunoglobulin and pyridoxine-dependent seizures

artículo científico publicado en 1991

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

artículo científico publicado en 2017

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

artículo científico publicado en 2012

MRI findings in infants with infantile spasms after neonatal hypoxic-ischemic encephalopathy

artículo científico publicado en 2013

Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

artículo científico publicado en 2017

New antiepileptic drug therapies.

artículo científico publicado en 2002

Outcomes trajectories in children with epilepsy: hypotheses and methodology of a Canadian longitudinal observational study

artículo científico publicado en 2014

Parents report more ADHD symptoms than do teachers in children with epilepsy.

artículo científico publicado en 2010

Pediatric Peri-Insular Hemispherotomy

artículo científico publicado en 2000

Pharmacological management of a youth with ADHD and a seizure disorder

scientific article published on 01 December 2006

Postsurgical health-related quality of life (HRQOL) in children following hemispherectomy for intractable epilepsy

artículo científico publicado en 2007

Postvaricella angiopathy: report of a case with pathologic correlation

scientific article published on 01 May 2001

Preserved episodic memory in subcortical band heterotopia.

artículo científico publicado en 2004

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

artículo científico publicado en 2012

Prospective, open-label, add-on study of lamotrigine in 56 children with intractable generalized epilepsy.

artículo científico publicado en 1997

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

artículo científico publicado en 2011

Pyridoxine responsiveness in novel mutations of the PNPO gene

artículo científico publicado en 2014

Quality of life and seizure outcome after vagus nerve stimulation in children with intractable epilepsy

artículo científico publicado en 2008

Rapid Recovery From Cortical Visual Impairment Following Correction of Prolonged Shunt Malfunction in Congenital Hydrocephalus

artículo científico publicado en 1991

Rapid cycling in severely multidisabled children: a form of bipolar affective disorder?

artículo científico publicado en 1994

Recommendations for HLA-B15:02 and HLA-A31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions.

artículo científico publicado en 2014

Recovery From Central Nervous System Acute Demyelination in Children

artículo científico publicado en 2015

Reexamining the effects of epilepsy surgery on IQ in children: use of regression-based change scores

artículo científico publicado en 2003

Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study

artículo científico

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre

artículo científico publicado en 2018

Seizures involving the supplementary sensorimotor area in children: a video-EEG analysis

scientific article published on 01 October 1995

Sociodemographic correlates of health-related quality of life in pediatric epilepsy.

artículo científico publicado en 2007

Spasms in children with definite and probable mitochondrial disease.

artículo científico publicado en 2004

Status epilepticus amauroticus and posterior reversible encephalopathy syndrome in children.

artículo científico publicado en 2013

Surgical outcome in tuberous sclerosis complex: a multicenter survey.

artículo científico publicado en 2007

Systematic review and case series of neuropsychological functioning after epilepsy surgery in children with dysembryoplastic neuroepithelial tumors (DNET).

artículo científico

Temporal lobectomy in early childhood: the need for long-term follow-up.

artículo científico publicado en 2001

The "vagal ansa": a source of complication in vagus nerve stimulation

artículo científico publicado en 2015

The importance of cerebral magnetic resonance imaging in evaluation of neonatal seizures

artículo científico publicado en 2014

The relationship between d-beta-hydroxybutyrate blood concentrations and seizure control in children treated with the ketogenic diet for medically intractable epilepsy.

artículo científico publicado en 2017

The spectrum of SCN1A-related infantile epileptic encephalopathies

artículo científico publicado en 2007

Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects.

artículo científico publicado en 2006

Validity of three measures of health-related quality of life in children with intractable epilepsy

artículo científico publicado en 2002

Lista de obras de Mary B Connolly

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

A Case Report of Obsessive-Compulsive Disorder Following Acute Disseminated Encephalomyelitis

ADHD, neurological correlates and health-related quality of life in severe pediatric epilepsy

Acquired brachial-plexus neuropathy in the neonate: a rare presentation of late-onset group-B streptococcal osteomyelitis

Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions

Cerebral sinus thrombosis following IV immunoglobulin therapy of immune thrombocytopenia purpura

Cerebrovasculopathy in NF1 associated with ocular and scalp defects

Cingulate lesions presenting with epileptic spasms.

Clinical Experience With Perampanel for Refractory Pediatric Epilepsy in One Canadian Center.

Clinical features for prediction of survival in neonatal muscle disease.

Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study

Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.

Comment

Cortical visual impairment in children with infantile spasms

Cranial neuropathy, polyneuropathy and thrombocytopenia with Epstein-Barr virus infection.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Diagnostic value of a multidisciplinary clinic for intellectual disability

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

Dravet Syndrome: Diagnosis and Long-Term Course.

Electroclinical features of absence seizures in childhood absence epilepsy

Electroclinical features of absence seizures in sleep

Electrocorticography and seizure outcomes in children with lesional epilepsy.

Encephalopathy complicating Henoch-Schönlein purpura: reversible MRI changes.

Epilepsy and memory dysfunction

Epilepsy surgery in the first 3 years of life: a Canadian survey

Epilepsy with occipital features in children: factors predicting seizure outcome and neuroimaging abnormalities

Exome Sequencing and the Management of Neurometabolic Disorders.

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

Factors associated with behavioral and cognitive abnormalities in children receiving topiramate.

Factors influencing clinical features of absence seizures

Head shaking by visually impaired children: a voluntary neurovisual adaptation which can be confused with spasmus nutans

Hepatic dysfunction in Alström disease

Hippocampal malrotation and temporal lobe epilepsy: what is the relationship?

Hyperventilation-induced high-amplitude rhythmic slowing with altered awareness: a video-EEG comparison with absence seizures

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Intravenous immunoglobulin and pyridoxine-dependent seizures

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

MRI findings in infants with infantile spasms after neonatal hypoxic-ischemic encephalopathy

Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

New antiepileptic drug therapies.

Outcomes trajectories in children with epilepsy: hypotheses and methodology of a Canadian longitudinal observational study

Parents report more ADHD symptoms than do teachers in children with epilepsy.

Pediatric Peri-Insular Hemispherotomy

Pharmacological management of a youth with ADHD and a seizure disorder

Postsurgical health-related quality of life (HRQOL) in children following hemispherectomy for intractable epilepsy

Postvaricella angiopathy: report of a case with pathologic correlation

Preserved episodic memory in subcortical band heterotopia.

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Prospective, open-label, add-on study of lamotrigine in 56 children with intractable generalized epilepsy.

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Pyridoxine responsiveness in novel mutations of the PNPO gene

Quality of life and seizure outcome after vagus nerve stimulation in children with intractable epilepsy

Rapid Recovery From Cortical Visual Impairment Following Correction of Prolonged Shunt Malfunction in Congenital Hydrocephalus

Rapid cycling in severely multidisabled children: a form of bipolar affective disorder?

Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions.

Recovery From Central Nervous System Acute Demyelination in Children

Reexamining the effects of epilepsy surgery on IQ in children: use of regression-based change scores

Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre

Seizures involving the supplementary sensorimotor area in children: a video-EEG analysis

Sociodemographic correlates of health-related quality of life in pediatric epilepsy.

Spasms in children with definite and probable mitochondrial disease.

Status epilepticus amauroticus and posterior reversible encephalopathy syndrome in children.

Surgical outcome in tuberous sclerosis complex: a multicenter survey.

Systematic review and case series of neuropsychological functioning after epilepsy surgery in children with dysembryoplastic neuroepithelial tumors (DNET).

Temporal lobectomy in early childhood: the need for long-term follow-up.

The "vagal ansa": a source of complication in vagus nerve stimulation

The importance of cerebral magnetic resonance imaging in evaluation of neonatal seizures

The relationship between d-beta-hydroxybutyrate blood concentrations and seizure control in children treated with the ketogenic diet for medically intractable epilepsy.

The spectrum of SCN1A-related infantile epileptic encephalopathies

Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects.

Validity of three measures of health-related quality of life in children with intractable epilepsy

Recommendations for HLA-B15:02 and HLA-A31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions.